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HUDA YAHYA ZOGHBI

TitleDistinguished Service Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
DivisionPediatrics-Neurology
Address1250 Moursund Ste N1350
N1350.12
Houston TX 77030
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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


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    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

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    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.


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    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.
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    1. Zoghbi HY. Solving the puzzle of neurological diseases: an interview with Huda Zoghbi. Dis Model Mech. 2017 May 01; 10(5):503-507. PMID: 28468936.
      View in: PubMed
    2. 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 04. PMID: 28392070.
      View in: PubMed
    3. 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, Van Maldergem L, 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. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Mar 13. PMID: 28288114.
      View in: PubMed
    4. Jung SY, Choi JM, Rousseaux MW, Malovannaya A, Kim JJ, Kutzera J, Wang Y, Huang Y, Zhu W, Maity S, Zoghbi HY, Qin J. An anatomically resolved mouse brain proteome reveals Parkinson disease-relevant pathways. Mol Cell Proteomics. 2017 Feb 02. PMID: 28153913.
      View in: PubMed
    5. 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.
      View in: PubMed
    6. Katsnelson A, De Strooper B, Zoghbi HY. Neurodegeneration: From cellular concepts to clinical applications. Sci Transl Med. 2016 Nov 09; 8(364):364ps18. PMID: 27831899.
      View in: PubMed
    7. Sztainberg Y, Zoghbi HY. Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci. 2016 Oct 26; 19(11):1408-1417. PMID: 27786181.
      View in: PubMed
    8. 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 Oct 25; 5. PMID: 27779468.
      View in: PubMed
    9. 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.
      View in: PubMed
    10. Zoghbi HY. Rett Syndrome and the Ongoing Legacy of Close Clinical Observation. Cell. 2016 Oct 6; 167(2):293-297. PMID: 27716498.
      View in: PubMed
    11. 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.
      View in: PubMed
    12. 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.
      View in: PubMed
    13. Meng X, Wang W, Lu H, He LJ, Chen W, Chao E, 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 Jun 21; 5. PMID: 27328325.
      View in: PubMed
    14. 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; 5. PMID: 27328321.
      View in: PubMed
    15. Zoghbi HY, Beaudet AL. Epigenetics and Human Disease. Cold Spring Harb Perspect Biol. 2016 Feb; 8(2):a019497. PMID: 26834142.
      View in: PubMed
    16. Quan XJ, Yuan L, Tiberi 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, Vanderhaeghen P, Hassan BA. Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis. Cell. 2016 Jan 28; 164(3):460-75. PMID: 26824657.
      View in: PubMed
    17. 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; 4. PMID: 26673892; PMCID: PMC4821792.
    18. 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 3; 528(7580):123-6. PMID: 26605526.
      View in: PubMed
    19. 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.
      View in: PubMed
    20. 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.
      View in: PubMed
    21. Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, Neilson JR, Schaaf CP, Zoghbi HY. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 2015; 4. PMID: 26312503.
      View in: PubMed
    22. Baker SA, Lombardi LM, Zoghbi HY. Karyopherin ? 3 and karyopherin ? 4 proteins mediate the nuclear import of methyl-CpG binding protein 2. J Biol Chem. 2015 Sep 11; 290(37):22485-93. PMID: 26245896.
      View in: PubMed
    23. Lombardi LM, Baker SA, Zoghbi HY. MECP2 disorders: from the clinic to mice and back. J Clin Invest. 2015 Aug 3; 125(8):2914-23. PMID: 26237041.
      View in: PubMed
    24. 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.
      View in: PubMed
    25. Lasagna-Reeves CA, Rousseaux MW, Guerrero-Muñoz MJ, Park J, Jafar-Nejad P, Richman R, Lu N, Sengupta U, Litvinchuk A, Orr HT, Kayed R, Zoghbi HY. A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1. Elife. 2015; 4. PMID: 25988806.
      View in: PubMed
    26. 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.
    27. 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 8; 35(14):5870-83. PMID: 25855195; PMCID: PMC4388939.
    28. 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, Orr HT, Sillitoe RV, Zoghbi HY. 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.
    29. 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.
      View in: PubMed
    30. 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; 5:8272. PMID: 25653040; PMCID: PMC4317698.
    31. 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 1; 24(7):1813-23. PMID: 25432536; PMCID: PMC4355018.
    32. Zoghbi HY. From anatomy to electrophysiology: clinical Lasker goes deep. Cell. 2014 Sep 11; 158(6):1225-9. PMID: 25215480.
      View in: PubMed
    33. 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; 3. PMID: 24970834; PMCID: PMC4102243.
    34. 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; 3:e02265. PMID: 24842997; PMCID: PMC4060005.
    35. 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. 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.
    36. 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.
    37. Bosch DG, Boonstra FN, 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. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 6; 94(2):303-9. PMID: 24462372; PMCID: PMC3928641.
    38. 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.
    39. 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 7; 503(7474):72-7. PMID: 24153177; PMCID: PMC3923348.
    40. 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.
    41. Zoghbi H, Nybo K. Scientists. Curiosity and observation. Biotechniques. 2013 Aug; 55(2):53. PMID: 24079024.
      View in: PubMed
    42. 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.
    43. 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 JS, 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):325-31. PMID: 23719381; PMCID: PMC4020154.
    44. 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.
    45. 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.
    46. 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.
    47. 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. 2013 Mar 1; 288(9):6590. PMID: 23457395.
      View in: PubMed
    48. 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.
    49. 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 1; 27(5):485-90. PMID: 23431031; PMCID: PMC3605462.
    50. Zoghbi HY. The basics of translation. Science. 2013 Jan 18; 339(6117):250. PMID: 23329019.
      View in: PubMed
    51. 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 5; 4(163):163ra158. PMID: 23220634; PMCID: PMC3628825.
    52. 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.
    53. Samaco RC, McGraw CM, Ward CS, Sun Y, Neul JL, Zoghbi HY. Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. Hum Mol Genet. 2013 Jan 1; 22(1):96-109. PMID: 23026749; PMCID: PMC3522402.
    54. 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.
      View in: PubMed
    55. 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 6; 75(5):799-809. PMID: 22958821; PMCID: PMC3464459.
    56. Zoghbi HY, Bear MF. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol. 2012 Mar; 4(3). PMID: 22258914; PMCID: PMC3282414.
    57. Chao HT, Zoghbi HY. MeCP2: only 100% will do. Nat Neurosci. 2012 Feb; 15(2):176-7. PMID: 22281712.
      View in: PubMed
    58. 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 Feb; 44(2):206-11. PMID: 22231481; PMCID: PMC3267865.
    59. 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 4; 334(6056):690-3. PMID: 22053053; PMCID: PMC3232424.
    60. 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.
    61. 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.
    62. 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 Nov; 43(11):1074-81. PMID: 21964572; PMCID: PMC3235474.
    63. 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.
    64. 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 7; 286(40):34606-16. PMID: 21835928; PMCID: PMC3186404.
    65. 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.
    66. Schaaf CP, Zoghbi HY. Solving the autism puzzle a few pieces at a time. Neuron. 2011 Jun 9; 70(5):806-8. PMID: 21658575.
      View in: PubMed
    67. 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 8; 3(86):86ra49. PMID: 21653829; PMCID: PMC3169432.
    68. McGraw CM, Samaco RC, Zoghbi HY. Adult neural function requires MeCP2. Science. 2011 Jul 8; 333(6039):186. PMID: 21636743; PMCID: PMC3150190.
    69. 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 1; 20(17):3366-75. PMID: 21624971; PMCID: PMC3153303.
    70. 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 1; 20(11):2204-12. PMID: 21427130; PMCID: PMC3090197.
    71. 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.
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    147. 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 1; 279(40):42290-301. PMID: 15280365.
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    148. 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.
    149. 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.
    150. Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr; 10(2):118-28. PMID: 15070486.
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    151. 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.
    152. 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 8; 163(5):1033-44. PMID: 14657235; PMCID: PMC2173615.
    153. Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science. 2003 Oct 31; 302(5646):826-30. PMID: 14593168.
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    154. Zoghbi HY. Molecular neuroscience: BAC-to-BAC images of the brain. Nature. 2003 Oct 30; 425(6961):907-8. PMID: 14586449.
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    155. 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 1; 12(21):2789-95. PMID: 12952864.
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    156. 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.
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    157. Patterson MC, Zoghbi HY. Mental retardation: X marks the spot. Neurology. 2003 Jul 22; 61(2):156-7. PMID: 12874390.
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    158. 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 5; 278(36):34691-9. PMID: 12807913.
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    159. 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.
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    160. 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 8; 38(3):375-87. PMID: 12741986.
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    161. 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.
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    162. 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.
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    163. 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 6; 37(3):383-401. PMID: 12575948.
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    164. 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.
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    165. 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 1; 11(25):3237-48. PMID: 12444108.
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    166. 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.
    167. 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.
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    168. 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.
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    169. Zoghbi HY, Botas J. Mouse and fly models of neurodegeneration. Trends Genet. 2002 Sep; 18(9):463-71. PMID: 12175807.
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    170. Shahbazian MD, Sun Y, Zoghbi HY. Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet. 2002 Aug 1; 111(2):164-8. PMID: 12210344.
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    171. 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.
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    172. 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.
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    173. 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.
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    174. 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.
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    175. 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.
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    176. Opal P, Zoghbi HY. The role of chaperones in polyglutamine disease. Trends Mol Med. 2002 May; 8(5):232-6. PMID: 12067633.
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    177. 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.
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    178. 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 1; 22(7):2753-63. PMID: 11923441.
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    179. 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.
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    180. 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.
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    181. Zoghbi HY. Introduction: Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):59-60. PMID: 12112727.
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    182. 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.
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    183. Van den Veyver IB, Zoghbi HY. Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):82-6. PMID: 12112732.
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    184. Yang Q, Bermingham NA, Finegold MJ, Zoghbi HY. Requirement of Math1 for secretory cell lineage commitment in the mouse intestine. Science. 2001 Dec 7; 294(5549):2155-8. PMID: 11739954.
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    185. 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.
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    186. 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 1; 21(23):9185-93. PMID: 11717352.
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    187. 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.
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    188. 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.
    189. Orr HT, Zoghbi HY. SCA1 molecular genetics: a history of a 13 year collaboration against glutamines. Hum Mol Genet. 2001 Oct 1; 10(20):2307-11. PMID: 11673415.
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    190. 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.
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    191. 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.
    192. Wang VY, Zoghbi HY. Genetic regulation of cerebellar development. Nat Rev Neurosci. 2001 Jul; 2(7):484-91. PMID: 11433373.
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    193. 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 1; 10(14):1511-8. PMID: 11448943.
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    194. 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.
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    195. 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.
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    196. 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.
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    197. 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.
    198. 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 1; 10(1):25-30. PMID: 11136710.
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    199. 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 2; 408(6808):101-6. PMID: 11081516.
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    200. 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.
    201. Zoghbi HY. Spinocerebellar ataxias. Neurobiol Dis. 2000 Oct; 7(5):523-7. PMID: 11042068.
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    202. Zoghbi HY, Gage FH, Choi DW. Neurobiology of disease. Curr Opin Neurobiol. 2000 Oct; 10(5):655-60. PMID: 11084329.
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    203. 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.
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    204. 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.
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    205. 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.
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    206. 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.
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    207. Cummings CJ, Zoghbi HY. Fourteen and counting: unraveling trinucleotide repeat diseases. Hum Mol Genet. 2000 Apr 12; 9(6):909-16. PMID: 10767314.
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    208. Orr HT, Zoghbi HY. Reversing neurodegeneration: a promise unfolds. Cell. 2000 Mar 31; 101(1):1-4. PMID: 10778849.
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    209. 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.
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    210. 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.
    211. 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.
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    212. 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.
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    213. 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 1; 9(4):477-88. PMID: 10699171.
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    214. 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.
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    215. 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.
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    216. 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 3; 90(1):69-71. PMID: 10602120.
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    217. Cummings CJ, Zoghbi HY. Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet. 2000; 1:281-328. PMID: 11701632.
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    218. Cox PR, Zoghbi HY. Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. Genomics. 2000 Jan 1; 63(1):97-107. PMID: 10662549.
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    219. Zoghbi HY, Orr HT. Glutamine repeats and neurodegeneration. Annu Rev Neurosci. 2000; 23:217-47. PMID: 10845064.
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    220. Heintz N, Zoghbi HY. Insights from mouse models into the molecular basis of neurodegeneration. Annu Rev Physiol. 2000; 62:779-802. PMID: 10845111.
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    221. 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.
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    222. 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.
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    223. 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.
    224. Lin X, Cummings CJ, Zoghbi HY. Expanding our understanding of polyglutamine diseases through mouse models. Neuron. 1999 Nov; 24(3):499-502. PMID: 10595501.
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    225. 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.
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    226. Zoghbi HY, Orr HT. Polyglutamine diseases: protein cleavage and aggregation. Curr Opin Neurobiol. 1999 Oct; 9(5):566-70. PMID: 10508741.
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    227. 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 1; 59(1):77-84. PMID: 10395802.
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    228. 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.
    229. 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.
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    230. 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.
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    231. 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.
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    232. 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 2; 95(1):41-53. PMID: 9778246.
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    233. 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.
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    234. 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. 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.
    235. 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.
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    236. 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.
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    237. 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.
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    238. 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.
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    239. 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.
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    240. 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.
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    241. 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.
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    242. 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 1; 46(2):268-77. PMID: 9417914.
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    243. 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.
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    244. 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.
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    245. Zoghbi HY. CAG repeats in SCA6. Anticipating new clues. Neurology. 1997 Nov; 49(5):1196-9. PMID: 9371891.
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    246. 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.
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    247. 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.
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    248. 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.
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    249. 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 1; 17(19):7385-95. PMID: 9295384.
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    250. 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.
    251. Heintz N, Zoghbi H. alpha-Synuclein--a link between Parkinson and Alzheimer diseases? Nat Genet. 1997 Aug; 16(4):325-7. PMID: 9241262.
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    252. Koshy BT, Zoghbi HY. The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis. Brain Pathol. 1997 Jul; 7(3):927-42. PMID: 9217976.
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    253. Zoghbi HY. Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders. Pediatr Res. 1997 May; 41(5):722-6. PMID: 9128297.
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    254. 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.
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    255. 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.
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    256. Zoghbi HY. The expanding world of ataxins. Nat Genet. 1996 Nov; 14(3):237-8. PMID: 8896544.
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    257. 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.
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    258. 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.
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    259. 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 1; 34(2):166-72. PMID: 8661044.
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    260. 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.
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    261. Banfi S, Zoghbi HY. Detection of chimerism in YAC clones. Methods Mol Biol. 1996; 54:115-21. PMID: 8597782.
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    262. 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.
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    263. O'Donnell DM, Zoghbi HY. Trinucleotide repeat disorders in pediatrics. Curr Opin Pediatr. 1995 Dec; 7(6):715-25. PMID: 8776025.
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    264. 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.
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    265. 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.
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    266. 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.
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    267. 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.
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    268. 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.
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    269. 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.
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    270. 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.
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    271. Gouw LG, Kaplan CD, Haines JH, Digre KB, Rutledge SL, Matilla A, Leppert M, Zoghbi HY, Ptácek LJ. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 1995 May; 10(1):89-93. PMID: 7647799.
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    272. Zoghbi HY, Orr HT. Spinocerebellar ataxia type 1. Semin Cell Biol. 1995 Feb; 6(1):29-35. PMID: 7620119.
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    273. Zoghbi HY. Spinocerebellar ataxia type 1. Clin Neurosci. 1995; 3(1):5-11. PMID: 7614095.
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    274. 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 1; 25(1):300-3. PMID: 7774936.
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    275. 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.
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    276. Banfi S, Zoghbi HY. Molecular genetics of hereditary ataxias. Baillieres Clin Neurol. 1994 Aug; 3(2):281-95. PMID: 7952848.
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    277. 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.
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    278. 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.
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    279. 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.
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    280. 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.
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    281. Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, Hultén M, Gould C, Baldini A, Zoghbi HY, 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.
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    282. 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.
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    283. 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.
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    284. 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.
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    285. 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.
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    286. 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.
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    287. 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.
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    288. 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.
    289. 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.
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    290. 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.
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    291. 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.
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    292. 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.
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    293. 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.
    294. 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.
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    295. 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.
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    296. 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.
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    297. 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.
    298. 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.
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    299. 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.
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    300. 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.
    301. 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.
    302. 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.
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    303. 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.
    304. 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.
    305. 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.
    306. 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 1; 40(3):354-64. PMID: 1683155.
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    307. 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.
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    308. 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.
    309. 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.
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    310. 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.
    311. Blanché H, Zoghbi HY, Jabs EW, de Gouyon B, Zunec R, Dausset J, Cann HM. A centromere-based genetic map of the short arm of human chromosome 6. Genomics. 1991 Mar; 9(3):420-8. PMID: 2032717.
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    312. 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.
    313. 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.
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    314. 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.
    315. Zoghbi HY, McCall AE. TaqI polymorphism at the D6S91 locus. Nucleic Acids Res. 1990 Oct 11; 18(19):5923. PMID: 1977146; PMCID: PMC332375.
    316. 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.
    317. 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.
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    318. 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.
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    319. 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.
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    320. 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.
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    321. 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.
    322. 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.
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    323. 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.
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    324. 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.
    325. 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.
    326. 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.
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    327. 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.
    328. Zoghbi H. Genetic aspects of Rett syndrome. J Child Neurol. 1988; 3 Suppl:S76-8. PMID: 3058791.
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    329. 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.
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    330. Jellinger K, Armstrong D, Zoghbi HY, Percy AK. Neuropathology of Rett syndrome. Acta Neuropathol. 1988; 76(2):142-58. PMID: 2900587.
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    331. 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.
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    332. 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.
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    333. Percy AK, Zoghbi HY, Glaze DG. Rett syndrome: discrimination of typical and variant forms. Brain Dev. 1987; 9(5):458-61. PMID: 3434720.
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    334. 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.
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    335. Zoghbi HY, Okumura S, Laurent JP, Fishman MA. Acute effect of glycerol on net cerebrospinal fluid production in dogs. J Neurosurg. 1985 Nov; 63(5):759-62. PMID: 4056879.
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    336. 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.
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    337. Percy AK, Zoghbi H, Riccardi VM. Rett syndrome: initial experience with an emerging clinical entity. Brain Dev. 1985; 7(3):300-4. PMID: 2415015.
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    338. 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.
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