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HUDA ZOGHBI

TitleDistinguished Service Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address1250 MOURSUND STREET
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics

    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Neurology
    DivisionNeurology

    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Neuroscience
    DivisionNeuroscience


    Collapse Affiliation 
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    Collapse Biography 
    Collapse awards and honors
    1995Kilby Award for Extraordinary Contributions to Society
    1996E. Mead Johnson Award , Society of Pediatric Research
    1998Sidney Carter Award (American Academy of Neurology); Soriano Award, The American Neurological Association; Javits Award, NINDS Council, National Institutes of Health
    2000Elected to the Institute of Medicine, National Academy of Sciences
    2001Bernard Sachs Award, Child Neurology Society
    2002Raymond D. Adams Award, Elected Fellow, AAAS
    2004Elected, National Academy of Sciences; Neuronal Plasticity Prize, IPSEN Foundation, Lisbon , Portuga
    2006Bristol-Myers Squibb Neuroscience Distinguished Achievement Award
    2007Robert J. and Claire Pasarow Foundation Award in Neuropsychiatry, Los Angeles , CA; Honorary Doctora
    2008Honorary Doctorate of Science, Meharry Medical School, TN; Texas Women's Hall of Fame Award Texas Go
    2009Vilcek Prize for Biomedical Research
    2009International Rett Syndrome Foundation's Circle of Angels Research Award
    2011Gruber Prize in Neuroscience, The Peter and Patricia Gruber Foundation
    2013Dickson Prize in Medicine, University of Pittsburg School of Medicine
    2013The Pearl Meister Greengard Prize, The Rockefeller University
    2014Skolnick Prize, McGovern Institute at MIT
    2014 March of Dimes Prize in Developmental Biology
    2014 Honorary Doctor of Medical Sciences , Yale University
    2014The Mortimer D. Sackler, M.D. Prize in Developmental Psychobiology
    2015American Task Force for Lebanon Award
    2015Javits Neurocience Investigator Award, NIH, NINDS
    2015Vanderbilt Prize in Biomedical Science, Vanderbilt University School of Medicine
    2016Jesse Stevenson Kovalenka Medal, National Academy of Sciences
    2016Mechthild Esser Nemmers Prize in Medical Science, Northwestern University
    2016The Shaw Prize Laureate in Life Science and Medicine, The Shaw Prize Foundation, Hong Kong

    Collapse Overview 
    Collapse overview
    ABOUT
    Huda Y. Zoghbi is an investigator at the Howard Hughes Medical Institute, and a professor of Pediatrics at Baylor College of Medicine, Houston where she also is a professor of Molecular and Human Genetics, Neurology, Neuroscience, and faculty in the Developmental Biology, Cell and Molecular Biology, and Translational Biology and Molecular Medicine Graduate Programs.

    A specialist in the study of development and neurogenetics, her work has encompassed many neurological disorders including the inherited degenerative balance disorders (spinocerebellar ataxias) and autism spectrum disorders such as Rett syndrome. The lab also investigates key and basic developmental questions about neuronal differentiation and development of the auditory and proprioceptive sensory system.

    EDUCATION
    Dr. Zoghbi was born in Beirut, Lebanon where she attended the American University of Beirut for her undergraduate studies. She began medical school at AUB only to have her plans interrupted during her sophomore year when she was visiting family in the U.S. and could not return to Lebanon due to an escalating civil war. She transferred to Meharry Medical College where she graduated in 1979. Dr. Zoghbi then came to Baylor College of Medicine where she completed residency training in pediatrics and neurology and encountered her first Rett syndrome patient as a resident in 1983. Her patients, particularly those with Rett syndrome, inspired her to pursue research training in molecular genetics. She trained with Dr. Arthur L. Beaudet in the Department of Molecular and Human Genetics at Baylor College of Medicine. Upon completion of her training in 1988, she joined the faculty of Baylor College of Medicine as an assistant professor.

    SERVICE
    Dr. Zoghbi is a member of several professional organizations and serves on the editorial boards of numerous prominent journals. She also serves on several scientific advisory panels including NINDS advisory council and the McKnight Endowment Fund for Neuroscience.

    SELECTED MEMBERSHIPS
    Institute of Medicine
    American Association for the Advancement of Science
    National Academy of Science

    PERSONAL
    Dr. Huda Zoghbi is married to Dr. William Zoghbi, Professor of Cardiology, DeBakey Heart Center, at the Methodist Hospital, and is the proud mother of Roula Zoghbi (Middlebury College, class 2007) and Anthony Zoghbi (Washington University in St. Louis, Class of 2009).

    She is most grateful to her husband and children for unconditional love and support; her mentors for setting her on the right track; her friends for embodying what friendship is; her patients for their trust and participation; and her past and current lab members for their tireless efforts and for making the lab a fun and stimulating place.

    Dr. Zoghbi enjoys reading, working out, gourmet cooking (especially when she teams up with her daughter, a superb dessert chef), and the opera.

    Collapse Research 
    Collapse research activities and funding
    P50HD103555     (NAGAMANI, SANDESH CHAKRAVARTHY SREENATH)Jul 22, 2020 - May 31, 2025
    NIH
    Baylor College of Medicine Intellectual and Developmental Disabilities Research Center
    Role: Principal Investigator
    U54HD083092     (ZOGHBI, HUDA Y)Sep 23, 2014 - Jun 30, 2020
    NIH
    Baylor Intellectual and Developmental Disabilities Research Centers
    Role: Principal Investigator
    C06RR029965     (ZOGHBI, HUDA Y)Mar 25, 2010 - Mar 24, 2014
    NIH
    NRI Build-out: Advancing Translational Brain Research
    Role: Principal Investigator
    R01NS070302     (ZOGHBI, HUDA Y)Sep 30, 2009 - Aug 31, 2012
    NIH
    Elucidating the Roles of SHANK3 and FXR in the Autism Interactome
    Role: Principal Investigator
    R01NS057819     (ZOGHBI, HUDA Y)Sep 4, 2006 - Apr 30, 2026
    NIH
    MOLECULAR PATHOGENESIS STUDIES OF RETT SYNDROME
    Role: Principal Investigator
    P01HD040301     (ZOGHBI, HUDA Y)Jul 23, 2001 - May 31, 2007
    NIH
    Pathophysiology of Rett Syndrome /MECP2 Mutations
    Role: Principal Investigator
    R01NS031367     (ZOGHBI, HUDA Y)Feb 1, 1993 - Jan 31, 1998
    NIH
    CLONING OF THE AICARDI AND GOLTZ SYNDROME GENES
    Role: Principal Investigator
    R01NS027699     (ZOGHBI, HUDA Y)Sep 1, 1989 - Jun 30, 2027
    NIH
    Molecular Studies of Spinocerebellar Ataxia Type 1
    Role: Principal Investigator
    R37NS027699     (ZOGHBI, HUDA Y)Sep 1, 1989 - Jun 30, 2022
    NIH
    MOLECULAR STUDIES OF SPINOCEREBELLAR ATAXIS TYPE I
    Role: Principal Investigator
    P30HD024064     (ZOGHBI, HUDA Y)Aug 1, 1988 - Dec 30, 2014
    NIH
    Baylor Intellectual and Developmental Disabilities Research Center
    Role: Principal Investigator
    R01HD024234     (ZOGHBI, HUDA Y)May 1, 1988 - Aug 31, 2001
    NIH
    RETT SYNDROME
    Role: Principal Investigator
    K11HD000684     (ZOGHBI, HUDA Y)Aug 1, 1985 - Jul 31, 1990
    NIH
    GENE CLONING FOR HLA-LINKED SPINOCEREBELLAR ATAXIA
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146. PMID: 39696717.
      Citations:    Fields:    Translation:Humans
    2. Sonn JY, Zoghbi HY. MeCP2 goes into unmethylated territories. Nat Neurosci. 2024 Dec 17. PMID: 39690321.
      Citations:    Fields:    
    3. Rahimi-Balaei M, Amiri S, Lamonerie T, Wu SR, Zoghbi HY, Consalez GG, Goldowitz D, Marzban H. Identification of an early subset of cerebellar nuclei neurons in mice. Elife. 2024 Dec 16; 13. PMID: 39679919.
      Citations:    Fields:    Translation:AnimalsCells
    4. Bajikar SS, Zhou J, O'Hara R, Tirumala HP, Durham MA, Trostle AJ, Dias M, Shao Y, Chen H, Wang W, Yalamanchili HK, Wan YW, Banaszynski LA, Liu Z, Zoghbi HY. Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction and inform pathogenesis. Neuron. 2024 Dec 06. PMID: 39689710.
      Citations:    Fields:    
    5. Kim J, Tadros B, Liang YH, Kim Y, Lasagna-Reeves C, Sonn JY, Chung DC, Hyman B, Holtzman DM, Zoghbi HY. TYK2 regulates tau levels, phosphorylation and aggregation in a tauopathy mouse model. Nat Neurosci. 2024 Dec; 27(12):2417-2429. PMID: 39528671; PMCID: PMC11614740.
      Citations:    Fields:    Translation:HumansAnimalsCells
    6. Bajikar SS, Sztainberg Y, Trostle AJ, Tirumala HP, Wan YW, Harrop CL, Bengtsson JD, Carvalho CMB, Pehlivan D, Suter B, Neul JL, Liu Z, Jafar-Nejad P, Rigo F, Zoghbi HY. Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels. Hum Mol Genet. 2024 11 08; 33(22):1986-2001. PMID: 39277796; PMCID: PMC11555823.
      Citations:    Fields:    Translation:HumansAnimalsCells
    7. Kim Y, McInnes J, Kim J, Liang YHW, Veeraragavan S, Garza AR, Belfort BDW, Arenkiel B, Samaco R, Zoghbi HY. Olfactory deficit and gastrointestinal dysfunction precede motor abnormalities in alpha-Synuclein G51D knock-in mice. Proc Natl Acad Sci U S A. 2024 Sep 24; 121(39):e2406479121. PMID: 39284050; PMCID: PMC11441490.
      Citations:    Fields:    Translation:HumansAnimalsCells
    8. Butts JC, Wu SR, Durham MA, Dhindsa RS, Revelli JP, Ljungberg MC, Saulnier O, McLaren ME, Taylor MD, Zoghbi HY. A single-cell transcriptomic map of the developing Atoh1 lineage identifies neural fate decisions and neuronal diversity in the hindbrain. Dev Cell. 2024 Aug 19; 59(16):2171-2188.e7. PMID: 39106860.
      Citations: 1     Fields:    Translation:AnimalsCells
    9. Chung DC, Deng X, Yalamanchili HK, Revelli JP, Han AL, Tadros B, Richman R, Dias M, Naini FA, Boeynaems S, Hyman BT, Zoghbi HY. The big tau splice isoform resists Alzheimer's-related pathological changes. bioRxiv. 2024 Jul 31. PMID: 39211086; PMCID: PMC11360890.
      Citations:    
    10. Sonn JY, Kim W, Iwanaszko M, Aoi Y, Li Y, Parkitny L, Brissette JL, Weiner L, Al-Ramahi I, Botas J, Shilatifard A, Zoghbi HY. MeCP2 Interacts with the Super Elongation Complex to Regulate Transcription. bioRxiv. 2024 Jul 01. PMID: 39005382; PMCID: PMC11244860.
      Citations:    
    11. Duvick L, Southern WM, Benzow KA, Burch ZN, Handler HP, Mitchell JS, Kuivinen H, Gadiparthi U, Yang P, Soles A, Sheeler CA, Rainwater O, Serres S, Lind EB, Nichols-Meade T, O'Callaghan B, Zoghbi HY, Cvetanovic M, Wheeler VC, Ervasti JM, Koob MD, Orr HT, Duvick L, Southern WM, Benzow KA, Burch ZN, Handler HP, Mitchell JS, Kuivinen H, Gadiparthi U, Yang P, Soles A, Sheeler CA, Rainwater O, Serres S, Lind EB, Nichols-Meade T, You Y, O'Callaghan B, Zoghbi HY, Cvetanovic M, Wheeler VC, Ervasti JM, Koob MD, Orr HT. Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease. JCI Insight. 2024 Mar 21; 9(9). PMID: 38512434; PMCID: PMC11141930.
      Citations:    Fields:    Translation:HumansAnimalsCells
    12. Tejwani L, Ravindra NG, Lee C, Cheng Y, Nguyen B, Luttik K, Ni L, Zhang S, Morrison LM, Gionco J, Xiang Y, Yoon J, Ro H, Haidery F, Grijalva RM, Bae E, Kim K, Martuscello RT, Orr HT, Zoghbi HY, McLoughlin HS, Ranum LPW, Shakkottai VG, Faust PL, Wang S, van Dijk D, Lim J. Longitudinal single-cell transcriptional dynamics throughout neurodegeneration in SCA1. Neuron. 2024 Feb 07; 112(3):362-383.e15. PMID: 38016472; PMCID: PMC10922326.
      Citations:    Fields:    Translation:HumansAnimalsCells
    13. Wu SR, Zoghbi HY. The Atoh1-Cre Knock-In Allele Ectopically Labels a Subpopulation of Amacrine Cells and Bipolar Cells in Mouse Retina. eNeuro. 2023 11; 10(11). PMID: 37923392; PMCID: PMC10626521.
      Citations:    Fields:    Translation:AnimalsCells
    14. Zhou J, Cattoglio C, Shao Y, Tirumala HP, Vetralla C, Bajikar SS, Li Y, Chen H, Wang Q, Wu Z, Tang B, Zahabiyon M, Bajic A, Meng X, Ferrie JJ, LaGrone A, Zhang P, Kim JJ, Tang J, Liu Z, Darzacq X, Heintz N, Tjian R, Zoghbi HY. A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels. Genes Dev. 2023 10 01; 37(19-20):883-900. PMID: 37890975; PMCID: PMC10691473.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    15. Deisseroth CA, Lee WS, Kim J, Jeong HH, Dhindsa RS, Wang J, Zoghbi HY, Liu Z. Literature-based predictions of Mendelian disease therapies. Am J Hum Genet. 2023 10 05; 110(10):1661-1672. PMID: 37741276; PMCID: PMC10577072.
      Citations:    Fields:    
    16. Wu SR, Butts JC, Caudill MS, Revelli JP, Dhindsa RS, Durham MA, Zoghbi HY. Atoh1 drives the heterogeneity of the pontine nuclei neurons and promotes their differentiation. Sci Adv. 2023 06 30; 9(26):eadg1671. PMID: 37390208; PMCID: PMC10313176.
      Citations: 1     Fields:    Translation:AnimalsCells
    17. Duvick L, Southern WM, Benzow K, Handler HP, Mitchell JS, Kuivinen H, Gadiparthi UK, Yang P, Soles A, Scheeler C, Rainwater O, Nichols-Meade T, Zoghbi HY, Ervasti JM, Cvetanovic M, Koob MD, Orr HT, Burch ZN, Serres S, Lind E, O'Callaghan B, Wheeler VC. Delineating regional vulnerability in the neurodegenerative disease SCA1 using a conditional mutant ATXN1 mouse. bioRxiv. 2023 Jun 30. PMID: 36798410; PMCID: PMC9934664.
      Citations:    
    18. Coffin SL, Durham MA, Nitschke L, Xhako E, Brown AM, Revelli JP, Villavicencio Gonzalez E, Lin T, Handler HP, Dai Y, Trostle AJ, Wan YW, Liu Z, Sillitoe RV, Orr HT, Zoghbi HY. Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1. Neuron. 2023 Mar 15; 111(6):915. PMID: 36924764; PMCID: PMC10153637.
      Citations: 1     Fields:    
    19. Bajikar SS, Anderson AG, Zhou J, Durham MA, Trostle AJ, Wan YW, Liu Z, Zoghbi HY. MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function. Elife. 2023 02 27; 12. PMID: 36848184; PMCID: PMC9977283.
      Citations: 1     Fields:    Translation:Animals
    20. Kim J, de Haro M, Al-Ramahi I, Garaicoechea LL, Jeong HH, Sonn JY, Tadros B, Liu Z, Botas J, Zoghbi HY. Evolutionarily conserved regulators of tau identify targets for new therapies. Neuron. 2023 03 15; 111(6):824-838.e7. PMID: 36610398.
      Citations: 5     Fields:    Translation:HumansAnimals
    21. Coffin SL, Durham MA, Nitschke L, Xhako E, Brown AM, Revelli JP, Villavicencio Gonzalez E, Lin T, Handler HP, Dai Y, Trostle AJ, Wan YW, Liu Z, Sillitoe RV, Orr HT, Zoghbi HY. Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1. Neuron. 2023 02 15; 111(4):481-492.e8. PMID: 36577402; PMCID: PMC9957872.
      Citations: 3     Fields:    Translation:AnimalsCells
    22. Handler HP, Duvick L, Mitchell JS, Cvetanovic M, Reighard M, Soles A, Mather KB, Rainwater O, Serres S, Nichols-Meade T, Coffin SL, You Y, Ruis BL, O'Callaghan B, Henzler C, Zoghbi HY, Orr HT. Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles. Neuron. 2023 02 15; 111(4):493-507.e6. PMID: 36577403; PMCID: PMC9957934.
      Citations: 2     Fields:    Translation:AnimalsCells
    23. Wu JPH, Yeung J, Rahimi-Balaei M, Wu SR, Zoghbi H, Goldowitz D. The Transcription Factor Pou3f1 Sheds Light on the Development and Molecular Diversity of Glutamatergic Cerebellar Nuclear Neurons in the Mouse. Front Mol Neurosci. 2022; 15:921901. PMID: 35935334; PMCID: PMC9347289.
      Citations:    
    24. Davidson BL, Gao G, Berry-Kravis E, Bradbury AM, Buxbaum JD, Corcoran GR, Gray SJ, Gray-Edwards H, Kleiman RJ, Shaywitz AJ, Wang D, Zoghbi HY, Flotte TR, Tauscher-Wisniewski S, Tifft CJ, Sahin M, Gene Therapy Workshop Faculty, B?nnemann C. Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders. Mol Ther. 2022 07 06; 30(7):2416-2428. PMID: 35585789; PMCID: PMC9263284.
      Citations:    Fields:    Translation:Humans
    25. Lee WS, Al-Ramahi I, Jeong HH, Jang Y, Lin T, Adamski CJ, Lavery LA, Rath S, Richman R, Bondar VV, Alcala E, Revelli JP, Orr HT, Liu Z, Botas J, Zoghbi HY. Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1. J Clin Invest. 2022 05 02; 132(9). PMID: 35499073; PMCID: PMC9057624.
      Citations:    Fields:    Translation:HumansAnimals
    26. Orengo JP, Nitschke L, van der Heijden ME, Ciaburri NA, Orr HT, Zoghbi HY. Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model. JCI Insight. 2022 04 22; 7(8). PMID: 35290244; PMCID: PMC9089789.
      Citations:    Fields:    Translation:AnimalsCells
    27. He L, Caudill MS, Jing J, Wang W, Sun Y, Tang J, Jiang X, Zoghbi HY. A weakened recurrent circuit in the hippocampus of Rett syndrome mice disrupts long-term memory representations. Neuron. 2022 05 18; 110(10):1689-1699.e6. PMID: 35290792; PMCID: PMC9930308.
      Citations:    Fields:    Translation:AnimalsCells
    28. Ballabio A, Zoghbi H. C. Thomas Caskey (1938-2022). Science. 2022 Feb 25; 375(6583):824. PMID: 35201877.
      Citations:    Fields:    
    29. De Strooper B, Zoghbi H. Editorial overview: Neurobiology of disease. Curr Opin Neurobiol. 2022 Feb; 72:iv-ix. PMID: 35248249.
      Citations:    Fields:    
    30. Zhou J, Hamdan H, Yalamanchili HK, Pang K, Pohodich AE, Lopez J, Shao Y, Oses-Prieto JA, Li L, Kim W, Durham MA, Bajikar SS, Palmer DJ, Ng P, Thompson ML, Bebin EM, Burlingame AL, Liu Z, Rasband MN, Zoghbi HY, M?ller AJ, Kuechler A, Kampmeier A, Haack TB. Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders. Proc Natl Acad Sci U S A. 2022 01 25; 119(4). PMID: 35074918; PMCID: PMC8794850.
      Citations:    Fields:    Translation:AnimalsCells
    31. McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S. Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods. Hum Mutat. 2022 08; 43(8):1097-1113. PMID: 34837432; PMCID: PMC9135956.
      Citations:    Fields:    Translation:Humans
    32. van der Heijden ME, Lackey EP, Perez R, I?leyen FS, Brown AM, Donofrio SG, Lin T, Zoghbi HY, Sillitoe RV. Maturation of Purkinje cell firing properties relies on neurogenesis of excitatory neurons. Elife. 2021 09 20; 10. PMID: 34542409; PMCID: PMC8452305.
      Citations: 3     Fields:    Translation:AnimalsCells
    33. Zoghbi HY, Mehta AR. Purkinje cells and their trees. Lancet Neurol. 2021 Sep; 20(9):706. PMID: 34418395; PMCID: PMC7611748.
      Citations:    Fields:    
    34. Leysen S, Burnley RJ, Rodriguez E, Milroy LG, Soini L, Adamski CJ, Nitschke L, Davis R, Obsil T, Brunsveld L, Crabbe T, Zoghbi HY, Ottmann C, Davis JM. A Structural Study of the Cytoplasmic Chaperone Effect of 14-3-3 Proteins on Ataxin-1. J Mol Biol. 2021 09 17; 433(19):167174. PMID: 34302818; PMCID: PMC8505757.
      Citations: 2     Fields:    Translation:HumansCells
    35. Zoghbi HY, V?zquez-V?lez GE. Parkinson's Disease Genetics and Pathophysiology. Annu Rev Neurosci. 2021 07 08; 44:87-108. PMID: 34236893.
      Citations: 12     Fields:    Translation:HumansCells
    36. Ash RT, Buffington SA, Park J, Suter B, Costa-Mattioli M, Zoghbi HY, Smirnakis SM. Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism. eNeuro. 2021 Jul-Aug; 8(4). PMID: 34021030; PMCID: PMC8260274.
      Citations: 3     Fields:    Translation:AnimalsCells
    37. Achilly NP, Wang W, Zoghbi HY. Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome. Nature. 2021 04; 592(7855):596-600. PMID: 33762729; PMCID: PMC8093094.
      Citations: 13     Fields:    Translation:AnimalsCells
    38. Shao Y, Bajikar SS, Tirumala HP, Gutierrez MC, Wythe JD, Zoghbi HY. Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions. Genes Dev. 2021 04 01; 35(7-8):489-494. PMID: 33737384; PMCID: PMC8015713.
      Citations:    Fields:    Translation:HumansAnimalsCells
    39. Lee WS, Lavery L, Rousseaux MWC, Rutledge EB, Jang Y, Wan YW, Wu SR, Kim W, Al-Ramahi I, Rath S, Adamski CJ, Bondar VV, Tewari A, Soleimani S, Mota S, Yalamanchili HK, Orr HT, Liu Z, Botas J, Zoghbi HY. Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1. EMBO J. 2021 04 01; 40(7):e106106. PMID: 33709453; PMCID: PMC8013850.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    40. Shao Y, Sztainberg Y, Wang Q, Bajikar SS, Trostle AJ, Wan YW, Jafar-Nejad P, Rigo F, Liu Z, Tang J, Zoghbi HY. Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome. Sci Transl Med. 2021 03 03; 13(583). PMID: 33658357; PMCID: PMC8976688.
      Citations: 5     Fields:    Translation:Animals
    41. Nitschke L, Coffin SL, Xhako E, El-Najjar DB, Orengo JP, Alcala E, Dai Y, Wan YW, Liu Z, Orr HT, Zoghbi HY. Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1. JCI Insight. 2021 02 08; 6(3). PMID: 33554954; PMCID: PMC7934855.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    42. Ash RT, Park J, Suter B, Zoghbi HY, Smirnakis SM. Excessive Formation and Stabilization of Dendritic Spine Clusters in the MECP2-Duplication Syndrome Mouse Model of Autism. eNeuro. 2021 Jan-Feb; 8(1). PMID: 33168618; PMCID: PMC7877475.
      Citations: 4     Fields:    Translation:AnimalsCells
    43. Achilly NP, He LJ, Kim OA, Ohmae S, Wojaczynski GJ, Lin T, Sillitoe RV, Medina JF, Zoghbi HY. Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice. Elife. 2021 01 26; 10. PMID: 33494858; PMCID: PMC7837679.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    44. Ward CS, Huang TW, Herrera JA, Samaco RC, McGraw CM, Parra DE, Arvide EM, Ito-Ishida A, Meng X, Ure K, Zoghbi HY, Neul JL. Loss of MeCP2 Function Across Several Neuronal Populations Impairs Breathing Response to Acute Hypoxia. Front Neurol. 2020; 11:593554. PMID: 33193060; PMCID: PMC7662121.
      Citations: 3     
    45. Ito-Ishida A, Baker SA, Sillitoe RV, Sun Y, Zhou J, Ono Y, Iwakiri J, Yuzaki M, Zoghbi HY. MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons. J Neurosci. 2020 11 04; 40(45):8746-8766. PMID: 33046553; PMCID: PMC7643291.
      Citations: 5     Fields:    Translation:AnimalsCells
    46. Nitschke L, Tewari A, Coffin SL, Xhako E, Pang K, Gennarino VA, Johnson JL, Blanco FA, Liu Z, Zoghbi HY. miR760 regulates ATXN1 levels via interaction with its 5' untranslated region. Genes Dev. 2020 09 01; 34(17-18):1147-1160. PMID: 32763910; PMCID: PMC7462065.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    47. Sandweiss AJ, Brandt VL, Zoghbi HY. Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies. Lancet Neurol. 2020 08; 19(8):689-698. PMID: 32702338.
      Citations: 26     Fields:    Translation:Humans
    48. Yalamanchili HK, Alcott CE, Ji P, Wagner EJ, Zoghbi HY, Liu Z. PolyA-miner: accurate assessment of differential alternative poly-adenylation from 3'Seq data using vector projections and non-negative matrix factorization. Nucleic Acids Res. 2020 07 09; 48(12):e69. PMID: 32463457; PMCID: PMC7337927.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    49. Pang K, Wang L, Wang W, Zhou J, Cheng C, Han K, Zoghbi HY, Liu Z. Coexpression enrichment analysis at the single-cell level reveals convergent defects in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders. Genome Res. 2020 06; 30(6):835-848. PMID: 32554779; PMCID: PMC7370880.
      Citations: 5     Fields:    Translation:HumansCells
    50. Myers SM, Challman TD, Bernier R, Chung WK, Constantino JN, Eichler EE, Jacquemont S, Miller DT, Mitchell KJ, Zoghbi HY, Martin CL, Ledbetter DH, Bourgeron T. Insufficient Evidence for "Autism-Specific" Genes. Am J Hum Genet. 2020 05 07; 106(5):587-595. PMID: 32359473; PMCID: PMC7212289.
      Citations: 35     Fields:    Translation:Humans
    51. Fagiolini M, Patrizi A, LeBlanc J, Jin LW, Maezawa I, Sinnett S, Gray SJ, Molholm S, Foxe JJ, Johnston MV, Naidu S, Blue M, Hossain A, Kadam S, Zhao X, Chang Q, Zhou Z, Zoghbi H. Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders. Neuroscience. 2020 10 01; 445:190-206. PMID: 32360592; PMCID: PMC8025698.
      Citations: 5     Fields:    Translation:Humans
    52. Alcott CE, Yalamanchili HK, Ji P, van der Heijden ME, Saltzman A, Elrod N, Lin A, Leng M, Bhatt B, Hao S, Wang Q, Saliba A, Tang J, Malovannaya A, Wagner EJ, Liu Z, Zoghbi HY. Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation. Elife. 2020 04 22; 9. PMID: 32319885; PMCID: PMC7176433.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    53. Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP. Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Hum Mol Genet. 2020 03 27; 29(5):705-715. PMID: 31600777; PMCID: PMC7104670.
      Citations: 3     Fields:    Translation:Animals
    54. Lavery LA, Ure K, Wan YW, Luo C, Trostle AJ, Wang W, Jin H, Lopez J, Lucero J, Durham MA, Castanon R, Nery JR, Liu Z, Goodell M, Ecker JR, Behrens MM, Zoghbi HY. Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome. Elife. 2020 03 11; 9. PMID: 32159514; PMCID: PMC7065908.
      Citations: 17     Fields:    Translation:AnimalsCells
    55. Chen W, Cai ZL, Chao ES, Chen H, Longley CM, Hao S, Chao HT, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M. Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. Elife. 2020 02 19; 9. PMID: 32073399; PMCID: PMC7056272.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    56. Luo L, Chen C, Dumontier E, Falkner S, Furlanis E, Gomez AM, Hoshina N, Huang WH, Hutchison MA, Itoh-Maruoka Y, Lavery LA, Li W, Maruo T, Motohashi J, Pai EL, Pelkey KA, Pereira A, Philips T, Sinclair JL, Stogsdill JA, Wang J, Wortel J, You W, Abumaria N, Beier KT, Burgess HA, Cepko CL, Eroglu C, Kaeser PS, Kay JN, Lu W, Luo L, Mandai K, McBain CJ, Prado MAM, Prado VF, Rothstein J, Rubenstein JLR, Sakimura K, Sanes JR, Scheiffele P, Takai Y, Umemori H, Verhage M, Yuzaki M, Zoghbi HY, Craig AM, Ambrozkiewicz MC, Benseler F, Traunm?ller L, Brose N, Cloutier JF, Goebbels S, Nave KA, Saher G, Kawabe H. Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalence of Germline Recombination and Influencing Factors. Neuron. 2020 04 08; 106(1):37-65.e5. PMID: 32027825; PMCID: PMC7377387.
      Citations: 36     Fields:    Translation:AnimalsCells
    57. Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 02 01; 29(3):459-470. PMID: 31943016; PMCID: PMC7015847.
      Citations: 1     Fields:    Translation:HumansAnimals
    58. van der Heijden ME, Zoghbi HY. Development of the brainstem respiratory circuit. Wiley Interdiscip Rev Dev Biol. 2020 05; 9(3):e366. PMID: 31816185.
      Citations: 3     Fields:    Translation:HumansAnimals
    59. Gonzales KA, Revelli JP, Adamski CJ, Alavi Naini F, Bajic A, Craigen E, Richman R, Heman-Ackah SM, Wood MJA, Rousseaux MWC, Zoghbi HY, V?zquez-V?lez GE. Doublecortin-like Kinase 1 Regulates a-Synuclein Levels and Toxicity. J Neurosci. 2020 01 08; 40(2):459-477. PMID: 31748376; PMCID: PMC6948939.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    60. Ballinger EC, Schaaf CP, Patel AJ, de Maio A, Tao H, Talmage DA, Zoghbi HY, Role LW. Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex. eNeuro. 2019 Nov/Dec; 6(6). PMID: 31562178; PMCID: PMC6825959.
      Citations: 9     Fields:    Translation:AnimalsCells
    61. Zoghbi HY. Strategy to selectively remove mutant proteins could combat neurodegeneration. Nature. 2019 11; 575(7781):57-58. PMID: 31690850.
      Citations: 1     Fields:    
    62. Patel AJ, Wan YW, Al-Ouran R, Revelli JP, Cardenas MF, Oneissi M, Xi L, Jalali A, Magnotti JF, Muzny DM, Doddapaneni H, Sebastian S, Heck KA, Goodman JC, Gopinath SP, Liu Z, Rao G, Plon SE, Yoshor D, Wheeler DA, Zoghbi HY, Klisch TJ. Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors. Proc Natl Acad Sci U S A. 2019 10 22; 116(43):21715-21726. PMID: 31591222; PMCID: PMC6815170.
      Citations: 35     Fields:    Translation:HumansCells
    63. Lavery LA, Zoghbi HY. The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis. Curr Opin Neurobiol. 2019 12; 59:180-188. PMID: 31542590; PMCID: PMC6892602.
      Citations: 11     Fields:    Translation:HumansCells
    64. Meng X, McGraw CM, Wang W, Jing J, Yeh SY, Wang L, Lopez J, Brown AM, Lin T, Chen W, Xue M, Sillitoe RV, Jiang X, Zoghbi HY. Neurexophilin4 is a selectively expressed a-neurexin ligand that modulates specific cerebellar synapses and motor functions. Elife. 2019 09 16; 8. PMID: 31524598; PMCID: PMC6763262.
      Citations: 6     Fields:    Translation:AnimalsCells
    65. Suh J, Romano DM, Nitschke L, Herrick SP, DiMarzio BA, Dzhala V, Bae JS, Oram MK, Zheng Y, Hooli B, Mullin K, Gennarino VA, Wasco W, Schmahmann JD, Albers MW, Zoghbi HY, Tanzi RE. Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription. Cell. 2019 08 22; 178(5):1159-1175.e17. PMID: 31442405; PMCID: PMC6726125.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    66. Walkley SU, Abbeduto L, Batshaw ML, Bhattacharyya A, Bookheimer SY, Christian BT, Constantino JN, de Vellis J, Doherty DA, Nelson DL, Piven J, Poduri A, Pomeroy SL, Samaco RC, Zoghbi HY, Guralnick MJ, Intellectual and Developmental Disabilities Research Centers Directors Committee. Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments. Ann Neurol. 2019 09; 86(3):332-343. PMID: 31206741; PMCID: PMC8320680.
      Citations:    Fields:    Translation:Humans
    67. Huichalaf CH, Al-Ramahi I, Park KW, Grunke SD, Lu N, de Haro M, El-Zein K, Gallego-Flores T, Perez AM, Jung SY, Botas J, Zoghbi HY, Jankowsky JL. Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease. Hum Mol Genet. 2019 06 15; 28(12):2014-2029. PMID: 30753434; PMCID: PMC6548227.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    68. Jeong HH, Kim SY, Rousseaux MWC, Zoghbi HY, Liu Z. Beta-binomial modeling of CRISPR pooled screen data identifies target genes with greater sensitivity and fewer false negatives. Genome Res. 2019 Jun; 29(6):999-1008. PMID: 31015259; PMCID: PMC6581060.
      Citations: 13     Fields:    Translation:Cells
    69. Wang L, Adamski CJ, Bondar VV, Craigen E, Collette JR, Pang K, Han K, Jain A, Y Jung S, Liu Z, Sifers RN, Holder JL, Zoghbi HY. A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. Mol Psychiatry. 2020 10; 25(10):2504-2516. PMID: 30696942; PMCID: PMC6663662.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    70. Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL, Zoghbi HY. An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry. 2020 10; 25(10):2534-2555. PMID: 30610205; PMCID: PMC6609509.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    71. Friedrich J, Kordasiewicz HB, O'Callaghan B, Handler HP, Wagener C, Duvick L, Swayze EE, Rainwater O, Hofstra B, Benneyworth M, Nichols-Meade T, Yang P, Chen Z, Ortiz JP, Clark HB, Larson S, Zoghbi HY, Henzler C, Orr HT, ?z G. Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles. JCI Insight. 2018 11 02; 3(21). PMID: 30385727; PMCID: PMC6238731.
      Citations: 41     Fields:    Translation:AnimalsCells
    72. De Maio A, Yalamanchili HK, Adamski CJ, Gennarino VA, Liu Z, Qin J, Jung SY, Richman R, Orr H, Zoghbi HY. RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins. Cell Rep. 2018 10 16; 25(3):726-736.e7. PMID: 30332651; PMCID: PMC6292215.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    73. Rousseaux MWC, Al-Ramahi I, Jeong HH, Bajic A, Revelli JP, Ye H, Phan ET, Deger JM, Perez AM, Kim JY, Lavery LA, Xu Q, Li MZ, Kang H, Kim JJ, Shulman JM, Westbrook TF, Elledge SJ, Liu Z, Botas J, Zoghbi HY, V?zquez-V?lez GE. A Druggable Genome Screen Identifies Modifiers of a-Synuclein Levels via a Tiered Cross-Species Validation Approach. J Neurosci. 2018 10 24; 38(43):9286-9301. PMID: 30249792; PMCID: PMC6199406.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    74. Bondar VV, Adamski CJ, Onur TS, Tan Q, Wang L, Diaz-Garcia J, Park J, Orr HT, Botas J, Zoghbi HY. PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1. Hum Mol Genet. 2018 08 15; 27(16):2863-2873. PMID: 29860311; PMCID: PMC6077814.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    75. Raman AT, Pohodich AE, Wan YW, Yalamanchili HK, Lowry WE, Zoghbi HY, Liu Z. Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations. Nat Commun. 2018 08 13; 9(1):3225. PMID: 30104565; PMCID: PMC6089998.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    76. Ash RT, Fahey PG, Park J, Zoghbi HY, Smirnakis SM. Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome. eNeuro. 2018 May-Jun; 5(3). PMID: 30105297; PMCID: PMC6086213.
      Citations: 10     Fields:    Translation:AnimalsCells
    77. Kee SE, Mou X, Zoghbi HY, Ji D. Impaired spatial memory codes in a mouse model of Rett syndrome. Elife. 2018 07 20; 7. PMID: 30028675; PMCID: PMC6054527.
      Citations: 10     Fields:    Translation:Animals
    78. Tan Q, Zoghbi HY. Mouse models as a tool for discovering new neurological diseases. Neurobiol Learn Mem. 2019 11; 165:106902. PMID: 30030131.
      Citations: 5     Fields:    Translation:HumansAnimals
    79. van der Heijden ME, Zoghbi HY. Loss of Atoh1 from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice. Elife. 2018 07 04; 7. PMID: 29972353; PMCID: PMC6067883.
      Citations: 17     Fields:    Translation:AnimalsCells
    80. Rousseaux MW, Revelli JP, Kim JY, Craigen E, Gonzales K, Beckinghausen J, Zoghbi HY, V?zquez-V?lez GE. Depleting Trim28 in adult mice is well tolerated and reduces levels of a-synuclein and tau. Elife. 2018 06 04; 7. PMID: 29863470; PMCID: PMC5993537.
      Citations: 18     Fields:    Translation:AnimalsCells
    81. Ito-Ishida A, Yamalanchili HK, Shao Y, Baker SA, Heckman LD, Lavery LA, Kim JY, Lombardi LM, Sun Y, Liu Z, Zoghbi HY. Genome-wide distribution of linker histone H1.0 is independent of MeCP2. Nat Neurosci. 2018 06; 21(6):794-798. PMID: 29802390; PMCID: PMC6099063.
      Citations: 9     Fields:    Translation:AnimalsCells
    82. Mollema N, Toker N, Adamski CJ, O'Callaghan B, Duvick L, Friedrich J, Walters MA, Strasser J, Hawkinson JE, Zoghbi HY, Henzler C, Orr HT, Lagalwar S, P?rez Ortiz JM. Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model. Neurobiol Dis. 2018 08; 116:93-105. PMID: 29758256; PMCID: PMC6028938.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    83. Pohodich AE, Yalamanchili H, Raman AT, Wan YW, Gundry M, Hao S, Jin H, Tang J, Liu Z, Zoghbi HY. Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity. Elife. 2018 03 23; 7. PMID: 29570050; PMCID: PMC5906096.
      Citations: 22     Fields:    Translation:AnimalsCells
    84. Rousseaux MWC, Tschumperlin T, Lu HC, Lackey EP, Bondar VV, Wan YW, Tan Q, Adamski CJ, Friedrich J, Twaroski K, Chen W, Tolar J, Henzler C, Sharma A, Bajic A, Lin T, Duvick L, Liu Z, Sillitoe RV, Zoghbi HY, Orr HT. ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. 2018 03 21; 97(6):1235-1243.e5. PMID: 29526553; PMCID: PMC6422678.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    85. Orengo JP, van der Heijden ME, Hao S, Tang J, Orr HT, Zoghbi HY. Motor neuron degeneration correlates with respiratory dysfunction in SCA1. Dis Model Mech. 2018 02 26; 11(2). PMID: 29419414; PMCID: PMC5894948.
      Citations: 13     Fields:    Translation:AnimalsCells
    86. Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL, Zoghbi HY. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11. PMID: 29474920; PMCID: PMC5832058.
      Citations: 48     Fields:    Translation:HumansAnimalsCells
    87. Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, Cummock SE, Tao H, Pang K, Liu Z, Pereira FA, Samaco RC, Zoghbi HY, Xue M, Schaaf CP. Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. Am J Hum Genet. 2018 02 01; 102(2):296-308. PMID: 29395075; PMCID: PMC5985472.
      Citations: 19     Fields:    Translation:AnimalsCells
    88. Tan Q, Brunetti L, Rousseaux MWC, Lu HC, Wan YW, Revelli JP, Liu Z, Goodell MA, Zoghbi HY. Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma. Proc Natl Acad Sci U S A. 2018 02 13; 115(7):E1511-E1519. PMID: 29382756; PMCID: PMC5816173.
      Citations: 17     Fields:    Translation:AnimalsCells
    89. Klisch TJ, Vainshtein A, Patel AJ, Zoghbi HY. Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth. Elife. 2017 11 23; 6. PMID: 29168692; PMCID: PMC5736349.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    90. Jeong HH, Kim SY, Rousseaux MWC, Zoghbi HY, Liu Z. CRISPRcloud: a secure cloud-based pipeline for CRISPR pooled screen deconvolution. Bioinformatics. 2017 Sep 15; 33(18):2963-2965. PMID: 28541456; PMCID: PMC5870715.
      Citations: 10     Fields:    Translation:Cells
    91. Lombardi LM, Zaghlula M, Sztainberg Y, Baker SA, Klisch TJ, Tang AA, Huang EJ, Zoghbi HY. An RNA interference screen identifies druggable regulators of MeCP2 stability. Sci Transl Med. 2017 Aug 23; 9(404). PMID: 28835516; PMCID: PMC5736385.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    92. Xie WR, Jen HI, Seymour ML, Yeh SY, Pereira FA, Groves AK, Klisch TJ, Zoghbi HY. An Atoh1-S193A Phospho-Mutant Allele Causes Hearing Deficits and Motor Impairment. J Neurosci. 2017 09 06; 37(36):8583-8594. PMID: 28729444; PMCID: PMC6596675.
      Citations: 13     Fields:    Translation:AnimalsCells
    93. Zoghbi HY. Solving the puzzle of neurological diseases: an interview with Huda Zoghbi. Dis Model Mech. 2017 05 01; 10(5):503-507. PMID: 28468936; PMCID: PMC5451176.
      Citations: 1     Fields:    Translation:HumansAnimals
    94. Yeh SY, Huang WH, Wang W, Ward CS, Chao ES, Wu Z, Tang B, Tang J, Sun JJ, Esther van der Heijden M, Gray PA, Xue M, Ray RS, Ren D, Zoghbi HY. Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn. Neuron. 2017 Apr 19; 94(2):294-303.e4. PMID: 28392070; PMCID: PMC5702257.
      Citations: 25     Fields:    Translation:AnimalsCells
    95. Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY, Van Maldergem L. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Apr; 49(4):527-536. PMID: 28288114; PMCID: PMC5374026.
      Citations: 49     Fields:    Translation:HumansAnimals
    96. Rousseaux MW, Maity S, Zoghbi HY, Jung SY, Choi JM, Malovannaya A, Kim JJ, Kutzera J, Wang Y, Huang Y, Zhu W, Qin J. An Anatomically Resolved Mouse Brain Proteome Reveals Parkinson Disease-relevant Pathways. Mol Cell Proteomics. 2017 04; 16(4):581-593. PMID: 28153913; PMCID: PMC5383780.
      Citations: 29     Fields:    Translation:HumansAnimals
    97. Bhat N, Park J, Zoghbi HY, Arthur JS, Zaret KS. The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development. PLoS One. 2016; 11(12):e0166703. PMID: 27973548; PMCID: PMC5156359.
      Citations: 3     Fields:    Translation:AnimalsCells
    98. Tan Q, Yalamanchili HK, Park J, De Maio A, Lu HC, Wan YW, White JJ, Bondar VV, Sayegh LS, Liu X, Gao Y, Sillitoe RV, Orr HT, Liu Z, Zoghbi HY. Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models. Hum Mol Genet. 2016 12 01; 25(23):5083-5093. PMID: 28007900; PMCID: PMC5968355.
      Citations: 42     Fields:    Translation:HumansAnimalsCells
    99. Katsnelson A, De Strooper B, Zoghbi HY. Neurodegeneration: From cellular concepts to clinical applications. Sci Transl Med. 2016 11 09; 8(364):364ps18. PMID: 27831899.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    100. Sztainberg Y, Zoghbi HY. Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci. 2016 10 26; 19(11):1408-1417. PMID: 27786181.
      Citations: 84     Fields:    Translation:HumansAnimals
    101. Rousseaux MW, de Haro M, Lasagna-Reeves CA, De Maio A, Park J, Jafar-Nejad P, Al-Ramahi I, Sharma A, See L, Lu N, Vilanova-Velez L, Klisch TJ, Westbrook TF, Troncoso JC, Botas J, Zoghbi HY. TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau. Elife. 2016 10 25; 5. PMID: 27779468; PMCID: PMC5104516.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    102. Zoghbi HY. Rett Syndrome and the Ongoing Legacy of Close Clinical Observation. Cell. 2016 Oct 06; 167(2):293-297. PMID: 27716498.
      Citations: 16     Fields:    Translation:Humans
    103. Lasagna-Reeves CA, de Haro M, Hao S, Park J, Rousseaux MW, Al-Ramahi I, Jafar-Nejad P, Vilanova-Velez L, See L, De Maio A, Nitschke L, Wu Z, Troncoso JC, Westbrook TF, Tang J, Botas J, Zoghbi HY. Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model. Neuron. 2016 Oct 19; 92(2):407-418. PMID: 27720485; PMCID: PMC5745060.
      Citations: 48     Fields:    Translation:HumansAnimalsCells
    104. Lu H, Ash RT, He L, Kee SE, Wang W, Yu D, Hao S, Meng X, Ure K, Ito-Ishida A, Tang B, Sun Y, Ji D, Tang J, Arenkiel BR, Smirnakis SM, Zoghbi HY. Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model. Neuron. 2016 Aug 17; 91(4):739-747. PMID: 27499081; PMCID: PMC5019177.
      Citations: 48     Fields:    Translation:AnimalsCells
    105. Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, Meehan RR. A Mutant Form of MeCP2 Protein Associated with Human Rett Syndrome Cannot Be Displaced from Methylated DNA by Notch in Xenopus Embryos. Mol Cell. 2016 Jul 07; 63(1):179. PMID: 27392147.
      Citations:    Fields:    
    106. Meng X, Wang W, Lu H, He LJ, Chen W, Chao ES, Fiorotto ML, Tang B, Herrera JA, Seymour ML, Neul JL, Pereira FA, Tang J, Xue M, Zoghbi HY. Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders. Elife. 2016 06 21; 5. PMID: 27328325; PMCID: PMC4946906.
      Citations: 47     Fields:    Translation:AnimalsCells
    107. Ure K, Lu H, Wang W, Ito-Ishida A, Wu Z, He LJ, Sztainberg Y, Chen W, Tang J, Zoghbi HY. Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. Elife. 2016 06 21; 5. PMID: 27328321; PMCID: PMC4946897.
      Citations: 51     Fields:    Translation:AnimalsCells
    108. Ingram M, Wozniak EAL, Duvick L, Yang R, Bergmann P, Carson R, O'Callaghan B, Zoghbi HY, Henzler C, Orr HT. Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways. Neuron. 2016 Mar 16; 89(6):1194-1207. PMID: 26948890; PMCID: PMC4795980.
      Citations: 50     Fields:    Translation:AnimalsCells
    109. Zoghbi HY, Beaudet AL. Epigenetics and Human Disease. Cold Spring Harb Perspect Biol. 2016 Feb 01; 8(2):a019497. PMID: 26834142; PMCID: PMC4743078.
      Citations: 70     Fields:    Translation:Humans
    110. Quan XJ, Yuan L, Claeys A, De Geest N, Yan J, van der Kant R, Xie WR, Klisch TJ, Shymkowitz J, Rousseau F, Bollen M, Beullens M, Zoghbi HY, Hassan BA, Tiberi L, Vanderhaeghen P. Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis. Cell. 2016 Jan 28; 164(3):460-75. PMID: 26824657.
      Citations: 26     Fields:    Translation:AnimalsCells
    111. Lasagna-Reeves CA, Rousseaux MW, Guerrero-Munoz MJ, Vilanova-Velez L, Park J, See L, Jafar-Nejad P, Richman R, Orr HT, Kayed R, Zoghbi HY. Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes. Elife. 2015 Dec 17; 4. PMID: 26673892; PMCID: PMC4821792.
      Citations: 12     Fields:    Translation:Animals
    112. Sztainberg Y, Chen HM, Swann JW, Hao S, Tang B, Wu Z, Tang J, Wan YW, Liu Z, Rigo F, Zoghbi HY. Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature. 2015 Dec 03; 528(7580):123-6. PMID: 26605526; PMCID: PMC4839300.
      Citations: 74     Fields:    Translation:HumansAnimalsCells
    113. Ito-Ishida A, Ure K, Chen H, Swann JW, Zoghbi HY. Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes. Neuron. 2015 Nov 18; 88(4):651-8. PMID: 26590342; PMCID: PMC4656196.
      Citations: 78     Fields:    Translation:AnimalsCells
    114. Hao S, Tang B, Wu Z, Ure K, Sun Y, Tao H, Gao Y, Patel AJ, Curry DJ, Samaco RC, Zoghbi HY, Tang J. Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice. Nature. 2015 Oct 15; 526(7573):430-4. PMID: 26469053; PMCID: PMC4828032.
      Citations: 71     Fields:    Translation:Animals
    115. Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Roney EK, Smith JL, Cheung SW, Li W, Neilson JR, Schaaf CP, Zoghbi HY, Horovitz DD. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 2015 Aug 27; 4. PMID: 26312503; PMCID: PMC4586391.
      Citations: 38     Fields:    Translation:HumansCells
    116. Baker SA, Lombardi LM, Zoghbi HY. Karyopherin a 3 and karyopherin a 4 proteins mediate the nuclear import of methyl-CpG binding protein 2. J Biol Chem. 2015 Sep 11; 290(37):22485-93. PMID: 26245896; PMCID: PMC4566224.
      Citations: 10     Fields:    Translation:HumansCells
    117. Lombardi LM, Baker SA, Zoghbi HY. MECP2 disorders: from the clinic to mice and back. J Clin Invest. 2015 Aug 03; 125(8):2914-23. PMID: 26237041; PMCID: PMC4563741.
      Citations: 95     Fields:    Translation:HumansAnimalsCells
    118. Pohodich AE, Zoghbi HY. Rett syndrome: disruption of epigenetic control of postnatal neurological functions. Hum Mol Genet. 2015 Oct 15; 24(R1):R10-6. PMID: 26060191; PMCID: PMC4571996.
      Citations: 25     Fields:    Translation:HumansCells
    119. Lasagna-Reeves CA, Rousseaux MW, Park J, Jafar-Nejad P, Richman R, Lu N, Sengupta U, Litvinchuk A, Orr HT, Kayed R, Zoghbi HY, Guerrero-Mu?oz MJ. A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1. Elife. 2015 May 19; 4. PMID: 25988806; PMCID: PMC4462648.
      Citations: 15     Fields:    Translation:Animals
    120. Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci U S A. 2015 Apr 28; 112(17):5509-14. PMID: 25870282; PMCID: PMC4418849.
      Citations: 132     Fields:    Translation:AnimalsCells
    121. Cai T, Jen HI, Kang H, Klisch TJ, Zoghbi HY, Groves AK. Characterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factor. J Neurosci. 2015 Apr 08; 35(14):5870-83. PMID: 25855195; PMCID: PMC4388939.
      Citations: 76     Fields:    Translation:AnimalsCells
    122. Gennarino VA, Singh RK, White JJ, De Maio A, Han K, Kim JY, Jafar-Nejad P, di Ronza A, Kang H, Sayegh LS, Cooper TA, Sillitoe RV, Zoghbi HY, Orr HT. Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels. Cell. 2015 Mar 12; 160(6):1087-98. PMID: 25768905; PMCID: PMC4383046.
      Citations: 74     Fields:    Translation:HumansAnimalsCells
    123. Rousseaux MW, Zoghbi HY. Deep brain stimulation for Parkinson disease: the 2014 Lasker-DeBakey Clinical Medical Research Award. JAMA Neurol. 2015 Mar; 72(3):259-60. PMID: 25560048.
      Citations:    Fields:    Translation:HumansAnimals
    124. Kim E, Park S, Choi N, Lee J, Yoe J, Kim S, Jung HY, Kim KT, Kang H, Fryer JD, Zoghbi HY, Hwang D, Lee Y. Deficiency of Capicua disrupts bile acid homeostasis. Sci Rep. 2015 Feb 05; 5:8272. PMID: 25653040; PMCID: PMC4317698.
      Citations: 18     Fields:    Translation:Animals
    125. Han K, Chen H, Gennarino VA, Richman R, Lu HC, Zoghbi HY. Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice. Hum Mol Genet. 2015 Apr 01; 24(7):1813-23. PMID: 25432536; PMCID: PMC4355018.
      Citations: 29     Fields:    Translation:HumansAnimalsCells
    126. Zoghbi HY. From anatomy to electrophysiology: clinical Lasker goes deep. Cell. 2014 Sep 11; 158(6):1225-1229. PMID: 25215480.
      Citations:    Fields:    Translation:Humans
    127. Heckman LD, Chahrour MH, Zoghbi HY. Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife. 2014 Jun 26; 3. PMID: 24970834; PMCID: PMC4102243.
      Citations: 45     Fields:    Translation:HumansAnimalsCells
    128. Tupal S, Huang WH, Picardo MC, Ling GY, Del Negro CA, Zoghbi HY, Gray PA. Atoh1-dependent rhombic lip neurons are required for temporal delay between independent respiratory oscillators in embryonic mice. Elife. 2014 May 14; 3:e02265. PMID: 24842997; PMCID: PMC4060005.
      Citations: 20     Fields:    Translation:AnimalsCells
    129. Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R, FORGE Canada Consortium, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct; 16(10):751-8. PMID: 24651605; PMCID: PMC4243708.
      Citations: 82     Fields:    Translation:HumansCells
    130. Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Brief report: MECP2 mutations in people without Rett syndrome. J Autism Dev Disord. 2014 Mar; 44(3):703-11. PMID: 23921973; PMCID: PMC3880396.
      Citations: 12     Fields:    Translation:Humans
    131. Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, Baylor-Hopkins Center for Mendelian Genomics, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP, Bosch DG, Boonstra FN. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9. PMID: 24462372; PMCID: PMC3928641.
      Citations: 39     Fields:    Translation:HumansCells
    132. Jiang M, Ash RT, Baker SA, Suter B, Ferguson A, Park J, Rudy J, Torsky SP, Chao HT, Zoghbi HY, Smirnakis SM. Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome. J Neurosci. 2013 Dec 11; 33(50):19518-33. PMID: 24336718; PMCID: PMC3858623.
      Citations: 67     Fields:    Translation:AnimalsCells
    133. Han K, Holder JL, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, Zoghbi HY. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Nov 07; 503(7474):72-7. PMID: 24153177; PMCID: PMC3923348.
      Citations: 157     Fields:    Translation:HumansAnimalsCells
    134. Perroud B, Jafar-Nejad P, Wikoff WR, Gatchel JR, Wang L, Barupal DK, Crespo-Barreto J, Fiehn O, Zoghbi HY, Kaddurah-Daouk R. Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects. PLoS One. 2013; 8(8):e70610. PMID: 23936457; PMCID: PMC3732229.
      Citations: 5     Fields:    Translation:Animals
    135. Zoghbi H, Nybo K. Scientists. Curiosity and observation. Biotechniques. 2013 Aug; 55(2):53. PMID: 24079024.
      Citations:    Fields:    Translation:Humans
    136. Ju H, Kokubu H, Todd TW, Kahle JJ, Kim S, Richman R, Chirala K, Orr HT, Zoghbi HY, Lim J. Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1. J Neurosci. 2013 May 29; 33(22):9328-36. PMID: 23719801; PMCID: PMC3710458.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    137. Park J, Al-Ramahi I, Tan Q, Mollema N, Diaz-Garcia JR, Gallego-Flores T, Lu HC, Lagalwar S, Duvick L, Kang H, Lee Y, Jafar-Nejad P, Sayegh LS, Richman R, Liu X, Gao Y, Shaw CA, Arthur JSC, Orr HT, Westbrook TF, Botas J, Zoghbi HY. RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1. Nature. 2013 Jun 20; 498(7454):325-331. PMID: 23719381; PMCID: PMC4020154.
      Citations: 74     Fields:    Translation:HumansAnimalsCells
    138. Kahle JJ, Souroullas GP, Yu P, Zohren F, Lee Y, Shaw CA, Zoghbi HY, Goodell MA. Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery. PLoS Genet. 2013 Mar; 9(3):e1003359. PMID: 23555280; PMCID: PMC3610904.
      Citations: 1     Fields:    Translation:AnimalsCells
    139. Ebner BA, Ingram MA, Barnes JA, Duvick LA, Frisch JL, Clark HB, Zoghbi HY, Ebner TJ, Orr HT. Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum. J Neurosci. 2013 Mar 27; 33(13):5806-20. PMID: 23536093; PMCID: PMC3633086.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    140. Kim E, Lu HC, Zoghbi HY, Song JJ. Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein Ataxin-1 and Capicua. Genes Dev. 2013 Mar 15; 27(6):590-5. PMID: 23512657; PMCID: PMC3613606.
      Citations: 22     Fields:    Translation:HumansCells
    141. Baker SA, Chen L, Wilkins AD, Yu P, Lichtarge O, Zoghbi HY. An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell. 2013 Feb 28; 152(5):984-96. PMID: 23452848; PMCID: PMC3641682.
      Citations: 102     Fields:    Translation:AnimalsCells
    142. Han K, Gennarino VA, Lee Y, Pang K, Hashimoto-Torii K, Choufani S, Raju CS, Oldham MC, Weksberg R, Rakic P, Liu Z, Zoghbi HY. Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes Dev. 2013 Mar 01; 27(5):485-90. PMID: 23431031; PMCID: PMC3605462.
      Citations: 59     Fields:    Translation:HumansCells
    143. Yang T, Ramocki MB, Neul JL, Lu W, Roberts L, Knight J, Ward CS, Zoghbi HY, Kheradmand F, Corry DB. Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses. Sci Transl Med. 2012 Dec 05; 4(163):163ra158. PMID: 23220634; PMCID: PMC3628825.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    144. Katz DM, Berger-Sweeney JE, Eubanks JH, Justice MJ, Neul JL, Pozzo-Miller L, Blue ME, Christian D, Crawley JN, Giustetto M, Guy J, Howell CJ, Kron M, Nelson SB, Samaco RC, Schaevitz LR, St Hillaire-Clarke C, Young JL, Zoghbi HY, Mamounas LA. Preclinical research in Rett syndrome: setting the foundation for translational success. Dis Model Mech. 2012 Nov; 5(6):733-45. PMID: 23115203; PMCID: PMC3484856.
      Citations: 106     Fields:    Translation:HumansAnimals
    145. McGraw CM, Ward CS, Sun Y, Neul JL, Zoghbi HY, Samaco RC. Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. Hum Mol Genet. 2013 Jan 01; 22(1):96-109. PMID: 23026749; PMCID: PMC3522402.
      Citations: 89     Fields:    Translation:Animals
    146. Hughes V, Sheng M, Zoghbi H. Childhood disorders of the synapse: challenges and opportunities. Sci Transl Med. 2012 Sep 19; 4(152):152ps17. PMID: 22993293.
      Citations:    Fields:    Translation:HumansCells
    147. Huang WH, Tupal S, Huang TW, Ward CS, Neul JL, Klisch TJ, Gray PA, Zoghbi HY. Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood. Neuron. 2012 Sep 06; 75(5):799-809. PMID: 22958821; PMCID: PMC3464459.
      Citations: 29     Fields:    Translation:HumansAnimals
    148. Zoghbi HY, Bear MF. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol. 2012 Mar 01; 4(3). PMID: 22258914; PMCID: PMC3282414.
      Citations: 323     Fields:    Translation:HumansAnimalsCells
    149. Chao HT, Zoghbi HY. MeCP2: only 100% will do. Nat Neurosci. 2012 Jan 26; 15(2):176-7. PMID: 22281712.
      Citations: 35     Fields:    Translation:HumansAnimals
    150. Samaco RC, Mandel-Brehm C, McGraw CM, Shaw CA, McGill BE, Zoghbi HY. Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat Genet. 2012 Jan 08; 44(2):206-11. PMID: 22231481; PMCID: PMC3267865.
      Citations: 70     Fields:    Translation:Animals
    151. Fryer JD, Yu P, Kang H, Mandel-Brehm C, Carter AN, Crespo-Barreto J, Gao Y, Flora A, Shaw C, Orr HT, Zoghbi HY. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science. 2011 Nov 04; 334(6056):690-3. PMID: 22053053; PMCID: PMC3232424.
      Citations: 80     Fields:    Translation:Animals
    152. Lee Y, Fryer JD, Kang H, Crespo-Barreto J, Bowman AB, Gao Y, Kahle JJ, Hong JS, Kheradmand F, Orr HT, Finegold MJ, Zoghbi HY. ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. Dev Cell. 2011 Oct 18; 21(4):746-57. PMID: 22014525; PMCID: PMC3253850.
      Citations: 57     Fields:    Translation:AnimalsCells
    153. Chen YC, Gatchel JR, Lewis RW, Mao CA, Grant PA, Zoghbi HY, Dent SY. Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model. Hum Mol Genet. 2012 Jan 15; 21(2):394-405. PMID: 22002997; PMCID: PMC3276287.
      Citations: 32     Fields:    Translation:AnimalsCells
    154. Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011 Oct 02; 43(11):1074-81. PMID: 21964572; PMCID: PMC3235474.
      Citations: 100     Fields:    Translation:HumansCells
    155. Zoghbi H. For Huda Zoghbi, collaboration is the key to unlocking the secrets of neurobiology. Interview by Kathryn Claiborn. J Clin Invest. 2011 Sep; 121(9):3364. PMID: 21991586; PMCID: PMC3163981.
      Citations:    Fields:    Translation:Humans
    156. Lai S, O'Callaghan B, Zoghbi HY, Orr HT. 14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus. J Biol Chem. 2011 Oct 07; 286(40):34606-16. PMID: 21835928; PMCID: PMC3186404.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    157. Lai HC, Klisch TJ, Roberts R, Zoghbi HY, Johnson JE. In vivo neuronal subtype-specific targets of Atoh1 (Math1) in dorsal spinal cord. J Neurosci. 2011 Jul 27; 31(30):10859-71. PMID: 21795538; PMCID: PMC3153066.
      Citations: 29     Fields:    Translation:AnimalsCells
    158. Schaaf CP, Zoghbi HY. Solving the autism puzzle a few pieces at a time. Neuron. 2011 Jun 09; 70(5):806-8. PMID: 21658575.
      Citations: 63     Fields:    
    159. Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE, Zoghbi HY. Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med. 2011 Jun 08; 3(86):86ra49. PMID: 21653829; PMCID: PMC3169432.
      Citations: 109     Fields:    Translation:HumansAnimalsCells
    160. McGraw CM, Samaco RC, Zoghbi HY. Adult neural function requires MeCP2. Science. 2011 Jul 08; 333(6039):186. PMID: 21636743; PMCID: PMC3150190.
      Citations: 127     Fields:    Translation:Animals
    161. Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 Sep 01; 20(17):3366-75. PMID: 21624971; PMCID: PMC3153303.
      Citations: 75     Fields:    Translation:Humans
    162. Gehrking KM, Andresen JM, Duvick L, Lough J, Zoghbi HY, Orr HT. Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model. Hum Mol Genet. 2011 Jun 01; 20(11):2204-12. PMID: 21427130; PMCID: PMC3090197.
      Citations: 33     Fields:    Translation:AnimalsCells
    163. Maricich SM, Aqeeb KA, Moayedi Y, Mathes EL, Patel MS, Chitayat D, Lyon G, Leroy JG, Zoghbi HY. Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. J Child Neurol. 2011 Mar; 26(3):288-94. PMID: 21383226.
      Citations: 6     Fields:    Translation:Humans
    164. Klisch TJ, Xi Y, Flora A, Wang L, Li W, Zoghbi HY. In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development. Proc Natl Acad Sci U S A. 2011 Feb 22; 108(8):3288-93. PMID: 21300888; PMCID: PMC3044384.
      Citations: 77     Fields:    Translation:AnimalsCells
    165. Jafar-Nejad P, Ward CS, Richman R, Orr HT, Zoghbi HY. Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proc Natl Acad Sci U S A. 2011 Feb 01; 108(5):2142-7. PMID: 21245341; PMCID: PMC3033247.
      Citations: 40     Fields:    Translation:HumansAnimalsCells
    166. Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Zoghbi HY, Barab?si AL. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Hum Mol Genet. 2011 Feb 01; 20(3):510-27. PMID: 21078624; PMCID: PMC3016911.
      Citations: 27     Fields:    Translation:HumansAnimalsCells
    167. Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010 Nov 11; 468(7321):263-9. PMID: 21068835; PMCID: PMC3057962.
      Citations: 585     Fields:    Translation:AnimalsCells
    168. Zoghbi HY, Warren ST. Neurogenetics: advancing the "next-generation" of brain research. Neuron. 2010 Oct 21; 68(2):165-73. PMID: 20955921; PMCID: PMC2982747.
      Citations: 22     Fields:    Translation:HumansAnimals
    169. Duvick L, Barnes J, Ebner B, Agrawal S, Andresen M, Lim J, Giesler GJ, Zoghbi HY, Orr HT. SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron. 2010 Sep 23; 67(6):929-35. PMID: 20869591; PMCID: PMC2946945.
      Citations: 84     Fields:    Translation:AnimalsCells
    170. Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet. 2010 Jul 08; 6(7):e1001021. PMID: 20628574; PMCID: PMC2900305.
      Citations: 69     Fields:    Translation:AnimalsCells
    171. White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, Wakamiya M, Edwards SF, Raskin S, Zoghbi HY, Sarkar PS, Ashizawa T, Teive HA. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet. 2010 Jun 10; 6(6):e1000984. PMID: 20548952; PMCID: PMC2883596.
      Citations: 64     Fields:    Translation:HumansCells
    172. Rose MF, Ahmad KA, Thaller C, Zoghbi HY. Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1. Proc Natl Acad Sci U S A. 2009 Dec 29; 106(52):22462-7. PMID: 20080794; PMCID: PMC2799716.
      Citations: 75     Fields:    Translation:AnimalsCells
    173. Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci U S A. 2009 Dec 22; 106(51):21966-71. PMID: 20007372; PMCID: PMC2799790.
      Citations: 121     Fields:    Translation:AnimalsCells
    174. Flora A, Klisch TJ, Schuster G, Zoghbi HY. Deletion of Atoh1 disrupts Sonic Hedgehog signaling in the developing cerebellum and prevents medulloblastoma. Science. 2009 Dec 04; 326(5958):1424-7. PMID: 19965762; PMCID: PMC3638077.
      Citations: 84     Fields:    Translation:AnimalsCells
    175. Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec; 66(6):771-82. PMID: 20035514; PMCID: PMC2801873.
      Citations: 140     Fields:    Translation:HumansCells
    176. Rose MF, Ren J, Ahmad KA, Chao HT, Klisch TJ, Flora A, Greer JJ, Zoghbi HY. Math1 is essential for the development of hindbrain neurons critical for perinatal breathing. Neuron. 2009 Nov 12; 64(3):341-54. PMID: 19914183; PMCID: PMC2818435.
      Citations: 87     Fields:    Translation:AnimalsCells
    177. Maricich SM, Xia A, Mathes EL, Wang VY, Oghalai JS, Fritzsch B, Zoghbi HY. Atoh1-lineal neurons are required for hearing and for the survival of neurons in the spiral ganglion and brainstem accessory auditory nuclei. J Neurosci. 2009 Sep 09; 29(36):11123-33. PMID: 19741118; PMCID: PMC2743121.
      Citations: 65     Fields:    Translation:AnimalsCells
    178. Maricich SM, Wellnitz SA, Nelson AM, Lesniak DR, Gerling GJ, Lumpkin EA, Zoghbi HY. Merkel cells are essential for light-touch responses. Science. 2009 Jun 19; 324(5934):1580-2. PMID: 19541997; PMCID: PMC2743005.
      Citations: 122     Fields:    Translation:AnimalsCells
    179. Jorgensen ND, Andresen JM, Lagalwar S, Armstrong B, Stevens S, Byam CE, Duvick LA, Lai S, Jafar-Nejad P, Zoghbi HY, Clark HB, Orr HT. Phosphorylation of ATXN1 at Ser776 in the cerebellum. J Neurochem. 2009 Jul; 110(2):675-86. PMID: 19500214; PMCID: PMC2754139.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    180. Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet. 2009 Jul 01; 18(13):2431-42. PMID: 19369296; PMCID: PMC2694691.
      Citations: 133     Fields:    Translation:HumansAnimals
    181. Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203. PMID: 19324899; PMCID: PMC2685756.
      Citations: 91     Fields:    Translation:HumansCells
    182. Chao HT, Zoghbi HY. The yin and yang of MeCP2 phosphorylation. Proc Natl Acad Sci U S A. 2009 Mar 24; 106(12):4577-8. PMID: 19293386; PMCID: PMC2660756.
      Citations: 20     Fields:    Translation:AnimalsCells
    183. Zoghbi HY. Rett syndrome: what do we know for sure? Nat Neurosci. 2009 Mar; 12(3):239-40. PMID: 19238181.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    184. Miesegaes GR, Klisch TJ, Thaller C, Ahmad KA, Atkinson RC, Zoghbi HY. Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development. Dev Biol. 2009 Mar 15; 327(2):339-51. PMID: 19135992; PMCID: PMC2729134.
      Citations: 17     Fields:    Translation:AnimalsCells
    185. Carlson KM, Melcher L, Lai S, Zoghbi HY, Clark HB, Orr HT. Characterization of the zebrafish atxn1/axh gene family. J Neurogenet. 2009; 23(3):313-23. PMID: 19085187; PMCID: PMC2722686.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    186. Zoghbi HY, Orr HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 Mar 20; 284(12):7425-9. PMID: 18957430; PMCID: PMC2658037.
      Citations: 110     Fields:    Translation:HumansAnimalsCells
    187. Ramocki MB, Zoghbi HY. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature. 2008 Oct 16; 455(7215):912-8. PMID: 18923513; PMCID: PMC2696622.
      Citations: 198     Fields:    Translation:HumansAnimalsCells
    188. Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, Zoghbi HY. Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron. 2008 Sep 25; 59(6):947-58. PMID: 18817733; PMCID: PMC2597031.
      Citations: 135     Fields:    Translation:AnimalsCells
    189. Cukier HN, Perez AM, Collins AL, Zhou Z, Zoghbi HY, Botas J. Genetic modifiers of MeCP2 function in Drosophila. PLoS Genet. 2008 Sep 05; 4(9):e1000179. PMID: 18773074; PMCID: PMC2518867.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    190. Lee Y, Samaco RC, Gatchel JR, Thaller C, Orr HT, Zoghbi HY. miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis. Nat Neurosci. 2008 Oct; 11(10):1137-9. PMID: 18758459; PMCID: PMC2574629.
      Citations: 100     Fields:    Translation:HumansAnimalsCells
    191. Watase K, Barrett CF, Miyazaki T, Ishiguro T, Ishikawa K, Hu Y, Unno T, Sun Y, Kasai S, Watanabe M, Gomez CM, Mizusawa H, Tsien RW, Zoghbi HY. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11987-92. PMID: 18687887; PMCID: PMC2503926.
      Citations: 73     Fields:    Translation:AnimalsCells
    192. Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008 May 30; 320(5880):1224-9. PMID: 18511691; PMCID: PMC2443785.
      Citations: 868     Fields:    Translation:AnimalsCells
    193. Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008 Apr 15; 70(16):1313-21. PMID: 18337588; PMCID: PMC2677974.
      Citations: 187     Fields:    Translation:Humans
    194. Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, Hill DE, Orr HT, Zoghbi HY. Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature. 2008 Apr 10; 452(7188):713-8. PMID: 18337722; PMCID: PMC2377396.
      Citations: 174     Fields:    Translation:HumansAnimalsCells
    195. Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet. 2008 Jun 15; 17(12):1718-27. PMID: 18321864; PMCID: PMC2666042.
      Citations: 121     Fields:    Translation:HumansAnimals
    196. Gatchel JR, Watase K, Thaller C, Carson JP, Jafar-Nejad P, Shaw C, Zu T, Orr HT, Zoghbi HY. The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci U S A. 2008 Jan 29; 105(4):1291-6. PMID: 18216249; PMCID: PMC2234131.
      Citations: 44     Fields:    Translation:AnimalsCells
    197. Al-Ramahi I, Lim J, Zhang M, Sorensen R, de Haro M, Branco J, Pulst SM, Zoghbi HY, Botas J, P?rez AM. dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. PLoS Genet. 2007 Dec 28; 3(12):e234. PMID: 18166084; PMCID: PMC2323314.
      Citations: 53     Fields:    Translation:Animals
    198. Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 08; 56(3):422-37. PMID: 17988628.
      Citations: 555     Fields:    Translation:HumansAnimals
    199. Chao HT, Zoghbi HY, Rosenmund C. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 2007 Oct 04; 56(1):58-65. PMID: 17920015; PMCID: PMC2198899.
      Citations: 251     Fields:    Translation:AnimalsCells
    200. Flora A, Garcia JJ, Thaller C, Zoghbi HY. The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci U S A. 2007 Sep 25; 104(39):15382-7. PMID: 17878293; PMCID: PMC1978485.
      Citations: 93     Fields:    Translation:AnimalsCells
    201. Kang D, Zoghbi HY, Young JI, Alvarez-Saavedra M, S?ez MA. Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. Hum Mol Genet. 2007 Oct 01; 16(19):2315-25. PMID: 17635839.
      Citations: 33     Fields:    Translation:HumansAnimalsCells
    202. Cvetanovic M, Rooney RJ, Garcia JJ, Toporovskaya N, Zoghbi HY, Opal P. The role of LANP and ataxin 1 in E4F-mediated transcriptional repression. EMBO Rep. 2007 Jul; 8(7):671-7. PMID: 17557114; PMCID: PMC1905893.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    203. Jorgensen ND, Andresen JM, Pitt JE, Swenson MA, Zoghbi HY, Orr HT. Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1. J Neurochem. 2007 Sep; 102(6):2040-2048. PMID: 17540008.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    204. Watase K, Gatchel JR, Sun Y, Emamian E, Atkinson R, Richman R, Mizusawa H, Orr HT, Shaw C, Zoghbi HY. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med. 2007 May; 4(5):e182. PMID: 17535104; PMCID: PMC1880853.
      Citations: 72     Fields:    Translation:AnimalsCells
    205. Shroyer NF, Helmrath MA, Wang VY, Antalffy B, Henning SJ, Zoghbi HY. Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis. Gastroenterology. 2007 Jun; 132(7):2478-88. PMID: 17570220.
      Citations: 161     Fields:    Translation:Animals
    206. Bowman AB, Lam YC, Jafar-Nejad P, Chen HK, Richman R, Samaco RC, Fryer JD, Kahle JJ, Orr HT, Zoghbi HY. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet. 2007 Mar; 39(3):373-9. PMID: 17322884.
      Citations: 44     Fields:    Translation:AnimalsCells
    207. Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci. 2007; 30:575-621. PMID: 17417937.
      Citations: 681     Fields:    Translation:HumansAnimalsCells
    208. Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, Zoghbi HY. ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell. 2006 Dec 29; 127(7):1335-47. PMID: 17190598.
      Citations: 169     Fields:    Translation:HumansAnimalsCells
    209. del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92. PMID: 17172942.
      Citations: 121     Fields:    Translation:HumansCells
    210. Serra HG, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, Lysholm A, Burright E, Zoghbi HY, Clark HB, Andresen JM, Orr HT. RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell. 2006 Nov 17; 127(4):697-708. PMID: 17110330.
      Citations: 117     Fields:    Translation:HumansAnimalsCells
    211. McGill BE, Bundle SF, Yaylaoglu MB, Carson JP, Thaller C, Zoghbi HY. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2006 Nov 28; 103(48):18267-72. PMID: 17108082; PMCID: PMC1636379.
      Citations: 100     Fields:    Translation:AnimalsCells
    212. Fryer JD, Zoghbi HY. Huntingtin's critical cleavage. Nat Neurosci. 2006 Sep; 9(9):1088-9. PMID: 16936769.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    213. Maricich SM, Zoghbi HY. Getting back to basics. Cell. 2006 Jul 14; 126(1):11-5. PMID: 16839867.
      Citations:    Fields:    Translation:HumansAnimals
    214. Al-Ramahi I, Lam YC, Chen HK, de Gouyon B, Zhang M, Branco J, de Haro M, Patterson C, Zoghbi HY, Botas J, P?rez AM. CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation. J Biol Chem. 2006 Sep 08; 281(36):26714-24. PMID: 16831871.
      Citations: 90     Fields:    Translation:HumansAnimalsCells
    215. Lim J, Hao T, Shaw C, Patel AJ, Fisk CJ, Li N, Smolyar A, Hill DE, Vidal M, Zoghbi HY, Szab? G, Rual JF, Barab?si AL. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell. 2006 May 19; 125(4):801-14. PMID: 16713569.
      Citations: 362     Fields:    Translation:HumansAnimalsCells
    216. Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev. 2006 Jun; 16(3):276-81. PMID: 16647848.
      Citations: 110     Fields:    Translation:HumansAnimals
    217. Hardy S, Abou-Sleymane G, Eberlin A, Bowman AB, Picaud S, Zoghbi HY, Trottier Y, Devys D, Helmlinger D, Gansm?ller A, Tora L. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol. 2006 Mar; 4(3):e67. PMID: 16494529; PMCID: PMC1382020.
      Citations: 76     Fields:    Translation:AnimalsCells
    218. Moretti P, Levenson JM, Battaglia F, Atkinson R, Teague R, Antalffy B, Armstrong D, Arancio O, Sweatt JD, Zoghbi HY. Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci. 2006 Jan 04; 26(1):319-27. PMID: 16399702; PMCID: PMC6674314.
      Citations: 272     Fields:    Translation:AnimalsCells
    219. Zoghbi HY. SILencing misbehaving proteins. Nat Genet. 2005 Dec; 37(12):1302-3. PMID: 16314860.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    220. Young JI, Hong EP, Castle JC, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson JM, Berget S, Zoghbi HY. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci U S A. 2005 Dec 06; 102(49):17551-8. PMID: 16251272; PMCID: PMC1266160.
      Citations: 196     Fields:    Translation:HumansAnimalsCells
    221. Shroyer NF, Wallis D, Venken KJ, Bellen HJ, Zoghbi HY. Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation. Genes Dev. 2005 Oct 15; 19(20):2412-7. PMID: 16230531; PMCID: PMC1257395.
      Citations: 140     Fields:    Translation:AnimalsCells
    222. Wang VY, Rose MF, Zoghbi HY. Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron. 2005 Oct 06; 48(1):31-43. PMID: 16202707.
      Citations: 231     Fields:    Translation:AnimalsCells
    223. Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet. 2005 Oct; 6(10):743-55. PMID: 16205714.
      Citations: 327     Fields:    Translation:HumansCells
    224. Venkatesan K, Hao T, Hirozane-Kishikawa T, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M, Rual JF, Dricot A. Towards a proteome-scale map of the human protein-protein interaction network. Nature. 2005 Oct 20; 437(7062):1173-8. PMID: 16189514.
      Citations: 1188     Fields:    Translation:HumansAnimalsCells
    225. Zoghbi HY. MeCP2 dysfunction in humans and mice. J Child Neurol. 2005 Sep; 20(9):736-40. PMID: 16225828.
      Citations: 33     Fields:    Translation:HumansAnimals
    226. Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen HK, Rose MF, Venken KJ, Botas J, Orr HT, Bellen HJ, Zoghbi HY. The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell. 2005 Aug 26; 122(4):633-44. PMID: 16122429.
      Citations: 97     Fields:    Translation:AnimalsCells
    227. Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12; 64(7):1258-60. PMID: 15824357.
      Citations: 26     Fields:    Translation:HumansCells
    228. Riley BE, Zoghbi HY, Orr HT. SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal. J Biol Chem. 2005 Jun 10; 280(23):21942-8. PMID: 15824120.
      Citations: 37     Fields:    Translation:AnimalsCells
    229. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR, Gl?ckner G, M?ller I, Rosenthal A. The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37. PMID: 15772651; PMCID: PMC2665286.
      Citations: 433     Fields:    Translation:HumansAnimalsCells
    230. Kaytor MD, Byam CE, Tousey SK, Stevens SD, Zoghbi HY, Orr HT. A cell-based screen for modulators of ataxin-1 phosphorylation. Hum Mol Genet. 2005 Apr 15; 14(8):1095-105. PMID: 15757972.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    231. Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet. 2005 Feb; 42(2):e15. PMID: 15689438; PMCID: PMC1735975.
      Citations: 18     Fields:    Translation:Humans
    232. Bowman AB, Yoo SY, Dantuma NP, Zoghbi HY. Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Hum Mol Genet. 2005 Mar 01; 14(5):679-91. PMID: 15661755.
      Citations: 75     Fields:    Translation:AnimalsCells
    233. Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY. Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet. 2005 Jan 15; 14(2):205-20. PMID: 15548546.
      Citations: 160     Fields:    Translation:Animals
    234. Vierra-Green CA, Orr HT, Zoghbi HY, Ferrington DA. Identification of a novel phosphorylation site in ataxin-1. Biochim Biophys Acta. 2005 May 15; 1744(1):11-8. PMID: 15878393.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    235. Zu T, Duvick LA, Kaytor MD, Berlinger MS, Zoghbi HY, Clark HB, Orr HT. Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J Neurosci. 2004 Oct 06; 24(40):8853-61. PMID: 15470152; PMCID: PMC6729947.
      Citations: 121     Fields:    Translation:AnimalsCells
    236. Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, David Sweatt J, Zoghbi HY. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004 Nov 01; 13(21):2679-89. PMID: 15351775.
      Citations: 253     Fields:    Translation:HumansAnimalsCells
    237. Serra HG, Byam CE, Lande JD, Tousey SK, Zoghbi HY, Orr HT. Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. Hum Mol Genet. 2004 Oct 15; 13(20):2535-43. PMID: 15317756.
      Citations: 96     Fields:    Translation:AnimalsCells
    238. Riley BE, Xu Y, Zoghbi HY, Orr HT. The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1Up. J Biol Chem. 2004 Oct 01; 279(40):42290-301. PMID: 15280365.
      Citations: 23     Fields:    Translation:AnimalsCells
    239. Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet. 2004 Jun; 74(6):1216-24. PMID: 15127363; PMCID: PMC1182085.
      Citations: 28     Fields:    Translation:HumansCellsPHPublic Health
    240. Opal P, Garcia JJ, McCall AE, Xu B, Weeber EJ, Sweatt JD, Orr HT, Zoghbi HY. Generation and characterization of LANP/pp32 null mice. Mol Cell Biol. 2004 Apr; 24(8):3140-9. PMID: 15060138; PMCID: PMC381670.
      Citations: 18     Fields:    Translation:HumansAnimals
    241. Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr; 10(2):118-28. PMID: 15070486.
      Citations: 67     Fields:    Translation:HumansAnimalsCells
    242. Young JI, Zoghbi HY. X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Am J Hum Genet. 2004 Mar; 74(3):511-20. PMID: 14973779; PMCID: PMC1182264.
      Citations: 60     Fields:    Translation:AnimalsCells
    243. Fritz-Six KL, Cox PR, Fischer RS, Xu B, Gregorio CC, Zoghbi HY, Fowler VM. Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality. J Cell Biol. 2003 Dec 08; 163(5):1033-44. PMID: 14657235; PMCID: PMC2173615.
      Citations: 61     Fields:    Translation:HumansAnimalsCells
    244. Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science. 2003 Oct 31; 302(5646):826-30. PMID: 14593168.
      Citations: 319     Fields:    Translation:HumansAnimalsCells
    245. Zoghbi HY. Molecular neuroscience: BAC-to-BAC images of the brain. Nature. 2003 Oct 30; 425(6961):907-8. PMID: 14586449.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    246. Watase K, Venken KJ, Sun Y, Orr HT, Zoghbi HY. Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Hum Mol Genet. 2003 Nov 01; 12(21):2789-95. PMID: 12952864.
      Citations: 26     Fields:    Translation:AnimalsCells
    247. Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, Meehan RR. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol Cell. 2003 Aug; 12(2):425-35. PMID: 14536082.
      Citations: 55     Fields:    Translation:AnimalsCells
    248. Patterson MC, Zoghbi HY. Mental retardation: X marks the spot. Neurology. 2003 Jul 22; 61(2):156-7. PMID: 12874390.
      Citations: 1     Fields:    Translation:HumansCells
    249. Opal P, Garcia JJ, Propst F, Matilla A, Orr HT, Zoghbi HY. Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis. J Biol Chem. 2003 Sep 05; 278(36):34691-9. PMID: 12807913.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    250. Chen HK, Fernandez-Funez P, Acevedo SF, Lam YC, Kaytor MD, Fernandez MH, Aitken A, Skoulakis EM, Orr HT, Botas J, Zoghbi HY. Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell. 2003 May 16; 113(4):457-68. PMID: 12757707.
      Citations: 143     Fields:    Translation:HumansAnimalsCells
    251. Emamian ES, Kaytor MD, Duvick LA, Zu T, Tousey SK, Zoghbi HY, Clark HB, Orr HT. Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron. 2003 May 08; 38(3):375-87. PMID: 12741986.
      Citations: 120     Fields:    Translation:AnimalsCells
    252. Cox PR, Fowler V, Xu B, Sweatt JD, Paylor R, Zoghbi HY. Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory. Mol Cell Neurosci. 2003 May; 23(1):1-12. PMID: 12799133.
      Citations: 32     Fields:    Translation:AnimalsCells
    253. Watase K, Zoghbi HY. Modelling brain diseases in mice: the challenges of design and analysis. Nat Rev Genet. 2003 Apr; 4(4):296-307. PMID: 12671660.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    254. Yoo SY, Pennesi ME, Weeber EJ, Xu B, Atkinson R, Chen S, Armstrong DL, Wu SM, Sweatt JD, Zoghbi HY. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron. 2003 Feb 06; 37(3):383-401. PMID: 12575948.
      Citations: 94     Fields:    Translation:HumansAnimalsCells
    255. Wallis D, Hamblen M, Zhou Y, Venken KJ, Schumacher A, Grimes HL, Zoghbi HY, Orkin SH, Bellen HJ. The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival. Development. 2003 Jan; 130(1):221-32. PMID: 12441305.
      Citations: 137     Fields:    Translation:AnimalsCells
    256. Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van Den Veyver IB. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet. 2002 Dec 01; 11(25):3237-48. PMID: 12444108.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    257. Shahbazian MD, Zoghbi HY. Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet. 2002 Dec; 71(6):1259-72. PMID: 12442230; PMCID: PMC378559.
      Citations: 60     Fields:    Translation:HumansAnimalsCells
    258. Wang VY, Hassan BA, Bellen HJ, Zoghbi HY. Drosophila atonal fully rescues the phenotype of Math1 null mice: new functions evolve in new cellular contexts. Curr Biol. 2002 Sep 17; 12(18):1611-6. PMID: 12372255.
      Citations: 52     Fields:    Translation:Animals
    259. Jensen P, Zoghbi HY, Goldowitz D. Dissection of the cellular and molecular events that position cerebellar Purkinje cells: a study of the math1 null-mutant mouse. J Neurosci. 2002 Sep 15; 22(18):8110-6. PMID: 12223565; PMCID: PMC6758078.
      Citations: 25     Fields:    Translation:AnimalsCells
    260. Zoghbi HY, Botas J. Mouse and fly models of neurodegeneration. Trends Genet. 2002 Sep; 18(9):463-71. PMID: 12175807.
      Citations: 30     Fields:    Translation:HumansAnimals
    261. Shahbazian MD, Sun Y, Zoghbi HY. Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet. 2002 Aug 01; 111(2):164-8. PMID: 12210344.
      Citations: 33     Fields:    Translation:HumansCells
    262. Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, Armstrong D, Paylor R, Zoghbi H. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002 Jul 18; 35(2):243-54. PMID: 12160743.
      Citations: 338     Fields:    Translation:HumansAnimalsCells
    263. Lin X, Jung J, Kang D, Xu B, Zaret KS, Zoghbi H. Prenylcysteine carboxylmethyltransferase is essential for the earliest stages of liver development in mice. Gastroenterology. 2002 Jul; 123(1):345-51. PMID: 12105862.
      Citations: 8     Fields:    Translation:AnimalsCells
    264. Watase K, Weeber EJ, Xu B, Antalffy B, Yuva-Paylor L, Hashimoto K, Kano M, Atkinson R, Sun Y, Armstrong DL, Sweatt JD, Orr HT, Paylor R, Zoghbi HY. A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 2002 Jun 13; 34(6):905-19. PMID: 12086639.
      Citations: 149     Fields:    Translation:HumansAnimalsCells
    265. Zoghbi HY, Nelson D. Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center. Int J Dev Neurosci. 2002 Jun-Aug; 20(3-5):467-8. PMID: 12175888.
      Citations:    Fields:    Translation:HumansAnimals
    266. Chen P, Johnson JE, Zoghbi HY, Segil N. The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination. Development. 2002 May; 129(10):2495-505. PMID: 11973280.
      Citations: 273     Fields:    Translation:Animals
    267. Opal P, Zoghbi HY. The role of chaperones in polyglutamine disease. Trends Mol Med. 2002 May; 8(5):232-6. PMID: 12067633.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    268. Ueda H, Goto J, Hashida H, Lin X, Oyanagi K, Kawano H, Zoghbi HY, Kanazawa I, Okazawa H. Enhanced SUMOylation in polyglutamine diseases. Biochem Biophys Res Commun. 2002 Apr 26; 293(1):307-13. PMID: 12054600.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    269. Gu Y, McIlwain KL, Weeber EJ, Yamagata T, Xu B, Antalffy BA, Reyes C, Yuva-Paylor L, Armstrong D, Zoghbi H, Sweatt JD, Paylor R, Nelson DL. Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci. 2002 Apr 01; 22(7):2753-63. PMID: 11923441; PMCID: PMC6758318.
      Citations: 38     Fields:    Translation:AnimalsCells
    270. Matsuura T, Ranum LP, Volpini V, Pandolfo M, Sasaki H, Tashiro K, Watase K, Zoghbi HY, Ashizawa T. Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology. 2002 Mar 26; 58(6):983-4. PMID: 11914424.
      Citations: 18     Fields:    Translation:Humans
    271. Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet. 2002 Jan 15; 11(2):115-24. PMID: 11809720.
      Citations: 219     Fields:    Translation:HumansAnimalsCells
    272. Zoghbi HY. Introduction: Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):59-60. PMID: 12112727.
      Citations: 1     Fields:    Translation:HumansCells
    273. Van den Veyver IB, Zoghbi HY. Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):82-6. PMID: 12112732.
      Citations: 16     Fields:    Translation:HumansCells
    274. Skinner PJ, Vierra-Green CA, Emamian E, Zoghbi HY, Orr HT. Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice. Neuromolecular Med. 2002; 1(1):33-42. PMID: 12025814.
      Citations: 6     Fields:    Translation:AnimalsCells
    275. Yang Q, Bermingham NA, Finegold MJ, Zoghbi HY. Requirement of Math1 for secretory cell lineage commitment in the mouse intestine. Science. 2001 Dec 07; 294(5549):2155-8. PMID: 11739954.
      Citations: 418     Fields:    Translation:AnimalsCells
    276. Van den Veyver IB, Zoghbi HY. Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec; 23 Suppl 1:S147-51. PMID: 11738862.
      Citations: 18     Fields:    Translation:Humans
    277. Piedras-Renteria ES, Watase K, Harata N, Zhuchenko O, Zoghbi HY, Lee CC, Tsien RW. Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6. J Neurosci. 2001 Dec 01; 21(23):9185-93. PMID: 11717352; PMCID: PMC6763910.
      Citations: 31     Fields:    Translation:HumansCells
    278. Shahbazian MD, Orr HT, Zoghbi HY. Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiol Dis. 2001 Dec; 8(6):974-81. PMID: 11741393.
      Citations: 14     Fields:    Translation:AnimalsCells
    279. Cox PR, Siddique T, Zoghbi HY. Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4. BMC Genomics. 2001; 2:7. PMID: 11716785; PMCID: PMC59888.
      Citations: 6     Fields:    
    280. Orr HT, Zoghbi HY. SCA1 molecular genetics: a history of a 13 year collaboration against glutamines. Hum Mol Genet. 2001 Oct 01; 10(20):2307-11. PMID: 11673415.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    281. Cormier TA, Prakash SK, Magner DB, Zoghbi HY, Van den Veyver IB. Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mamm Genome. 2001 Oct; 12(10):796-8. PMID: 11668396.
      Citations: 2     Fields:    Translation:AnimalsCells
    282. Skinner PJ, Vierra-Green CA, Clark HB, Zoghbi HY, Orr HT. Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice. Am J Pathol. 2001 Sep; 159(3):905-13. PMID: 11549583; PMCID: PMC1850456.
      Citations: 43     Fields:    Translation:AnimalsCells
    283. Wang VY, Zoghbi HY. Genetic regulation of cerebellar development. Nat Rev Neurosci. 2001 Jul; 2(7):484-91. PMID: 11433373.
      Citations: 199     Fields:    Translation:HumansAnimalsCells
    284. Cummings CJ, Sun Y, Opal P, Antalffy B, Mestril R, Orr HT, Dillmann WH, Zoghbi HY. Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet. 2001 Jul 01; 10(14):1511-8. PMID: 11448943.
      Citations: 150     Fields:    Translation:AnimalsCells
    285. Bermingham NA, Hassan BA, Wang VY, Fernandez M, Banfi S, Bellen HJ, Fritzsch B, Zoghbi HY. Proprioceptor pathway development is dependent on Math1. Neuron. 2001 May; 30(2):411-22. PMID: 11395003.
      Citations: 126     Fields:    Translation:AnimalsCells
    286. Shahbazian MD, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol. 2001 Apr; 14(2):171-6. PMID: 11262731.
      Citations: 35     Fields:    Translation:HumansCells
    287. Inoue T, Lin X, Kohlmeier KA, Orr HT, Zoghbi HY, Ross WN. Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in SCA1 transgenic mice. J Neurophysiol. 2001 Apr; 85(4):1750-60. PMID: 11287496.
      Citations: 38     Fields:    Translation:AnimalsCells
    288. Shi O, Morris SM, Zoghbi H, Porter CW, O'Brien WE. Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene. Mol Cell Biol. 2001 Feb; 21(3):811-3. PMID: 11154268; PMCID: PMC86672.
      Citations: 71     Fields:    Translation:HumansAnimalsCells
    289. Yue S, Serra HG, Zoghbi HY, Orr HT. The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Hum Mol Genet. 2001 Jan 01; 10(1):25-30. PMID: 11136710.
      Citations: 56     Fields:    Translation:HumansCells
    290. Fernandez-Funez P, Nino-Rosales ML, de Gouyon B, She WC, Luchak JM, Martinez P, Turiegano E, Benito J, Capovilla M, Skinner PJ, McCall A, Canal I, Orr HT, Zoghbi HY, Botas J. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature. 2000 Nov 02; 408(6808):101-6. PMID: 11081516.
      Citations: 237     Fields:    Translation:HumansAnimalsCells
    291. Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet. 2000 Dec; 67(6):1428-36. PMID: 11055898; PMCID: PMC1287920.
      Citations: 30     Fields:    Translation:HumansCells
    292. Zoghbi HY, Gage FH, Choi DW. Neurobiology of disease. Curr Opin Neurobiol. 2000 Oct; 10(5):655-60. PMID: 11084329.
      Citations: 9     Fields:    Translation:HumansAnimals
    293. Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000 Oct; 26(2):191-4. PMID: 11017075.
      Citations: 165     Fields:    Translation:HumansAnimalsCells
    294. Zoghbi HY. Spinocerebellar ataxias. Neurobiol Dis. 2000 Oct; 7(5):523-7. PMID: 11042068.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    295. Davidson JD, Riley B, Burright EN, Duvick LA, Zoghbi HY, Orr HT. Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. Hum Mol Genet. 2000 Sep 22; 9(15):2305-12. PMID: 11001934.
      Citations: 39     Fields:    Translation:HumansAnimalsCells
    296. Van den Veyver IB, Zoghbi HY. Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev. 2000 Jun; 10(3):275-9. PMID: 10826991.
      Citations: 38     Fields:    Translation:HumansCells
    297. Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, Philippi A, Timar L, Percy AK, Motil KJ, Lichtarge O, Smith EO, Glaze DG, Zoghbi HY. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000 May; 47(5):670-9. PMID: 10805343.
      Citations: 80     Fields:    Translation:HumansCells
    298. Cummings CJ, Zoghbi HY. Fourteen and counting: unraveling trinucleotide repeat diseases. Hum Mol Genet. 2000 Apr 12; 9(6):909-16. PMID: 10767314.
      Citations: 120     Fields:    Translation:HumansCells
    299. Orr HT, Zoghbi HY. Reversing neurodegeneration: a promise unfolds. Cell. 2000 Mar 31; 101(1):1-4. PMID: 10778849.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    300. Lorenzetti D, Watase K, Xu B, Matzuk MM, Orr HT, Zoghbi HY. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum Mol Genet. 2000 Mar 22; 9(5):779-85. PMID: 10749985.
      Citations: 33     Fields:    Translation:HumansAnimalsCells
    301. Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HY. Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr; 66(4):1461-4. PMID: 10739772; PMCID: PMC1288215.
      Citations: 6     Fields:    Translation:HumansCells
    302. Hassan BA, Bermingham NA, He Y, Sun Y, Jan YN, Zoghbi HY, Bellen HJ. atonal regulates neurite arborization but does not act as a proneural gene in the Drosophila brain. Neuron. 2000 Mar; 25(3):549-61. PMID: 10774724.
      Citations: 69     Fields:    Translation:AnimalsCells
    303. Ben-Arie N, Hassan BA, Bermingham NA, Malicki DM, Armstrong D, Matzuk M, Bellen HJ, Zoghbi HY. Functional conservation of atonal and Math1 in the CNS and PNS. Development. 2000 Mar; 127(5):1039-48. PMID: 10662643.
      Citations: 107     Fields:    Translation:AnimalsCells
    304. Helms AW, Abney AL, Ben-Arie N, Zoghbi HY, Johnson JE. Autoregulation and multiple enhancers control Math1 expression in the developing nervous system. Development. 2000 Mar; 127(6):1185-96. PMID: 10683172.
      Citations: 169     Fields:    Translation:HumansAnimalsCells
    305. Prakash SK, Paylor R, Jenna S, Lamarche-Vane N, Armstrong DL, Xu B, Mancini MA, Zoghbi HY. Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Hum Mol Genet. 2000 Mar 01; 9(4):477-88. PMID: 10699171.
      Citations: 37     Fields:    Translation:HumansAnimalsCells
    306. Lin X, Antalffy B, Kang D, Orr HT, Zoghbi HY. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci. 2000 Feb; 3(2):157-63. PMID: 10649571.
      Citations: 128     Fields:    Translation:HumansAnimalsCells
    307. Amir R, Dahle EJ, Toriolo D, Zoghbi HY. Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq. Am J Med Genet. 2000 Jan 03; 90(1):69-71. PMID: 10602120.
      Citations: 2     Fields:    Translation:HumansCells
    308. Cummings CJ, Zoghbi HY. Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet. 2000; 1:281-328. PMID: 11701632.
      Citations: 87     Fields:    Translation:HumansCells
    309. Heintz N, Zoghbi HY. Insights from mouse models into the molecular basis of neurodegeneration. Annu Rev Physiol. 2000; 62:779-802. PMID: 10845111.
      Citations: 22     Fields:    Translation:HumansAnimals
    310. Amir RE, Zoghbi HY. Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet. 2000; 97(2):147-52. PMID: 11180222.
      Citations: 52     Fields:    Translation:HumansAnimalsCells
    311. Cox PR, Zoghbi HY. Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. Genomics. 2000 Jan 01; 63(1):97-107. PMID: 10662549.
      Citations: 41     Fields:    Translation:HumansAnimalsCells
    312. Zoghbi HY, Orr HT. Glutamine repeats and neurodegeneration. Annu Rev Neurosci. 2000; 23:217-47. PMID: 10845064.
      Citations: 430     Fields:    Translation:HumansAnimalsCells
    313. Cummings CJ, Reinstein E, Sun Y, Antalffy B, Jiang Y, Ciechanover A, Orr HT, Beaudet AL, Zoghbi HY. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron. 1999 Dec; 24(4):879-92. PMID: 10624951.
      Citations: 117     Fields:    Translation:HumansAnimalsCells
    314. Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet. 1999 Dec; 65(6):1520-9. PMID: 10577905; PMCID: PMC1288362.
      Citations: 116     Fields:    Translation:HumansCells
    315. Lin X, Cummings CJ, Zoghbi HY. Expanding our understanding of polyglutamine diseases through mouse models. Neuron. 1999 Nov; 24(3):499-502. PMID: 10595501.
      Citations: 12     Fields:    Translation:AnimalsCells
    316. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct; 23(2):185-8. PMID: 10508514.
      Citations: 1920     Fields:    Translation:HumansCells
    317. Zoghbi HY, Orr HT. Polyglutamine diseases: protein cleavage and aggregation. Curr Opin Neurobiol. 1999 Oct; 9(5):566-70. PMID: 10508741.
      Citations: 38     Fields:    Translation:AnimalsCells
    318. Prakash SK, Van den Veyver IB, Franco B, Volta M, Ballabio A, Zoghbi HY. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 1999 Jul 01; 59(1):77-84. PMID: 10395802.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    319. Cummings CJ, Orr HT, Zoghbi HY. Progress in pathogenesis studies of spinocerebellar ataxia type 1. Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29; 354(1386):1079-81. PMID: 10434309; PMCID: PMC1692607.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    320. Bermingham NA, Hassan BA, Price SD, Vollrath MA, Ben-Arie N, Eatock RA, Bellen HJ, Lysakowski A, Zoghbi HY. Math1: an essential gene for the generation of inner ear hair cells. Science. 1999 Jun 11; 284(5421):1837-41. PMID: 10364557.
      Citations: 476     Fields:    Translation:AnimalsCells
    321. Klement IA, Zoghbi HY, Orr HT. Pathogenesis of polyglutamine-induced disease: A model for SCA1. Mol Genet Metab. 1999 Mar; 66(3):172-8. PMID: 10066385.
      Citations: 1     Fields:    Translation:HumansAnimals
    322. Matsuura T, Achari M, Khajavi M, Bachinski LL, Zoghbi HY, Ashizawa T. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Ann Neurol. 1999 Mar; 45(3):407-11. PMID: 10072060.
      Citations: 25     Fields:    Translation:HumansCells
    323. Klement IA, Skinner PJ, Kaytor MD, Yi H, Hersch SM, Clark HB, Zoghbi HY, Orr HT. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell. 1998 Oct 02; 95(1):41-53. PMID: 9778246.
      Citations: 282     Fields:    Translation:AnimalsCells
    324. Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, Didierjean O, Dürr A, Oyake M, Shimohata T, Sasaki R, Koide R, Igarashi S, Hayashi S, Takiyama Y, Nishizawa M, Tanaka H, Zoghbi H, Brice A, Tsuji S, D?rr A. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet. 1998 Oct; 63(4):1060-6. PMID: 9758625; PMCID: PMC1377499.
      Citations: 53     Fields:    Translation:HumansCells
    325. Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T, Zoghbi HY. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology. 1998 Oct; 51(4):1081-6. PMID: 9781533.
      Citations: 44     Fields:    Translation:HumansCells
    326. Matilla A, Roberson ED, Banfi S, Morales J, Armstrong DL, Burright EN, Orr HT, Sweatt JD, Zoghbi HY, Matzuk MM. Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. J Neurosci. 1998 Jul 15; 18(14):5508-16. PMID: 9651231; PMCID: PMC6793485.
      Citations: 75     Fields:    Translation:HumansAnimals
    327. Van den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY. Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 1998 Jul 15; 51(2):251-61. PMID: 9722948.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    328. Van den Veyver IB, Subramanian S, Zoghbi HY. Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):179-81. PMID: 9674913.
      Citations:    Fields:    Translation:HumansCells
    329. Cummings CJ, Dahle EJ, Zoghbi HY. Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):176-8. PMID: 9674912.
      Citations:    Fields:    Translation:HumansCells
    330. Narayanan V, Olinsky S, Dahle E, Naidu S, Zoghbi HY. Mutation analysis of the M6b gene in patients with Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):165-8. PMID: 9674909.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    331. Cummings CJ, Mancini MA, Antalffy B, DeFranco DB, Orr HT, Zoghbi HY. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet. 1998 Jun; 19(2):148-54. PMID: 9620770.
      Citations: 257     Fields:    Translation:HumansAnimalsCells
    332. Pearson CE, Eichler EE, Lorenzetti D, Kramer SF, Zoghbi HY, Nelson DL, Sinden RR. Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry. 1998 Feb 24; 37(8):2701-8. PMID: 9485421.
      Citations: 61     Fields:    Translation:HumansCells
    333. Schaefer L, Prakash S, Zoghbi HY. Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. Genomics. 1997 Dec 01; 46(2):268-77. PMID: 9417914.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    334. Ben-Arie N, Bellen HJ, Armstrong DL, McCall AE, Gordadze PR, Guo Q, Matzuk MM, Zoghbi HY. Math1 is essential for genesis of cerebellar granule neurons. Nature. 1997 Nov 13; 390(6656):169-72. PMID: 9367153.
      Citations: 279     Fields:    Translation:AnimalsCells
    335. Kaytor MD, Burright EN, Duvick LA, Zoghbi HY, Orr HT. Increased trinucleotide repeat instability with advanced maternal age. Hum Mol Genet. 1997 Nov; 6(12):2135-9. PMID: 9328478.
      Citations: 24     Fields:    Translation:AnimalsCells
    336. Zoghbi HY. CAG repeats in SCA6. Anticipating new clues. Neurology. 1997 Nov; 49(5):1196-9. PMID: 9371891.
      Citations: 2     Fields:    Translation:HumansCells
    337. Matilla A, Koshy BT, Cummings CJ, Isobe T, Orr HT, Zoghbi HY. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature. 1997 Oct 30; 389(6654):974-8. PMID: 9353121.
      Citations: 65     Fields:    Translation:HumansAnimalsCells
    338. Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, Zoghbi HY, Orr HT. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature. 1997 Oct 30; 389(6654):971-4. PMID: 9353120.
      Citations: 146     Fields:    Translation:HumansAnimalsCells
    339. Lorenzetti D, Bohlega S, Zoghbi HY. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology. 1997 Oct; 49(4):1009-13. PMID: 9339681.
      Citations: 26     Fields:    Translation:HumansCells
    340. Clark HB, Burright EN, Yunis WS, Larson S, Wilcox C, Hartman B, Matilla A, Zoghbi HY, Orr HT. Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J Neurosci. 1997 Oct 01; 17(19):7385-95. PMID: 9295384; PMCID: PMC6573461.
      Citations: 132     Fields:    Translation:AnimalsCells
    341. Schanen NC, Dahle EJ, Capozzoli F, Holm VA, Zoghbi HY, Francke U. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet. 1997 Sep; 61(3):634-41. PMID: 9326329; PMCID: PMC1715972.
      Citations: 22     Fields:    Translation:HumansCells
    342. Heintz N, Zoghbi H. alpha-Synuclein--a link between Parkinson and Alzheimer diseases? Nat Genet. 1997 Aug; 16(4):325-7. PMID: 9241262.
      Citations: 7     Fields:    Translation:HumansAnimals
    343. Koshy BT, Zoghbi HY. The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis. Brain Pathol. 1997 Jul; 7(3):927-42. PMID: 9217976; PMCID: PMC8098410.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    344. Zoghbi HY. Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders. Pediatr Res. 1997 May; 41(5):722-6. PMID: 9128297.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    345. Burright EN, Davidson JD, Duvick LA, Koshy B, Zoghbi HY, Orr HT. Identification of a self-association region within the SCA1 gene product, ataxin-1. Hum Mol Genet. 1997 Apr; 6(4):513-8. PMID: 9097953.
      Citations: 20     Fields:    Translation:HumansAnimals
    346. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan; 15(1):62-9. PMID: 8988170.
      Citations: 387     Fields:    Translation:HumansAnimalsCells
    347. Zoghbi HY. The expanding world of ataxins. Nat Genet. 1996 Nov; 14(3):237-8. PMID: 8896544.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    348. Koshy B, Matilla T, Burright EN, Merry DE, Fischbeck KH, Orr HT, Zoghbi HY. Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Hum Mol Genet. 1996 Sep; 5(9):1311-8. PMID: 8872471.
      Citations: 28     Fields:    Translation:AnimalsCells
    349. Ben-Arie N, McCall AE, Berkman S, Eichele G, Bellen HJ, Zoghbi HY. Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis. Hum Mol Genet. 1996 Sep; 5(9):1207-16. PMID: 8872459.
      Citations: 58     Fields:    Translation:HumansAnimalsCells
    350. Schaefer L, Ballabio A, Zoghbi HY. Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics. 1996 Jun 01; 34(2):166-72. PMID: 8661044.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    351. Orr HT, Zoghbi HY. Toward understanding polyglutamine-induced neurological disease in spinocerebellar ataxia type 1. Cold Spring Harb Symp Quant Biol. 1996; 61:649-57. PMID: 9246491.
      Citations:    Fields:    Translation:HumansAnimals
    352. Banfi S, Zoghbi HY. Detection of chimerism in YAC clones. Methods Mol Biol. 1996; 54:115-21. PMID: 8597782.
      Citations:    Fields:    Translation:HumansCells
    353. Banfi S, Servadio A, Chung M, Capozzoli F, Duvick LA, Elde R, Zoghbi HY, Orr HT. Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Hum Mol Genet. 1996 Jan; 5(1):33-40. PMID: 8789437.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    354. O'Donnell DM, Zoghbi HY. Trinucleotide repeat disorders in pediatrics. Curr Opin Pediatr. 1995 Dec; 7(6):715-25. PMID: 8776025.
      Citations: 1     Translation:HumansCells
    355. Servadio A, McCall A, Zoghbi H, Eicher EM. Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes. Genomics. 1995 Oct 10; 29(3):812-3. PMID: 8575786.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    356. Ferrero GB, Franco B, Roth EJ, Firulli BA, Borsani G, Delmas-Mata J, Weissenbach J, Halley G, Schlessinger D, Chinault AC, Zoghbi HY, Nelson DL, Ballabio A. An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet. 1995 Oct; 4(10):1821-7. PMID: 8595402.
      Citations: 11     Fields:    Translation:HumansCells
    357. Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, Yunis WS, Duvick LA, Zoghbi HY, Orr HT. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell. 1995 Sep 22; 82(6):937-48. PMID: 7553854.
      Citations: 192     Fields:    Translation:AnimalsCells
    358. Zoghbi HY. Analysis of the CAG repeat and gene product in spinocerebellar ataxia type 1. Proc Assoc Am Physicians. 1995 Jul; 107(2):231-6. PMID: 8624857.
      Citations:    Fields:    Translation:HumansCells
    359. Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol. 1995 Jul; 38(1):68-72. PMID: 7611728.
      Citations: 24     Fields:    Translation:HumansCells
    360. Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi HY. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1995 Jul; 10(3):344-50. PMID: 7670474.
      Citations: 61     Fields:    Translation:HumansCells
    361. Gouw LG, Kaplan CD, Haines JH, Digre KB, Rutledge SL, Matilla A, Leppert M, Zoghbi HY, Ptácek LJ, Pt?cek LJ. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 1995 May; 10(1):89-93. PMID: 7647799.
      Citations: 26     Fields:    Translation:HumansCells
    362. Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT, Zoghbi HY. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet. 1995 May; 10(1):94-8. PMID: 7647801.
      Citations: 80     Fields:    Translation:HumansAnimalsCells
    363. Zoghbi HY, Orr HT. Spinocerebellar ataxia type 1. Semin Cell Biol. 1995 Feb; 6(1):29-35. PMID: 7620119.
      Citations: 39     Fields:    Translation:HumansCells
    364. Zoghbi HY. Spinocerebellar ataxia type 1. Clin Neurosci. 1995; 3(1):5-11. PMID: 7614095.
      Citations: 10     Fields:    Translation:HumansCells
    365. Bond JS, Rojas K, Overhauser J, Zoghbi HY, Jiang W. The structural genes, MEP1A and MEP1B, for the alpha and beta subunits of the metalloendopeptidase meprin map to human chromosomes 6p and 18q, respectively. Genomics. 1995 Jan 01; 25(1):300-3. PMID: 7774936.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    366. Kish SJ, el-Awar M, Stuss D, Nobrega J, Currier R, Aita JF, Schut L, Zoghbi HY, Freedman M. Neuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia: relationship to ataxia severity. Neurology. 1994 Sep; 44(9):1738-46. PMID: 7936307.
      Citations: 5     Fields:    Translation:Humans
    367. Banfi S, Zoghbi HY. Molecular genetics of hereditary ataxias. Baillieres Clin Neurol. 1994 Aug; 3(2):281-95. PMID: 7952848.
      Citations: 3     Fields:    Translation:HumansCells
    368. Banfi S, Servadio A, Chung MY, Kwiatkowski TJ, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994 Aug; 7(4):513-20. PMID: 7951322.
      Citations: 109     Fields:    Translation:HumansCells
    369. Wapenaar MC, Schiaffino MV, Bassi MT, Schaefer L, Chinault AC, Zoghbi HY, Ballabio A. A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. Hum Mol Genet. 1994 Jul; 3(7):1155-61. PMID: 7981686.
      Citations: 7     Fields:    Translation:HumansCells
    370. van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L, Rugarli EI, Grillo A, Franco B, Zoghbi HY, Ballabio A. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet. 1994 Apr; 3(4):547-52. PMID: 8069296.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    371. Percy AK, Glaze DG, Schultz RJ, Zoghbi HY, Williamson D, Frost JD, Jankovic JJ, del Junco D, Skender M, Waring S, et al. Rett syndrome: controlled study of an oral opiate antagonist, naltrexone. Ann Neurol. 1994 Apr; 35(4):464-70. PMID: 8154874.
      Citations: 17     Fields:    Translation:HumansCTClinical Trials
    372. Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, Hultén M, Gould C, Baldini A, Zoghbi HY, Hult?n M, et al. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet. 1994 Jan 15; 49(2):229-34. PMID: 8116674.
      Citations: 15     Fields:    Translation:HumansCells
    373. Durkin AS, Nierman WC, Zoghbi H, Jones C, Kozak CA, Maglott DR. Chromosome assignment of human brain expressed sequence tags (ESTs) by analyzing fluorescently labeled PCR products from hybrid cell panels. Cytogenet Cell Genet. 1994; 65(1-2):86-91. PMID: 8404072.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    374. Banfi S, Chung MY, Kwiatkowski TJ, Ranum LP, McCall AE, Chinault AC, Orr HT, Zoghbi HY. Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb. Genomics. 1993 Dec; 18(3):627-35. PMID: 8307572.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    375. Ellison KA, Roth EJ, McCabe ER, Chinault AC, Zoghbi HY. Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome. Am J Med Genet. 1993 Nov 15; 47(7):1124-34. PMID: 8291533.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    376. Chong SS, Kristjansson K, Zoghbi HY, Hughes MR. Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23. Genomics. 1993 Nov; 18(2):355-9. PMID: 8288239.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    377. Durkin AS, Maglott DR, Vamvakopoulos NC, Zoghbi HY, Nierman WC. Assignment of an intron-containing human heat-shock protein gene (hsp90 beta, HSPCB) to chromosome 6 near TCTE1 (6p21) and two intronless pseudogenes to chromosomes 4 and 15 by polymerase chain reaction amplification from a panel of hybrid cell lines. Genomics. 1993 Nov; 18(2):452-4. PMID: 8288256.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    378. Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet. 1993 Nov; 5(3):254-8. PMID: 8275090.
      Citations: 134     Fields:    Translation:HumansCells
    379. Friedmann M, Holth LT, Zoghbi HY, Reeves R. Organization, inducible-expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene. Nucleic Acids Res. 1993 Sep 11; 21(18):4259-67. PMID: 8414980; PMCID: PMC310059.
      Citations: 65     Fields:    Translation:HumansAnimalsCells
    380. Wapenaar MC, Bassi MT, Schaefer L, Grillo A, Ferrero GB, Chinault AC, Ballabio A, Zoghbi HY. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum Mol Genet. 1993 Jul; 2(7):947-52. PMID: 8364577.
      Citations: 9     Fields:    Translation:HumansCells
    381. Schaefer L, Ferrero GB, Grillo A, Bassi MT, Roth EJ, Wapenaar MC, van Ommen GJ, Mohandas TK, Rocchi M, Zoghbi HY, Ballabio A. A high resolution deletion map of human chromosome Xp22. Nat Genet. 1993 Jul; 4(3):272-9. PMID: 8358436.
      Citations: 13     Fields:    Translation:HumansCells
    382. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993 Jul; 4(3):221-6. PMID: 8358429.
      Citations: 434     Fields:    Translation:HumansCells
    383. Zoghbi HY, Frontali M, Orr HT, Sandkuijl L, Cann H, Sasaki H, Chamberlain S, Terrenato L, Rich SS. Linkage studies in dominantly inherited ataxias. Adv Neurol. 1993; 61:133-7. PMID: 8421963.
      Citations:    Fields:    Translation:Humans
    384. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992 Dec; 51(6):1229-39. PMID: 1281384; PMCID: PMC1682906.
      Citations: 507     Fields:    Translation:HumansAnimalsCells
    385. Eng CM, Durtschi BA, Zoghbi HY, Beaudet AL. Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum. Genomics. 1992 Nov; 14(3):813-5. PMID: 1294119.
      Citations:    Fields:    Translation:HumansAnimalsCells
    386. Gruen JR, Goei VL, Summers KM, Capossela A, Powell L, Halliday J, Zoghbi H, Shukla H, Weissman SM. Physical and genetic mapping of the telomeric major histocompatibility complex region in man and relevance to the primary hemochromatosis gene (HFE). Genomics. 1992 Oct; 14(2):232-40. PMID: 1427838.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    387. Huang TH, Cottingham RW, Ledbetter DH, Zoghbi HY. Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction. Genomics. 1992 Jun; 13(2):375-80. PMID: 1351869.
      Citations: 15     Fields:    Translation:HumansCells
    388. Banfi S, Ledbetter SA, Chinault AC, Zoghbi HY. An easy and rapid method for the detection of chimeric yeast artificial chromosome clones. Nucleic Acids Res. 1992 Apr 11; 20(7):1814. PMID: 1579482; PMCID: PMC312286.
      Citations: 1     Fields:    Translation:AnimalsCells
    389. Cutting GR, Curristin S, Zoghbi H, O'Hara B, Seldin MF, Uhl GR. Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. Genomics. 1992 Apr; 12(4):801-6. PMID: 1315307.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    390. Meese EU, Witkowski CM, Zoghbi HY, Stanbridge EJ, Meltzer PS, Trent JM. Development and utilization of a somatic cell hybrid mapping panel to assign NotI linking probes to the long arm of human chromosome 6. Genomics. 1992 Mar; 12(3):542-8. PMID: 1559705.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    391. Ellison KA, Fill CP, Terwilliger J, DeGennaro LJ, Martin-Gallardo A, Anvret M, Percy AK, Ott J, Zoghbi H. Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet. 1992 Feb; 50(2):278-87. PMID: 1734712; PMCID: PMC1682446.
      Citations: 17     Fields:    Translation:HumansCells
    392. Huang TH, Hejtmancik JF, Edwards A, Pettigrew AL, Herrera CA, Hammond HA, Caskey CT, Zoghbi HY, Ledbetter DH. Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). Am J Hum Genet. 1991 Dec; 49(6):1312-9. PMID: 1746558; PMCID: PMC1686460.
      Citations: 11     Fields:    Translation:HumansCells
    393. Summers KM, Tam KS, Bartley PB, Drysdale J, Zoghbi HY, Halliday JW, Powell LW. Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis. Hum Genet. 1991 Dec; 88(2):175-8. PMID: 1757092.
      Citations: 1     Fields:    Translation:HumansCells
    394. Le Borgne-Demarquoy F, Kwiatowski TJ, Zoghbi HY. Two dinucleotide repeat polymorphisms at the D6S202 locus. Nucleic Acids Res. 1991 Nov 11; 19(21):6060. PMID: 1945896; PMCID: PMC329082.
      Citations: 4     Fields:    Translation:HumansCells
    395. Keats BJ, Pollack MS, McCall A, Wilensky MA, Ward LJ, Lu M, Zoghbi HY. Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded. Am J Hum Genet. 1991 Nov; 49(5):972-7. PMID: 1928103; PMCID: PMC1683235.
      Citations: 10     Fields:    Translation:HumansCells
    396. Ellison KA, Fill CP, Zoghbi HY. MspI and MboI polymorphisms at the DXS704 locus. Nucleic Acids Res. 1991 Sep 25; 19(18):5101. PMID: 1717944; PMCID: PMC328854.
      Citations: 1     Fields:    Translation:HumansCells
    397. Lupski JR, Garcia CA, Zoghbi HY, Hoffman EP, Fenwick RG. Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet. 1991 Sep 01; 40(3):354-64. PMID: 1683155.
      Citations: 23     Fields:    Translation:HumansCells
    398. Kwiatkowski TJ, Beaudet AL, Trask BJ, Zoghbi HY. Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels. Genomics. 1991 Aug; 10(4):921-6. PMID: 1916824.
      Citations: 11     Fields:    Translation:HumansCells
    399. Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ, McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM, et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet. 1991 Jul; 49(1):23-30. PMID: 2063871; PMCID: PMC1683227.
      Citations: 27     Fields:    Translation:HumansCells
    400. Zoghbi HY, McCall AE, LeBorgne-Demarquoy F. Sixty-five radiation hybrids for the short arm of human chromosome 6: their value as a mapping panel and as a source for rapid isolation of new probes using repeat element-mediated PCR. Genomics. 1991 Apr; 9(4):713-20. PMID: 1674731.
      Citations: 13     Fields:    Translation:HumansCells
    401. Ranum LP, Chung MY, Duvick LA, Zoghbi HY, Orr HT. Dinucleotide repeat polymorphism at the D6S109 locus. Nucleic Acids Res. 1991 Mar 11; 19(5):1171. PMID: 2020562; PMCID: PMC333832.
      Citations: 10     Fields:    Translation:HumansCells
    402. Blanché H, Zoghbi HY, Jabs EW, de Gouyon B, Zunec R, Dausset J, Cann HM, Blanch? H. A centromere-based genetic map of the short arm of human chromosome 6. Genomics. 1991 Mar; 9(3):420-8. PMID: 2032717.
      Citations: 5     Fields:    Translation:HumansCells
    403. Weber JL, Kwitek AE, May PE, Zoghbi HY. Dinucleotide repeat polymorphism at the D6S105 locus. Nucleic Acids Res. 1991 Feb 25; 19(4):968. PMID: 2017389; PMCID: PMC333759.
      Citations: 22     Fields:    Translation:HumansCells
    404. Eng CM, Kozak CA, Beaudet AL, Zoghbi HY. Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics. 1991 Feb; 9(2):278-82. PMID: 2004777.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    405. Kwiatkowski TJ, Zoghbi HY, Ledbetter SA, Ellison KA, Chinault AC. Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR. Nucleic Acids Res. 1990 Dec 11; 18(23):7191-2. PMID: 2263507; PMCID: PMC332835.
      Citations: 26     Fields:    Translation:HumansCells
    406. Zoghbi HY, McCall AE. TaqI polymorphism at the D6S91 locus. Nucleic Acids Res. 1990 Oct 11; 18(19):5923. PMID: 1977146; PMCID: PMC332375.
      Citations:    Fields:    Translation:HumansCells
    407. Zoghbi HY, McCall AE. BclI and MspI polymorphisms at the D6S90 locus. Nucleic Acids Res. 1990 Oct 11; 18(19):5922. PMID: 1699208; PMCID: PMC332372.
      Citations:    Fields:    Translation:HumansCells
    408. Zoghbi HY, Ballantyne CM, O'Brien WE, McCall AE, Kwiatkowski TJ, Ledbetter SA, Beaudet AL. Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6. Genomics. 1990 Feb; 6(2):352-7. PMID: 1968423.
      Citations: 5     Fields:    Translation:HumansCells
    409. Zoghbi HY, Percy AK, Schultz RJ, Fill C. Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev. 1990; 12(1):131-5. PMID: 2344009.
      Citations: 30     Fields:    Translation:HumansCells
    410. Zoghbi HY, Ledbetter DH, Schultz R, Percy AK, Glaze DG. A de novo X;3 translocation in Rett syndrome. Am J Med Genet. 1990 Jan; 35(1):148-51. PMID: 2301468.
      Citations: 12     Fields:    Translation:HumansCells
    411. Bibbins KB, Tsai JY, Schimenti J, Sarvetnick N, Zoghbi HY, Goodfellow P, Silver LM. Human homologs of two testes-expressed loci on mouse chromosome 17 map to opposite arms of chromosome 6. Genomics. 1989 Jul; 5(1):139-43. PMID: 2767684.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    412. Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O'Brien WE, Beaudet AL. Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. Am J Hum Genet. 1989 Feb; 44(2):255-63. PMID: 2563195; PMCID: PMC1715397.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    413. Zoghbi HY, Milstien S, Butler IJ, Smith EO, Kaufman S, Glaze DG, Percy AK. Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Ann Neurol. 1989 Jan; 25(1):56-60. PMID: 2913929.
      Citations: 25     Fields:    Translation:Humans
    414. Zoghbi HY, O'Brien WE, Ledley FD. Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6. Genomics. 1988 Nov; 3(4):396-8. PMID: 2907507.
      Citations: 7     Fields:    Translation:HumansCells
    415. Ledley FD, Lumetta MR, Zoghbi HY, VanTuinen P, Ledbetter SA, Ledbetter DH. Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Am J Hum Genet. 1988 Jun; 42(6):839-46. PMID: 2897160; PMCID: PMC1715214.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    416. Zoghbi HY, Daiger SP, McCall A, O'Brien WE, Beaudet AL. Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA. Am J Hum Genet. 1988 Jun; 42(6):877-83. PMID: 2897163; PMCID: PMC1715200.
      Citations: 12     Fields:    Translation:HumansCells
    417. Zoghbi HY, Pollack MS, Lyons LA, Ferrell RE, Daiger SP, Beaudet AL. Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann Neurol. 1988 Jun; 23(6):580-4. PMID: 3165612.
      Citations: 40     Fields:    Translation:Humans
    418. Ballantyne CM, Zoghbi HY, Grzeschik KH, O'Brien WE, Beaudet AL. A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q. Nucleic Acids Res. 1988 Feb 25; 16(4):1650. PMID: 2894640; PMCID: PMC336370.
      Citations:    Fields:    Translation:HumansCells
    419. Zoghbi H. Genetic aspects of Rett syndrome. J Child Neurol. 1988; 3 Suppl:S76-8. PMID: 3058791.
      Citations: 17     Fields:    Translation:HumansCells
    420. Percy AK, Zoghbi HY, Lewis KR, Jankovic J. Rett syndrome: qualitative and quantitative differentiation from autism. J Child Neurol. 1988; 3 Suppl:S65-7. PMID: 3198904.
      Citations: 10     Fields:    Translation:Humans
    421. Jellinger K, Armstrong D, Zoghbi HY, Percy AK, Jellinger K. Neuropathology of Rett syndrome. Acta Neuropathol. 1988; 76(2):142-58. PMID: 2900587.
      Citations: 57     Fields:    Translation:Humans
    422. Glaze DG, Frost JD, Zoghbi HY, Percy AK. Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging. Arch Neurol. 1987 Oct; 44(10):1053-6. PMID: 3632378.
      Citations: 12     Fields:    Translation:Humans
    423. Glaze DG, Frost JD, Zoghbi HY, Percy AK. Rett's syndrome: characterization of respiratory patterns and sleep. Ann Neurol. 1987 Apr; 21(4):377-82. PMID: 3579223.
      Citations: 29     Fields:    Translation:Humans
    424. Percy AK, Zoghbi HY, Glaze DG. Rett syndrome: discrimination of typical and variant forms. Brain Dev. 1987; 9(5):458-61. PMID: 3434720.
      Citations: 3     Fields:    Translation:Humans
    425. Zoghbi HY, Spence JE, Beaudet AL, O'Brien WE, Goodman CJ, Gibson KM. Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Ann Neurol. 1986 Sep; 20(3):367-9. PMID: 3767322.
      Citations: 9     Fields:    Translation:HumansCells
    426. Zoghbi HY, Percy AK, Glaze DG, Butler IJ, Riccardi VM. Reduction of biogenic amine levels in the Rett syndrome. N Engl J Med. 1985 Oct 10; 313(15):921-4. PMID: 2412119.
      Citations: 37     Fields:    Translation:Humans
    427. Percy AK, Zoghbi H, Riccardi VM. Rett syndrome: initial experience with an emerging clinical entity. Brain Dev. 1985; 7(3):300-4. PMID: 2415015.
      Citations: 6     Fields:    Translation:Humans
    428. Martin JL, Sinusas R, Jacobs RM, Copley AL. Transitorized falling ball viscometer for rapid testing of biological and technological systems. Biorheology. 1974 Nov; 11(6):449-52. PMID: 4462648.
      Citations: 1     Fields:    
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