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TETSUO ASHIZAWA

TitleAdjunct Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Neurology
Address7200 Cambridge Street, M.S. Bcm609
Houston, TX 77030
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    Collapse Research 
    Collapse research activities and funding
    R13NS111955     (ASHIZAWA, TETSUO)Mar 15, 2019 - Dec 31, 2019
    NIH
    The 1st SCA Global Conference
    Role: Principal Investigator
    R01NS115002     (ASHIZAWA, TETSUO ;JARDIM, LAURA B)Feb 1, 2019 - Dec 31, 2023
    NIH
    Genetic mechanism of conserved ancestral haplotype in SCA10
    Role: Principal Investigator
    U01NS104326     (ASHIZAWA, TETSUO ;DURR, ALEXANDRA ;KLOCKGETHER, THOMAS ;OZ, GULIN ;PAULSON, HENRY L)Jan 1, 2018 - Dec 31, 2023
    NIH
    Clinical Trial Readiness for SCA1 and SCA3
    Role: Principal Investigator
    R01NS083564     (ASHIZAWA, TETSUO)May 1, 2013 - Jan 31, 2019
    NIH
    RNA-Gain-of-Function Pathogenesis in SCA10
    Role: Principal Investigator
    RC1NS068897     (ASHIZAWA, TETSUO)Sep 30, 2009 - Aug 31, 2012
    NIH
    Clinical Research Consortium for Spinocerebellar Ataxias
    Role: Principal Investigator
    R01NS041547     (ASHIZAWA, TETSUO)May 1, 2001 - Mar 31, 2010
    NIH
    Pathogenic Mechanism of Spinocerebellar Ataxia Type 10
    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.
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    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. Lai RY, Rummey C, Amlang CJ, Lin CR, Chen TX, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Ying SH, Onyike CU, Zesiewicz TA, Bushara KO, Geschwind MD, Figueroa KP, Pulst SM, Subramony SH, Burns MR, Opal P, Duquette A, Ashizawa T, Hamedani AG, Davis MY, Srinivasan SR, Moore LR, Shakkottai VG, Rosenthal LS, Kuo SH. Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias. Mov Disord Clin Pract. 2024 Feb 29. PMID: 38419568.
      Citations:    
    2. Chatterjee A, Saha S, Chakraborty A, Silva-Fernandes A, Mandal SM, Neves-Carvalho A, Liu Y, Pandita RK, Hegde ML, Hegde PM, Boldogh I, Ashizawa T, Koeppen AH, Pandita TK, Maciel P, Sarkar PS, Hazra TK. Correction: The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3'-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis. PLoS Genet. 2024 Jan; 20(1):e1011124. PMID: 38236804; PMCID: PMC10795974.
      Citations:    Fields:    
    3. Selvadurai LP, Perlman SL, Ashizawa T, Wilmot GR, Onyike CU, Rosenthal LS, Shakkottai VG, Paulson HL, Subramony SH, Bushara KO, Kuo SH, Dietiker C, Geschwind MD, Nelson AB, Gomez CM, Opal P, Zesiewicz TA, Hawkins T, Yacoubian TA, Nopoulos PC, Sha SJ, Morrison PE, Figueroa KP, Pulst SM, Schmahmann JD. The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias. Cerebellum. 2024 Jan 02. PMID: 38165578.
      Citations:    Fields:    
    4. Taheri Amin A, Faber J, ?nder D, Kimmich O, Synofzik M, Ashizawa T, Klockgether T, Grobe-Einsler M. Comparison of Live and Remote Video Ratings of the Scale for Assessment and Rating of Ataxia. Mov Disord Clin Pract. 2023 Sep; 10(9):1404-1407. PMID: 37772290; PMCID: PMC10525045.
      Citations:    
    5. Chen Z, Liao G, Wan N, He Z, Chen D, Tang Z, Long Z, Zou G, Peng L, Wan L, Wang C, Peng H, Shi Y, Tang Y, Li J, Li Y, Long T, Hou X, He L, Qiu R, Chen D, Wang J, Guo J, Shen L, Huang Y, Ashizawa T, Klockgether T, Tang B, Zhou M, Hu S, Jiang H. Synaptic Loss in Spinocerebellar Ataxia Type 3 Revealed by SV2A Positron Emission Tomography. Mov Disord. 2023 06; 38(6):978-989. PMID: 37023261.
      Citations:    Fields:    
    6. Uebachs M, Wegner P, Schaaf S, Kugai S, Jacobi H, Kuo SH, Ashizawa T, Fluck J, EUROSCA study group, ESMI study group, RISCA study group, CRC-SCA study group, SCA Registry study group, Klockgether T, Faber J. SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias. Cerebellum. 2023 Mar 31. PMID: 37002505; PMCID: PMC10544694.
      Citations:    Fields:    
    7. Thornton CA, Moxley RT, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF. Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. Lancet Neurol. 2023 03; 22(3):218-228. PMID: 36804094.
      Citations: 2     Fields:    Translation:HumansCTClinical Trials
    8. READISCA Consortium Collaborators, Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Paulson HL, ?z G, Klockgether T, Durr A, Ashizawa T. Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. Neurology. 2023 04 25; 100(17):e1836-e1848. PMID: 36797067; PMCID: PMC10136009.
      Citations:    Fields:    Translation:Humans
    9. READISCA Consortium, Chandrasekaran J, Petit E, Park YW, du Montcel ST, Joers JM, Deelchand DK, Pova?an M, Banan G, Valabregue R, Ehses P, Faber J, Coup? P, Onyike CU, Barker PB, Schmahmann JD, Ratai EM, Subramony SH, Mareci TH, Bushara KO, Paulson H, Durr A, Klockgether T, Ashizawa T, Lenglet C, ?z G. Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3. Ann Neurol. 2023 Apr; 93(4):686-701. PMID: 36511514; PMCID: PMC10261544.
      Citations: 5     Fields:    
    10. Kurosaki T, Ashizawa T. The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10. Front Genet. 2022; 13:936869. PMID: 36199580; PMCID: PMC9528567.
      Citations:    
    11. Morato Torres CA, Zafar F, Tsai YC, Vazquez JP, Gallagher MD, McLaughlin I, Hong K, Lai J, Lee J, Chirino-Perez A, Romero-Molina AO, Torres F, Fernandez-Ruiz J, Ashizawa T, Ziegle J, Jim?nez Gil FJ, Sch?le B. ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10. HGG Adv. 2022 Oct 13; 3(4):100137. PMID: 36092952; PMCID: PMC9460507.
      Citations:    
    12. Selvadurai LP, Perlman SL, Wilmot GR, Subramony SH, Gomez CM, Ashizawa T, Paulson HL, Onyike CU, Rosenthal LS, Sair HI, Kuo SH, Ratai EM, Zesiewicz TA, Bushara KO, ?z G, Dietiker C, Geschwind MD, Nelson AB, Opal P, Yacoubian TA, Nopoulos PC, Shakkottai VG, Figueroa KP, Pulst SM, Morrison PE, Schmahmann JD. The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications. Cerebellum. 2023 Oct; 22(5):790-809. PMID: 35962273; PMCID: PMC10363993.
      Citations:    
    13. Zhang N, Ashizawa T. Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions. Cells. 2022 05 06; 11(9). PMID: 35563872; PMCID: PMC9099484.
      Citations:    Fields:    Translation:HumansCells
    14. Klockgether T, Ashizawa T, Brais B, Chuang R, Fogel B, Greenfield J, Hagen S, Jardim LB, Jiang H, Onodera O, Soong BW, Szmulewicz D, Ataxia Global Initiative (AGI), Durr A, Pedroso JL, Graessner H, Synofzik M. Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective. Mov Disord. 2022 06; 37(6):1125-1130. PMID: 35475582.
      Citations:    Fields:    Translation:Humans
    15. Deutsch GK, Hagerman KA, Sampson J, Dent G, Dekdebrun J, Parker DM, Thornton CA, Heatwole CR, Subramony SH, Mankodi AK, Ashizawa T, Statland JM, Arnold WD, Moxley RT, Day JW, Myotonic Dystrophy Clinical Research Network. Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation. Muscle Nerve. 2022 05; 65(5):560-567. PMID: 35179228; PMCID: PMC9102286.
      Citations:    Fields:    Translation:Humans
    16. Munhoz RP, Zonta MB, Teive HAG, Camargo CHF, Meira AT, Lopes Neto FDN, Tensini FS, Braga CB, Ashizawa T. Comparing loss of balance and functional capacity among patients with SCA2, SCA3 and SCA10. Clin Neurol Neurosurg. 2022 03; 214:107150. PMID: 35123369.
      Citations:    Fields:    Translation:HumansCells
    17. Zhou ZD, Jankovic J, Ashizawa T, Tan EK. Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions. Nat Rev Neurol. 2022 03; 18(3):145-157. PMID: 35022573.
      Citations: 1     Fields:    Translation:HumansCells
    18. Munhoz RP, Ashizawa T, Meira AT, Arruda WO, Franklin GL, Coutinho L, Strobel G, Ono SE, de Carvalho Neto A, Camargo CHF, Teive HAG. Reply to: "Cognitive Impairments in Spinocerebellar Ataxia Type 10 and Their Relation to Cortical Thickness". Mov Disord. 2021 12; 36(12):2977. PMID: 34921454.
      Citations:    Fields:    Translation:HumansCells
    19. Perez BA, Shorrock HK, Banez-Coronel M, Zu T, Romano LE, Laboissonniere LA, Reid T, Ikeda Y, Reddy K, Gomez CM, Bird T, Ashizawa T, Schut LJ, Brusco A, Berglund JA, Hasholt LF, Nielsen JE, Subramony SH, Ranum LP. CCG?CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. EMBO Mol Med. 2021 11 08; 13(11):e14095. PMID: 34632710; PMCID: PMC8573593.
      Citations: 1     Fields:    Translation:HumansCells
    20. Peng L, Wang S, Chen Z, Peng Y, Wang C, Long Z, Peng H, Shi Y, Hou X, Lei L, Wan L, Liu M, Zou G, Shen L, Xia K, Qiu R, Tang B, Ashizawa T, Klockgether T, Jiang H. Blood Neurofilament Light Chain in Genetic Ataxia: A Meta-Analysis. Mov Disord. 2022 01; 37(1):171-181. PMID: 34519102.
      Citations: 1     Fields:    Translation:HumansCells
    21. Zhang N, Bewick B, Schultz J, Tiwari A, Krencik R, Zhang A, Adachi K, Xia G, Yun K, Sarkar P, Ashizawa T. DNAzyme Cleavage of CAG Repeat RNA in Polyglutamine Diseases. Neurotherapeutics. 2021 07; 18(3):1710-1728. PMID: 34160773; PMCID: PMC8609077.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    22. Ashizawa T, V?liz-Otani D, Cubas-Montecino D, Milla-Neyra K, Saraiva-Pereira ML, Jardim LB, Cornejo-Olivas M. Response to ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population. Cerebellum. 2021 12; 20(6):946-947. PMID: 33728569.
      Citations:    Fields:    Translation:HumansCells
    23. Zhou Y, Sood R, Wang Q, Carrington B, Park M, Young AC, Birnbaum D, Liu Z, Ashizawa T, Mullikin JC, Koubeissi MZ, Liu P. Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion. Epilepsia Open. 2021 03; 6(1):102-111. PMID: 33681653; PMCID: PMC7918340.
      Citations: 1     Fields:    Translation:HumansCells
    24. Munhoz RP, Ashizawa T, Konno KM, Zonta MB, Guimar?es ATB, Camargo CHF, Raskin S, Teive HAG. Balance and physical functioning in Spinocerebellar ataxias 3 and 10. Acta Neurol Scand. 2021 Apr; 143(4):458-463. PMID: 33251611.
      Citations: 1     Fields:    Translation:HumansCells
    25. Zhang N, Bewick B, Xia G, Ashizawa T, Furling D. A CRISPR-Cas13a Based Strategy That Tracks and Degrades Toxic RNA in Myotonic Dystrophy Type 1. Front Genet. 2020; 11:594576. PMID: 33362853; PMCID: PMC7758406.
      Citations: 3     
    26. Wan L, Chen Z, Wan N, Liu M, Xue J, Chen H, Zhang Y, Peng Y, Tang Z, Gong Y, Yuan H, Wang S, Deng Q, Hou X, Wang C, Peng H, Shi Y, Peng L, Lei L, Duan R, Xia K, Qiu R, Shen L, Tang B, Ashizawa T, Jiang H. Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy. Ann Neurol. 2020 12; 88(6):1132-1143. PMID: 32939785.
      Citations: 12     Fields:    Translation:HumansCells
    27. Lin CC, Ashizawa T, Kuo SH. Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA. Front Neurol. 2020; 11:902. PMID: 32982927; PMCID: PMC7479060.
      Citations: 8     
    28. Zhang L, Ashizawa T, Peng D. Primary coenzyme Q10 deficiency due to COQ8A gene mutations. Mol Genet Genomic Med. 2020 10; 8(10):e1420. PMID: 32743982; PMCID: PMC7549598.
      Citations: 3     Fields:    Translation:Humans
    29. Ashizawa T, Meira AT, Arruda WO, Ono SE, Franklin GL, de Carvalho Neto A, Raskin S, Camargo CHF, Teive HAG. Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients. Parkinsonism Relat Disord. 2020 09; 78:73-78. PMID: 32745980.
      Citations: 4     Fields:    Translation:HumansCells
    30. Cisneros B, McFarland KN, Gomez CM, Ashizawa T, PanAmerican Hereditary Ataxia Network, Rodr?guez-Labrada R, Martins AC, Maga?a JJ, Vazquez-Mojena Y, Medrano-Montero J, Fernandez-Ru?z J, Teive H, Saraiva-Pereira ML, Cerecedo-Zapata CM, Vel?zquez-P?rez L, Jardim LB. Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean. Cerebellum. 2020 Jun; 19(3):446-458. PMID: 32086717.
      Citations: 5     Fields:    Translation:Humans
    31. Ashizawa T, Schultz DB, Nascimento FA, Camargo CHF, Teive HAG. Cancer frequency in patients with spinocerebellar ataxia type 10. Parkinsonism Relat Disord. 2020 07; 76:1-2. PMID: 32497992.
      Citations: 1     Fields:    Translation:HumansCells
    32. Yang CY, Lai RY, Amokrane N, Lin CY, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Rosenthal LS, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Troche MS, Kuo SH. Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6. J Neurol Sci. 2020 Aug 15; 415:116878. PMID: 32454319; PMCID: PMC10150947.
      Citations:    Fields:    Translation:Humans
    33. Hashem V, Tiwari A, Bewick B, Teive HAG, Moscovich M, Bushara K, Bower M, Rasmussen A, Tsai YC, Clark T, McFarland K, Ashizawa T, Sch?le B. Correction:?Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10. PLoS One. 2020; 15(4):e0231746. PMID: 32298361; PMCID: PMC7161945.
      Citations:    Fields:    
    34. Kurkiewicz A, Cooper A, McIlwaine E, Cumming SA, Adam B, Krahe R, Puymirat J, Schoser B, Timchenko L, Ashizawa T, Thornton CA, Rogers S, McClure JD, Monckton DG. Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial. PLoS One. 2020; 15(4):e0231000. PMID: 32287265; PMCID: PMC7156058.
      Citations: 5     Fields:    Translation:HumansCells
    35. Chakraborty A, Tapryal N, Venkova T, Mitra J, Vasquez V, Sarker AH, Duarte-Silva S, Huai W, Ashizawa T, Ghosh G, Maciel P, Sarkar PS, Hegde ML, Chen X, Hazra TK. Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis. Proc Natl Acad Sci U S A. 2020 04 07; 117(14):8154-8165. PMID: 32205441; PMCID: PMC7148577.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    36. Ashizawa T, Arruda WO, Meira AT, Ono SE, de Carvalho Neto A, Ferreira MG, Raskin S, Ferreira Camargo CH, Ghizoni Teive HA. Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. Parkinsonism Relat Disord. 2020 07; 76:76-77. PMID: 32199743.
      Citations:    Fields:    Translation:HumansCells
    37. Hashem V, Tiwari A, Bewick B, Bushara K, Bower M, Rasmussen A, Tsai YC, Clark T, McFarland K, Ashizawa T, Teive HAG, Moscovich M, Sch?ele B. Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10. PLoS One. 2020; 15(3):e0228789. PMID: 32160188; PMCID: PMC7065784.
      Citations: 5     Fields:    Translation:HumansCells
    38. Gan SR, Figueroa KP, Xu HL, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Rosenthal L, Ashizawa T, Pulst SM, Wang N, Kuo SH. The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. Parkinsonism Relat Disord. 2020 03; 72:37-43. PMID: 32105964; PMCID: PMC7160000.
      Citations: 5     Fields:    Translation:Humans
    39. Johnson NE, Aldana EZ, Angeard N, Ashizawa T, Berggren KN, Marini-Bettolo C, Duong T, Sansone V, Tian C, Hellerstein L, Campbell C, Ekstr?m AB. Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1. Neurol Clin Pract. 2019 Oct; 9(5):443-454. PMID: 31750030; PMCID: PMC6814415.
      Citations: 7     
    40. Ashizawa T, Domingues BMD, Nascimento FA, Meira AT, Moro A, Raskin S, Teive HAG. Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families. Cerebellum. 2019 Oct; 18(5):849-854. PMID: 31377949.
      Citations: 1     Fields:    Translation:HumansCells
    41. Ashizawa T, Nascimento FA, Rodrigues VOR, Pelloso FC, Camargo CHF, Moro A, Raskin S, Teive HAG. Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families. Clin Neurol Neurosurg. 2019 Sep; 184:105427. PMID: 31323545.
      Citations:    Fields:    Translation:Humans
    42. Lai RY, Tomishon D, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH. Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. Cerebellum. 2019 Jun; 18(3):519-526. PMID: 30830673; PMCID: PMC6520148.
      Citations: 8     Fields:    Translation:Humans
    43. Gao R, Chakraborty A, Geater C, Pradhan S, Gordon KL, Snowden J, Yuan S, Dickey AS, Choudhary S, Ashizawa T, Ellerby LM, La Spada AR, Thompson LM, Hazra TK, Sarkar PS. Mutant huntingtin impairs PNKP and ATXN3, disrupting DNA repair and transcription. Elife. 2019 04 17; 8. PMID: 30994454; PMCID: PMC6529219.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    44. Ashizawa AT, Holt J, Faust K, Liu W, Tiwari A, Zhang N, Ashizawa T. Intravenously Administered Novel Liposomes, DCL64, Deliver Oligonucleotides to Cerebellar Purkinje Cells. Cerebellum. 2019 Feb; 18(1):99-108. PMID: 29987489; PMCID: PMC6326905.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    45. Munhoz RP, McFarland K, Ashizawa T, Moscovich M, Moro A, Raskin S, Teive HAG, Silveira-Moriyama L. Olfactory Function in SCA10. Cerebellum. 2019 Feb; 18(1):85-90. PMID: 29922950; PMCID: PMC6452857.
      Citations: 4     Fields:    Translation:HumansCells
    46. Ashizawa T, Paulson HL, ?z G. Author Correction: Spinocerebellar ataxias: prospects and challenges for therapy development. Nat Rev Neurol. 2018 Dec; 14(12):749. PMID: 30410042.
      Citations: 1     Fields:    
    47. Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S, Trujillo C. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018 Dec; 8(6):507-520. PMID: 30588381; PMCID: PMC6294540.
      Citations: 33     
    48. Fabiani G, Ashizawa T, Martins R, Germiniani FMB, Teive HAG. 99mTc-TRODAT-1 SPECT Showing Dopaminergic Deficiency in a Patient with Spinocerebellar Ataxia Type 10 and Parkinsonism. Mov Disord Clin Pract. 2019 Jan; 6(1):85-87. PMID: 30746424; PMCID: PMC6335547.
      Citations: 1     
    49. Ding D, Wang C, Chen Z, Peng H, Li K, Zhou X, Peng Y, Wang P, Hou X, Li T, Qiu R, Xia K, Sequeiros J, Ashizawa T, Tang B, Jiang H. Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease. Neurobiol Aging. 2019 03; 75:225.e1-225.e8. PMID: 30554804.
      Citations: 4     Fields:    Translation:HumansCells
    50. Xia G, Terada N, Ashizawa T. Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies. Curr Stem Cell Rep. 2018; 4(4):299-309. PMID: 30524939; PMCID: PMC6244555.
      Citations: 7     
    51. Ashizawa T, Paulson HL, ?z G. Spinocerebellar ataxias: prospects and challenges for therapy development. Nat Rev Neurol. 2018 10; 14(10):590-605. PMID: 30131520; PMCID: PMC6469934.
      Citations: 52     Fields:    Translation:HumansAnimals
    52. Ayhan F, Perez BA, Shorrock HK, Zu T, Banez-Coronel M, Reid T, Furuya H, Clark HB, Troncoso JC, Ross CA, Subramony SH, Ashizawa T, Wang ET, Yachnis AT, Ranum LP. SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F. EMBO J. 2018 10 01; 37(19). PMID: 30206144; PMCID: PMC6166133.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    53. Wang Y, Hao L, Wang H, Santostefano K, Thapa A, Cleary J, Li H, Guo X, Terada N, Ashizawa T, Xia G. Therapeutic Genome Editing for Myotonic Dystrophy Type 1?Using CRISPR/Cas9. Mol Ther. 2018 Nov 07; 26(11):2617-2630. PMID: 30274788; PMCID: PMC6225032.
      Citations: 24     Fields:    Translation:HumansCells
    54. Hamedani AG, Hauser LA, Perlman S, Mathews K, Wilmot GR, Zesiewicz T, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Lynch DR. Longitudinal analysis of contrast acuity in Friedreich ataxia. Neurol Genet. 2018 Aug; 4(4):e250. PMID: 30065952; PMCID: PMC6066362.
      Citations: 7     
    55. Munhoz RP, Ashizawa T, Leite CMBA, Schieferdecker MEM, Frehner C, Teive HAG. Body composition in Spinocerebellar ataxia type 3 and 10 patients: Comparative study with control group. Nutr Neurosci. 2020 Jan; 23(1):49-54. PMID: 29734917; PMCID: PMC6996146.
      Citations: 1     Fields:    Translation:HumansCells
    56. Munhoz RP, Ashizawa T, London E, Camargo CHF, Zanatta A, Crippa AC, Raskin S, Teive HAG. Sleep disorders in spinocerebellar ataxia type 10. J Sleep Res. 2018 10; 27(5):e12688. PMID: 29624773.
      Citations: 3     Fields:    Translation:HumansCells
    57. Sznajder LJ, Thomas JD, Carrell EM, Reid T, McFarland KN, Cleary JD, Oliveira R, Nutter CA, Bhatt K, Sobczak K, Ashizawa T, Thornton CA, Ranum LPW, Swanson MS. Intron retention induced by microsatellite expansions as a disease biomarker. Proc Natl Acad Sci U S A. 2018 04 17; 115(16):4234-4239. PMID: 29610297; PMCID: PMC5910826.
      Citations: 39     Fields:    Translation:HumansCells
    58. Munhoz R, Raskin S, Ashizawa T, Silva GV, Bonilha P, Moro A, Nascimento FA, Teive HAG. Spinocerebellar ataxias type 3 and 10: Onset and progression of ataxia during pregnancy and puerperium. Parkinsonism Relat Disord. 2018 07; 52:119-120. PMID: 29609848.
      Citations: 1     Fields:    Translation:HumansCells
    59. Ashizawa T. A crystal ball for survival for spinocerebellar ataxias? Lancet Neurol. 2018 04; 17(4):292-294. PMID: 29553373.
      Citations:    Fields:    Translation:Humans
    60. Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL, Sch?ls L. Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology. 2018 03 06; 90(10):464-471. PMID: 29440566; PMCID: PMC5863491.
      Citations: 36     Fields:    Translation:Humans
    61. Zhang L, McFarland KN, Subramony SH, Heilman KM, Ashizawa T. Correction to: SPG7 and Impaired Emotional Communication. Cerebellum. 2017 12; 16(5-6):991. PMID: 29181771.
      Citations:    Fields:    
    62. Munhoz RP, Raskin S, Ashizawa T, Moro A, Moscovich M, Arruda WO, Silveira-Moriyama L, Teive HAG. Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10. Cerebellum. 2017 Dec; 16(5-6):938-944. PMID: 28589261; PMCID: PMC5718954.
      Citations: 10     Fields:    Translation:HumansCells
    63. Figueroa KP, Gan SR, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Pulst SM, Kuo SH. C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias. Mov Disord. 2018 03; 33(3):497-498. PMID: 29193335; PMCID: PMC6200142.
      Citations: 2     Fields:    Translation:HumansCells
    64. Kuo PH, Gan SR, Wang J, Lo RY, Figueroa KP, Tomishon D, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH. Dystonia and ataxia progression in spinocerebellar ataxias. Parkinsonism Relat Disord. 2017 Dec; 45:75-80. PMID: 29089256; PMCID: PMC6089251.
      Citations: 20     Fields:    Translation:Humans
    65. Gan SR, Wang J, Figueroa KP, Pulst SM, Tomishon D, Lee D, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH. Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias. Tremor Other Hyperkinet Mov (N Y). 2017; 7:492. PMID: 29057148; PMCID: PMC5647398.
      Citations: 10     Fields:    Translation:HumansCells
    66. Zu T, Cleary JD, Liu Y, Bubenik JL, Ayhan F, Ashizawa T, Xia G, Clark HB, Yachnis AT, Swanson MS, Ranum LPW, Ba?ez-Coronel M. RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2. Neuron. 2017 Sep 13; 95(6):1292-1305.e5. PMID: 28910618; PMCID: PMC5951173.
      Citations: 54     Fields:    Translation:HumansCells
    67. Shiokawa N, Ashizawa T, Spina Tensini F, Sato MT, Teive HAG. A Comparative Optical Coherence Tomography Study of Spinocerebellar Ataxia Types 3 and 10. Cerebellum. 2017 08; 16(4):797-801. PMID: 28401494; PMCID: PMC6996148.
      Citations: 6     Fields:    Translation:HumansCells
    68. Luo L, Wang J, Lo RY, Figueroa KP, Pulst SM, Kuo PH, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH. The Initial Symptom and Motor Progression in Spinocerebellar Ataxias. Cerebellum. 2017 06; 16(3):615-622. PMID: 27848087; PMCID: PMC5429172.
      Citations: 16     Fields:    Translation:HumansCells
    69. Landrian I, McFarland KN, Liu J, Mulligan CJ, Rasmussen A, Ashizawa T. Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. PLoS One. 2017; 12(4):e0175958. PMID: 28423040; PMCID: PMC5397023.
      Citations: 7     Fields:    Translation:HumansCells
    70. Zhang L, McFarland KN, Subramony SH, Heilman KM, Ashizawa T. SPG7 and Impaired Emotional Communication. Cerebellum. 2017 04; 16(2):595-598. PMID: 27557734; PMCID: PMC5325812.
      Citations: 4     Fields:    Translation:Humans
    71. Chen Z, Wang C, Zheng C, Long Z, Cao L, Li X, Shang H, Yin X, Zhang B, Liu J, Ding D, Peng Y, Peng H, Ye W, Qiu R, Pan Q, Xia K, Chen S, Ashizawa T, Tang B, Jiang H, Chinese Clinical Research Cooperative Group for Spinocerebellar Ataxias (CCRCG-SCA), Sequeiros J. Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease. Brain. 2017 04 01; 140(4):e25. PMID: 28334945.
      Citations: 5     Fields:    Translation:HumansCells
    72. Zhang N, Ashizawa T. RNA toxicity and foci formation in microsatellite expansion diseases. Curr Opin Genet Dev. 2017 Jun; 44:17-29. PMID: 28208060; PMCID: PMC5447490.
      Citations: 37     Fields:    Translation:HumansCells
    73. Li PP, Sun X, Xia G, Arbez N, Paul S, Zhu S, Peng HB, Ross CA, Koeppen AH, Margolis RL, Pulst SM, Ashizawa T, Rudnicki DD. ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis. Ann Neurol. 2016 10; 80(4):600-15. PMID: 27531668; PMCID: PMC6555153.
      Citations: 27     Fields:    Translation:HumansAnimalsCells
    74. Ashizawa T, Xia G. Ataxia. Continuum (Minneap Minn). 2016 Aug; 22(4 Movement Disorders):1208-26. PMID: 27495205; PMCID: PMC5567218.
      Citations: 16     Fields:    Translation:Humans
    75. Kang N, Christou EA, Burciu RG, Chung JW, DeSimone JC, Ofori E, Ashizawa T, Subramony SH, Vaillancourt DE. Sensory and motor cortex function contributes to symptom severity in spinocerebellar ataxia type 6. Brain Struct Funct. 2017 03; 222(2):1039-1052. PMID: 27352359; PMCID: PMC6276122.
      Citations: 4     Fields:    Translation:Humans
    76. Gao Y, Guo X, Santostefano K, Wang Y, Reid T, Zeng D, Terada N, Ashizawa T, Xia G. Genome Therapy of Myotonic Dystrophy Type 1 iPS Cells for Development of Autologous Stem Cell Therapy. Mol Ther. 2016 08; 24(8):1378-87. PMID: 27203440; PMCID: PMC5023370.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    77. Chen Z, Zheng C, Long Z, Cao L, Li X, Shang H, Yin X, Zhang B, Liu J, Ding D, Peng Y, Wang C, Peng H, Ye W, Qiu R, Pan Q, Xia K, Chen S, Ashizawa T, Klockgether T, Tang B, Jiang H, Chinese Clinical Research Cooperative Group for Spinocerebellar Ataxias (CCRCG-SCA), Sequeiros J. (CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China. Brain. 2016 08; 139(Pt 8):e41. PMID: 27085188.
      Citations: 11     Fields:    Translation:Humans
    78. Jen JC, Ashizawa T, Griggs RC, Waters MF. Rare neurological channelopathies--networks to study patients, pathogenesis and treatment. Nat Rev Neurol. 2016 Apr; 12(4):195-203. PMID: 26943780; PMCID: PMC6609097.
      Citations: 6     Fields:    Translation:Humans
    79. Paap BK, Roeske S, Ashizawa T, Boesch S, Bunn LM, Delatycki MB, Giunti P, Mariotti C, Tallaksen CME, Timmann D, Tsuji S, van de Warrenburg BP, Klockgether T, Durr A, Sch?ls L, Leh?ricy S, Melegh J, Pandolfo M, Schulz JB. Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies. Mov Disord Clin Pract. 2016 May-Jun; 3(3):230-240. PMID: 30363623; PMCID: PMC6178745.
      Citations: 5     
    80. Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, Fogel BL, Wilmot GR, Perlman SL, Onyike CU, Ying SH, Zesiewicz TA. Emerging therapies in Friedreich's ataxia. Neurodegener Dis Manag. 2016; 6(1):49-65. PMID: 26782317; PMCID: PMC4768799.
      Citations: 27     Fields:    Translation:Humans
    81. Shi Y, Wang C, Huang F, Chen Z, Sun Z, Wang J, Tang B, Ashizawa T, Klockgether T, Jiang H. High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression. Cerebellum. 2015 Dec; 14(6):677-81. PMID: 25869927.
      Citations: 5     Fields:    Translation:HumansCells
    82. Lo RY, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai VG, Ying S, Zesiewicz T, Bushara K, Geschwind M, Xia G, Yu JT, Lee LE, Ashizawa T, Subramony SH, Kuo SH. Depression and clinical progression in spinocerebellar ataxias. Parkinsonism Relat Disord. 2016 Jan; 22:87-92. PMID: 26644294; PMCID: PMC4695274.
      Citations: 33     Fields:    Translation:Humans
    83. Wang K, McFarland KN, Liu J, Zeng D, Landrian I, Xia G, Hao Y, Jin M, Mulligan CJ, Gu W, Ashizawa T. Spinocerebellar ataxia type 10 in Chinese Han. Neurol Genet. 2015 Oct; 1(3):e26. PMID: 27066563; PMCID: PMC4809459.
      Citations: 10     
    84. McFarland KN, Liu J, Landrian I, Godiska R, Shanker S, Yu F, Farmerie WG, Ashizawa T. SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure. PLoS One. 2015; 10(8):e0135906. PMID: 26295943; PMCID: PMC4546671.
      Citations: 25     Fields:    Translation:HumansCells
    85. Ashizawa T, Teive HA. Primary and secondary ataxias. Curr Opin Neurol. 2015 Aug; 28(4):413-22. PMID: 26132530; PMCID: PMC6516769.
      Citations: 19     Fields:    Translation:Humans
    86. Munhoz RP, Ashizawa T, Teive HA, Moro A, Moscovich M, Arruda WO, Raskin S, Teive GM, Dallabrida N. Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection. Arq Neuropsiquiatr. 2015 Aug; 73(8):725-7. PMID: 26222367; PMCID: PMC4670564.
      Citations: 4     Fields:    Translation:HumansCells
    87. Wang C, Chen Z, Yang F, Jiao B, Peng H, Shi Y, Wang Y, Huang F, Wang J, Shen L, Xia K, Tang B, Ashizawa T, Jiang H. Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China. PLoS One. 2015; 10(6):e0130336. PMID: 26083476; PMCID: PMC4470924.
      Citations: 5     Fields:    Translation:HumansCells
    88. Xia G, Gao Y, Jin S, Subramony SH, Terada N, Ranum LP, Swanson MS, Ashizawa T. Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells. Stem Cells. 2015 Jun; 33(6):1829-38. PMID: 25702800; PMCID: PMC4441571.
      Citations: 35     Fields:    Translation:HumansCells
    89. Munhoz RP, Raskin S, Ashizawa T, Teive HA, Moro A, Moscovich M, Arruda WO. Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci. 2015 Aug 15; 355(1-2):3-6. PMID: 26050521; PMCID: PMC5161405.
      Citations: 30     Fields:    Translation:HumansAnimals
    90. Moscovich M, Okun MS, Favilla C, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai V, Ying S, Zesiewicz T, Kuo SH, Mazzoni P, Bushara K, Xia G, Ashizawa T, Subramony SH. Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study. J Neuroophthalmol. 2015 Mar; 35(1):16-21. PMID: 25259863; PMCID: PMC4675453.
      Citations: 24     Fields:    Translation:Humans
    91. Xia G, Ashizawa T. Dynamic changes of nuclear RNA foci in proliferating DM1 cells. Histochem Cell Biol. 2015 Jun; 143(6):557-64. PMID: 25715678; PMCID: PMC4439307.
      Citations: 16     Fields:    Translation:HumansCells
    92. Long Z, Chen Z, Wang C, Huang F, Peng H, Hou X, Ding D, Ye W, Wang J, Pan Q, Li J, Xia K, Tang B, Ashizawa T, Jiang H. Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients. PLoS One. 2015; 10(2):e0117488. PMID: 25689313; PMCID: PMC4331546.
      Citations: 11     Fields:    Translation:Humans
    93. Lo RY, Figueroa KP, Pulst SM, Lin CY, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH. Vascular risk factors and clinical progression in spinocerebellar ataxias. Tremor Other Hyperkinet Mov (N Y). 2015; 5:287. PMID: 25713748; PMCID: PMC4314609.
      Citations: 5     Fields:    
    94. Akbar U, Ashizawa T. Ataxia. Neurol Clin. 2015 Feb; 33(1):225-48. PMID: 25432731; PMCID: PMC4251489.
      Citations: 25     Fields:    Translation:Humans
    95. Chatterjee A, Saha S, Chakraborty A, Mandal SM, Liu Y, Pandita RK, Hegde ML, Hegde PM, Boldogh I, Ashizawa T, Koeppen AH, Pandita TK, Sarkar PS, Hazra TK, Silva-Fernandes A, Neves-Carvalho A, Maciel P. The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis. PLoS Genet. 2015 Jan; 11(1):e1004749. PMID: 25633985; PMCID: PMC4310589.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    96. Gao R, Liu Y, Silva-Fernandes A, Fang X, Paulucci-Holthauzen A, Chatterjee A, Zhang HL, Matsuura T, Choudhary S, Ashizawa T, Koeppen AH, Maciel P, Hazra TK, Sarkar PS. Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3. PLoS Genet. 2015 Jan; 11(1):e1004834. PMID: 25590633; PMCID: PMC4295939.
      Citations: 37     Fields:    Translation:HumansCells
    97. Lo RY, Figueroa KP, Pulst SM, Lin CY, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai VG, Ying S, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH. Coenzyme Q10 and spinocerebellar ataxias. Mov Disord. 2015 Feb; 30(2):214-20. PMID: 25449974; PMCID: PMC4674072.
      Citations: 13     Fields:    Translation:Humans
    98. Oyama G, Thompson A, Foote KD, Limotai N, Abd-El-Barr M, Maling N, Malaty IA, Rodriguez RL, Subramony SH, Ashizawa T, Okun MS. Deep brain stimulation for tremor associated with underlying ataxia syndromes: a case series and discussion of issues. Tremor Other Hyperkinet Mov (N Y). 2014; 4:228. PMID: 25120941; PMCID: PMC4101398.
      Citations: 12     Fields:    
    99. Figueroa KP, Ichikawa Y, Rakowicz M, Mariotti C, van de Warrenburg BP, Giunti P, Filla A, Szymanski S, Klockgether T, Boesch S, Timmann D, Mandich P, Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA), EUROSCA network, Goto J, Ashizawa T, Tsuji S, Pulst SM, Tezenas du Montcel S, Durr A, Bauer P, Brussino A, Forlani S, Sch?ls L, Orsi L, Berciano J, Pandolfo M, Melegh B, Camuzat A, Cazeneuve C, Brusco A, Riess O, Brice A, Stevanin G. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014 Sep; 137(Pt 9):2444-55. PMID: 24972706; PMCID: PMC4132646.
      Citations: 54     Fields:    Translation:HumansCells
    100. Leonardi L, Marcotulli C, McFarland KN, Tessa A, DiFabio R, Santorelli FM, Pierelli F, Ashizawa T, Casali C. Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease. J Neurol. 2014 Sep; 261(9):1691-4. PMID: 24935856; PMCID: PMC4221246.
      Citations: 11     Fields:    Translation:HumansCells
    101. McFarland KN, Liu J, Landrian I, Zeng D, Raskin S, Moscovich M, Gatto EM, Ochoa A, Rasmussen A, Ashizawa T, Teive HA. Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics. 2014 Mar; 15(1):59-64. PMID: 24318420; PMCID: PMC4038098.
      Citations: 24     Fields:    Translation:HumansCells
    102. Subramony SH, Advincula J, Perlman S, Rosales RL, Lee LV, Ashizawa T, Waters MF. Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13. Cerebellum. 2013 Dec; 12(6):932-6. PMID: 23912307; PMCID: PMC3824261.
      Citations: 12     Fields:    Translation:Humans
    103. Bushara K, Bower M, Liu J, McFarland KN, Landrian I, Hutter D, Rasmussen A, Mulligan CJ, Ashizawa T, Teive HA. Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry. PLoS One. 2013; 8(11):e81342. PMID: 24278426; PMCID: PMC3835687.
      Citations: 15     Fields:    Translation:HumansCells
    104. Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Gamez J, Ashizawa T, Mendell JR, Krahe R, Bassez G, Eymard B, Udd B. Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. Neuromuscul Disord. 2014 Mar; 24(3):227-40. PMID: 24332166; PMCID: PMC3943873.
      Citations: 18     Fields:    Translation:HumansCells
    105. Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson JH, Pulst SM, Subramony SH. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet J Rare Dis. 2013 Nov 13; 8:177. PMID: 24225362; PMCID: PMC3843578.
      Citations: 49     Fields:    Translation:Humans
    106. Ashizawa T, Teive HA. Spinocerebellar ataxia type 10: from Amerindians to Latin Americans. Curr Neurol Neurosci Rep. 2013 Nov; 13(11):393. PMID: 24027006; PMCID: PMC3915402.
      Citations: 4     Fields:    Translation:HumansCells
    107. Middlebrooks JC, Nick HS, Subramony SH, Advincula J, Rosales RL, Lee LV, Ashizawa T, Waters MF. Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms. PLoS One. 2013; 8(10):e76749. PMID: 24116147; PMCID: PMC3792041.
      Citations: 19     Fields:    Translation:HumansCells
    108. Xia G, McFarland KN, Wang K, Sarkar PS, Yachnis AT, Ashizawa T. Purkinje cell loss is the major brain pathology of spinocerebellar ataxia type 10. J Neurol Neurosurg Psychiatry. 2013 Dec; 84(12):1409-11. PMID: 23813740; PMCID: PMC3923576.
      Citations: 14     Fields:    Translation:HumansCells
    109. Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT. Diagnostic odyssey of patients with myotonic dystrophy. J Neurol. 2013 Oct; 260(10):2497-504. PMID: 23807151; PMCID: PMC4162528.
      Citations: 30     Fields:    Translation:Humans
    110. Seyer LA, Galetta K, Wilson J, Sakai R, Perlman S, Mathews K, Wilmot GR, Gomez CM, Ravina B, Zesiewicz T, Bushara KO, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Balcer LJ, Lynch DR. Analysis of the visual system in Friedreich ataxia. J Neurol. 2013 Sep; 260(9):2362-9. PMID: 23775342.
      Citations: 20     Fields:    Translation:Humans
    111. Chen Z, Wang JL, Tang BS, Sun ZF, Shi YT, Shen L, Lei LF, Wei XM, Xiao JJ, Hu ZM, Pan Q, Xia K, Zhang QY, Dai MZ, Liu Y, Ashizawa T, Jiang H. Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. Neurobiol Aging. 2013 Oct; 34(10):2442.e11-7. PMID: 23726790.
      Citations: 13     Fields:    Translation:HumansCells
    112. Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics. 2013 Nov; 14(3-4):173-9. PMID: 23644918; PMCID: PMC3825533.
      Citations: 3     Fields:    Translation:Humans
    113. Xia G, Santostefano KE, Goodwin M, Liu J, Subramony SH, Swanson MS, Terada N, Ashizawa T. Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesis. Cell Reprogram. 2013 Apr; 15(2):166-77. PMID: 23550732; PMCID: PMC3616452.
      Citations: 26     Fields:    Translation:HumansCellsCTClinical Trials
    114. McFarland KN, Liu J, Landrian I, Gao R, Sarkar PS, Raskin S, Moscovich M, Gatto EM, Ochoa A, Rasmussen A, Ashizawa T, Teive HA. Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. Eur J Hum Genet. 2013 Nov; 21(11):1272-6. PMID: 23443018; PMCID: PMC3798839.
      Citations: 19     Fields:    Translation:HumansCells
    115. Moro A, Munhoz RP, Raskin S, Bezerra TC, Moscovich M, Ashizawa T, Teive HA. Acute onset of cerebellar ataxia in a spinocerebellar ataxia type 10 patient after use of steroids. Arq Neuropsiquiatr. 2013 Jan; 71(1):66. PMID: 23338165; PMCID: PMC3915404.
      Citations: 1     Fields:    Translation:HumansCells
    116. Xia G, Santostefano K, Hamazaki T, Liu J, Subramony SH, Terada N, Ashizawa T. Generation of human-induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro. J Mol Neurosci. 2013 Oct; 51(2):237-48. PMID: 23224816; PMCID: PMC3608734.
      Citations: 28     Fields:    Translation:HumansCells
    117. Waters MF, Subramony SH, Advincula J, Perlman S, Ashizawa T. Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H). Neurology. 2012 Sep 11; 79(11):1181-2. PMID: 22933745; PMCID: PMC3525304.
      Citations: 2     Fields:    Translation:Humans
    118. Charizanis K, Lee KY, Batra R, Goodwin M, Zhang C, Yuan Y, Shiue L, Cline M, Scotti MM, Xia G, Kumar A, Ashizawa T, Clark HB, Kimura T, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Sakai N, Nishino S, Foster TC, Ares M, Darnell RB, Swanson MS, Gomes-Pereira M, Gourdon G. Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron. 2012 Aug 09; 75(3):437-50. PMID: 22884328; PMCID: PMC3418517.
      Citations: 172     Fields:    Translation:HumansAnimalsCells
    119. McFarland KN, Ashizawa T. Transgenic models of spinocerebellar ataxia type 10: modeling a repeat expansion disorder. Genes (Basel). 2012 Sep; 3(3):481-491. PMID: 24533179; PMCID: PMC3899997.
      Citations: 3     Fields:    
    120. Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Population stratification may bias analysis of PGC-1a as a modifier of age at Huntington disease motor onset. Hum Genet. 2012 Dec; 131(12):1833-40. PMID: 22825315; PMCID: PMC3492689.
      Citations: 13     Fields:    Translation:HumansCells
    121. Munhoz RP, Teive HA, Raskin S, Carvalho Mde J, Barbosa ER, Ranvaud R, Liu J, McFarland K, Ashizawa T, Lees AJ, Silveira-Moriyama L, Moscovich M. Olfactory impairment in familial ataxias. J Neurol Neurosurg Psychiatry. 2012 Oct; 83(10):970-4. PMID: 22791905; PMCID: PMC3521149.
      Citations: 12     Fields:    Translation:Humans
    122. Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Landwehrmeyer GB, Registry Study of the European Huntington's Disease Network, Shoulson I, Huntington Study Group COHORT project, Myers RH, MacDonald ME, Gusella JF. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochem Biophys Res Commun. 2012 Aug 03; 424(3):404-8. PMID: 22771793; PMCID: PMC3752397.
      Citations: 7     Fields:    Translation:HumansCells
    123. Regner SR, Wilcox NS, Friedman LS, Seyer LA, Schadt KA, Brigatti KW, Perlman S, Delatycki M, Wilmot GR, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Ravina B, Brocht A, Farmer JM, Lynch DR. Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants. J Child Neurol. 2012 Sep; 27(9):1152-8. PMID: 22752494; PMCID: PMC3674496.
      Citations: 17     Fields:    Translation:HumansCells
    124. Ashizawa T, Ranum LP. GGCCTG repeats put a hex on Purkinje cells and motor neurons in SCA36. Neurology. 2012 Jul 24; 79(4):302-3. PMID: 22744663.
      Citations: 1     Fields:    Translation:HumansCells
    125. Morales F, Couto JM, Higham CF, Hogg G, Cuenca P, Braida C, Wilson RH, Adam B, del Valle G, Brian R, Sittenfeld M, Ashizawa T, Wilcox A, Wilcox DE, Monckton DG. Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. Hum Mol Genet. 2012 Aug 15; 21(16):3558-67. PMID: 22595968.
      Citations: 77     Fields:    Translation:HumansCells
    126. Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, MacDonald ME, Gusella JF. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet. 2012 Mar 09; 90(3):434-44. PMID: 22387017; PMCID: PMC3309179.
      Citations: 31     Fields:    Translation:HumansCells
    127. Ashizawa T. Spinocerebellar ataxia type 10. Handb Clin Neurol. 2012; 103:507-19. PMID: 21827910; PMCID: PMC10083001.
      Citations: 8     Fields:    Translation:HumansCells
    128. Munhoz RP, Arruda WO, Lopes-Cendes I, Raskin S, Werneck LC, Ashizawa T, Teive HA. Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families. Clinics (Sao Paulo). 2012; 67(5):443-9. PMID: 22666787; PMCID: PMC3351252.
      Citations: 21     Fields:    Translation:HumansCells
    129. Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, M?ller U, Pt?cek LJ. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26; 1(1):2-12. PMID: 22832103; PMCID: PMC3334308.
      Citations: 96     Fields:    Translation:HumansAnimalsCells
    130. Oyama G, Okun MS, Ashizawa T, Malaty IA. Paroxysmal Kinesigenic Dyskinesia-like Symptoms in a Patient with Tourette Syndrome. Tremor Other Hyperkinet Mov (N Y). 2011; 1. PMID: 23440654; PMCID: PMC3570039.
      Citations: 4     Fields:    
    131. White M, Xia G, Gao R, Wakamiya M, Sarkar PS, McFarland K, Ashizawa T. Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model. J Neurosci Res. 2012 Mar; 90(3):706-14. PMID: 22065565; PMCID: PMC3307599.
      Citations: 26     Fields:    Translation:AnimalsCells
    132. Munhoz RP, Ashizawa T, Teive HA. Spinocerebellar ataxia type 10: disproportionate cerebellar symptoms among at-risk subjects induced by small amounts of alcohol. Arq Neuropsiquiatr. 2011 Oct; 69(5):841. PMID: 22042193.
      Citations: 1     Fields:    Translation:Humans
    133. Subramony SH, Ashizawa T, Langford L, McKenna R, Avvaru B, Siddique T, Vedanarayanan V. Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene. Muscle Nerve. 2011 Oct; 44(4):499-502. PMID: 21755517.
      Citations: 1     Fields:    Translation:Humans
    134. Munhoz RP, Arruda WO, Raskin S, Ashizawa T, Teive HA, Werneck LC. Spinocerebellar ataxia type 10 - A review. Parkinsonism Relat Disord. 2011 Nov; 17(9):655-61. PMID: 21531163.
      Citations: 35     Fields:    Translation:Humans
    135. Munhoz RP, Ashizawa T, Teive HA. New gene of spinocerebellar ataxia. Brain. 2011 Jul; 134(Pt 7):e179. PMID: 21357611.
      Citations:    Fields:    Translation:HumansCells
    136. Cherng N, Shishkin AA, Schlager LI, Tuck RH, Sloan L, Matera R, Sarkar PS, Ashizawa T, Freudenreich CH, Mirkin SM. Expansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast. Proc Natl Acad Sci U S A. 2011 Feb 15; 108(7):2843-8. PMID: 21282659; PMCID: PMC3041125.
      Citations: 33     Fields:    Translation:HumansAnimalsCells
    137. Ashizawa T, Sarkar PS. Myotonic dystrophy types 1 and 2. Handb Clin Neurol. 2011; 101:193-237. PMID: 21496635.
      Citations: 25     Fields:    Translation:Humans
    138. Munhoz RP, Raskin S, Arruda WO, de Paola L, Werneck LC, Ashizawa T, Teive HA. Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients. Mov Disord. 2010 Dec 15; 25(16):2875-8. PMID: 20818609; PMCID: PMC3000879.
      Citations: 21     Fields:    Translation:Humans
    139. 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
    140. Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR. Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord. 2010 Mar 15; 25(4):426-32. PMID: 20063431; PMCID: PMC2954653.
      Citations: 48     Fields:    Translation:HumansCells
    141. Ahn AH, Ashizawa T. Headaches and the blues: a shared genetic association between migraine and depression. Neurology. 2010 Jan 26; 74(4):278-9. PMID: 20071665.
      Citations:    Fields:    Translation:Humans
    142. Schoser B, Ashizawa T. How much expansion to be diseased?: toward repeat size and myotonic dystrophy type 2. Neurology. 2009 Feb 10; 72(6):484-5. PMID: 19204257.
      Citations: 2     Fields:    Translation:HumansCells
    143. Epstein E, Farmer JM, Tsou A, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews K, Wilson RB, Balcer LJ, Lynch DR. Health related quality of life measures in Friedreich Ataxia. J Neurol Sci. 2008 Sep 15; 272(1-2):123-8. PMID: 18571673.
      Citations: 15     Fields:    Translation:Humans
    144. Cuenca P, del Valle G, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T, Morales F, V?squez M. Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. Rev Biol Trop. 2008 Mar; 56(1):1-11. PMID: 18624224.
      Citations: 5     Fields:    Translation:Humans
    145. Morales F, Cuenca P, del Valle G, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T, V?squez M. Gene symbol: CLCN1. Disease: Myotonia congenita. Hum Genet. 2008 Feb; 123(1):104-5. PMID: 18386321.
      Citations:    Fields:    Translation:Humans
    146. Arruda WO, Raskin S, Ashizawa T, Teive HA, Werneck LC. The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene. Arq Neuropsiquiatr. 2007 Dec; 65(4A):965-8. PMID: 18094855.
      Citations: 3     Fields:    Translation:Humans
    147. Gao R, Matsuura T, Coolbaugh M, Nakamura K, Rasmussen A, Siciliano MJ, Ashizawa T, Lin X, Z?hlke C. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet. 2008 Feb; 16(2):215-22. PMID: 18043721.
      Citations: 25     Fields:    Translation:HumansCells
    148. Myers L, Farmer JM, Wilson RB, Friedman L, Tsou A, Perlman SL, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews KD, Balcer LJ, Lynch DR. Antioxidant use in Friedreich ataxia. J Neurol Sci. 2008 Apr 15; 267(1-2):174-6. PMID: 17988688; PMCID: PMC2279016.
      Citations: 14     Fields:    Translation:HumansCellsCTClinical Trials
    149. Morales F, Cuenca P, del Valle G, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T, V?squez M. Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive. Hum Genet. 2007 Nov; 122(3-4):413. PMID: 17717708.
      Citations:    Fields:    Translation:Humans
    150. De Biase I, Yescas P, Ochoa A, Ashizawa T, Bidichandani SI, Rasmussen A, Fragoso-Ben?tez M, Mac?as-Flores MA, Alonso ME. Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann Neurol. 2007 Jun; 61(6):607-10. PMID: 17474109.
      Citations: 4     Fields:    Translation:HumansCells
    151. De Biase I, Mader C, Ochoa A, Yescas P, White M, Ashizawa T, Bidichandani SI, Rasmussen A, Alonso E, Mart?nez-Ruano L, Guti?rrez R, Ruano L, Fragoso-Ben?tez M. Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord. 2007 May 15; 22(7):1050-3. PMID: 17427938.
      Citations: 18     Fields:    Translation:HumansCells
    152. Raskin S, Ashizawa T, Arruda WO, Fang P, Gao R, White MC, Werneck LC, Roa B, Teive HA. Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10. Arch Neurol. 2007 Apr; 64(4):591-4. PMID: 17420323.
      Citations: 17     Fields:    Translation:HumansCells
    153. Li JL, Hayden MR, Warby SC, Durr A, Morrison PJ, Nance M, Ross CA, Margolis RL, Rosenblatt A, Squitieri F, Frati L, Suchowersky O, Klimek ML, Trent RJ, McCusker E, Novelletto A, Frontali M, Paulsen JS, Jones R, Ashizawa T, Lazzarini A, Wheeler VC, Prakash R, Xu G, Mysore JS, Gillis T, Hakky M, Cupples LA, Saint-Hilaire MH, Cha JH, Hersch SM, Penney JB, Harrison MB, Perlman SL, Zanko A, Abramson RK, Lechich AJ, Duckett A, Marder K, Conneally PM, Gusella JF, MacDonald ME, Myers RH, G?mez-Tortosa E, Garc?a CA, Djouss? L. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet. 2006 Aug 17; 7:71. PMID: 16914060; PMCID: PMC1586197.
      Citations: 34     Fields:    Translation:HumansCells
    154. Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP, Rocca WA, Schneider NK, Lesnick TG, Lincoln SJ, Hulihan MM, Aasly JO, Ashizawa T, Chartier-Harlin MC, Checkoway H, Ferrarese C, Hadjigeorgiou G, Hattori N, Kawakami H, Lambert JC, Lynch T, Mellick GD, Papapetropoulos S, Parsian A, Quattrone A, Riess O, Tan EK, Van Broeckhoven C, Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium, Kr?ger R. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA. 2006 Aug 09; 296(6):661-70. PMID: 16896109.
      Citations: 221     Fields:    Translation:HumansCells
    155. Al-Ramahi I, De Gouyon B, Ukani L, Rosa A, Ashizawa T, Cooper TA, Botas J, de Haro M, Faustino NA. MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. Hum Mol Genet. 2006 Jul 01; 15(13):2138-45. PMID: 16723374.
      Citations: 69     Fields:    Translation:HumansAnimalsCells
    156. Waragai M, Nagamitsu S, Xu W, Li YJ, Lin X, Ashizawa T. Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. J Neurosci Res. 2006 May 15; 83(7):1170-8. PMID: 16498633.
      Citations: 14     Fields:    Translation:AnimalsCells
    157. Matsuura T, Fang P, Pearson CE, Jayakar P, Ashizawa T, Roa BB, Nelson DL. Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet. 2006 Jan; 78(1):125-9. PMID: 16385455; PMCID: PMC1380209.
      Citations: 39     Fields:    Translation:HumansCells
    158. Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Ahlberg J, Nissbrandt H, Eerola J, Tienari PJ, Matsuura T, Ashizawa T, Klockgether T, Zimprich A, Gasser T, Hanson M, Waseem S, Singleton A, McMahon FJ, Anvret M, Sydow O, Olson L, Holmberg B, Hellstr?m O, W?llner U. A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. Arch Neurol. 2005 Jan; 62(1):74-8. PMID: 15642852.
      Citations: 20     Fields:    Translation:HumansCells
    159. Lin X, Ashizawa T. Recent progress in spinocerebellar ataxia type-10 (SCA10). Cerebellum. 2005; 4(1):37-42. PMID: 15895557.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    160. Sharma R, De Biase I, Delatycki MB, Ashizawa T, Bidichandani SI, G?mez M. Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Ann Neurol. 2004 Dec; 56(6):898-901. PMID: 15562408.
      Citations: 23     Fields:    Translation:HumansCells
    161. Hashem VI, Pytlos MJ, Klysik EA, Tsuji K, Khajavi M, Khajav M, Ashizawa T, Sinden RR. Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients. Nucleic Acids Res. 2004; 32(21):6334-46. PMID: 15576360; PMCID: PMC535684.
      Citations: 20     Fields:    Translation:HumansCells
    162. Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O'Hearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, MacDonald ME, Mysore J, Shimohata T, Tsuji S, Potter N, Nakaso K, Adachi Y, Nakashima K, Bird T, Krause A, Greenstein P. Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol. 2004 Nov; 56(5):670-4. PMID: 15468075.
      Citations: 24     Fields:    Translation:HumansCells
    163. Thomas M, Ashizawa T, Jankovic J. Minocycline in Huntington's disease: a pilot study. Mov Disord. 2004 Jun; 19(6):692-5. PMID: 15197710.
      Citations: 34     Fields:    Translation:HumansCTClinical Trials
    164. Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LP. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet. 2004 Jul; 75(1):3-16. PMID: 15152344; PMCID: PMC1182005.
      Citations: 27     Fields:    Translation:HumansCells
    165. 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
    166. Michielotto C, Matsuura T, Ashizawa T, Margolis RL, Holmes SE, Gellera C, Migone N, Brusco A, Cagnoli C. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J Mol Diagn. 2004 May; 6(2):96-100. PMID: 15096564; PMCID: PMC1867469.
      Citations: 21     Fields:    Translation:HumansCells
    167. Mankodi A, Ashizawa T. Echo of silence: silent mutations, RNA splicing, and neuromuscular diseases. Neurology. 2003 Nov 25; 61(10):1330-1. PMID: 14638949.
      Citations: 3     Fields:    Translation:HumansCells
    168. Ashizawa T. [Recent changes in the neurology residency program in the United States]. Rinsho Shinkeigaku. 2003 Nov; 43(11):854-6. PMID: 15152484.
      Citations:    Fields:    
    169. Higgins JJ, Jankovic J, Lombardi RQ, Pucilowska J, Tan EK, Ashizawa T, Ruszczyk MU. Haplotype analysis of the ETM2 locus in familial essential tremor. Neurogenetics. 2003 Aug; 4(4):185-9. PMID: 12761658.
      Citations: 6     Fields:    Translation:HumansCells
    170. Rosa AL, Jankovic J, Ashizawa T. Screening for mutations in the MECP2 (Rett syndrome) gene in Gilles de la Tourette syndrome. Arch Neurol. 2003 Apr; 60(4):502-3. PMID: 12707062.
      Citations:    Fields:    Translation:Humans
    171. Potaman VN, Bissler JJ, Hashem VI, Oussatcheva EA, Lu L, Shlyakhtenko LS, Lyubchenko YL, Matsuura T, Ashizawa T, Leffak M, Benham CJ, Sinden RR. Unpaired structures in SCA10 (ATTCT)n.(AGAAT)n repeats. J Mol Biol. 2003 Feb 28; 326(4):1095-111. PMID: 12589756.
      Citations: 47     Fields:    Translation:HumansCells
    172. Sharma R, Bhatti S, Gomez M, Clark RM, Murray C, Ashizawa T, Bidichandani SI. The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum Mol Genet. 2002 Sep 01; 11(18):2175-87. PMID: 12189170.
      Citations: 34     Fields:    Translation:HumansCells
    173. Grewal RP, Achari M, Matsuura T, Durazo A, Tayag E, Zu L, Pulst SM, Ashizawa T. Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. Arch Neurol. 2002 Aug; 59(8):1285-90. PMID: 12164725.
      Citations: 28     Fields:    Translation:HumansCells
    174. Oshima M, Deitiker P, Ashizawa T, Atassi MZ. Vaccination with a MHC class II peptide attenuates cellular and humoral responses against tAChR and suppresses clinical EAMG. Autoimmunity. 2002 May; 35(3):183-90. PMID: 12389643.
      Citations: 1     Fields:    Translation:AnimalsCellsPHPublic Health
    175. Fujigasaki H, Tardieu S, Stevanin G, LeGuern E, Matsuura T, Ashizawa T, Brice A, Camuzat A, D?rr A. Spinocerebellar ataxia type 10 in the French population. Ann Neurol. 2002 Mar; 51(3):408-9. PMID: 11891842.
      Citations: 8     Fields:    Translation:HumansCells
    176. Nagamitsu S, Ashizawa T. Myotonic dystrophies. Adv Neurol. 2002; 88:293-314. PMID: 11908232.
      Citations: 1     Fields:    Translation:Humans
    177. Matsuura T, Ashizawa T. Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion. Adv Exp Med Biol. 2002; 516:79-97. PMID: 12611436.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
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