| Year |
Citation |
Score |
| 2022 |
Kurosaki T, Ashizawa T. The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10. Frontiers in Genetics. 13: 936869. PMID 36199580 DOI: 10.3389/fgene.2022.936869 |
0.342 |
|
| 2022 |
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, et al. ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10. Hgg Advances. 3: 100137. PMID 36092952 DOI: 10.1016/j.xhgg.2022.100137 |
0.306 |
|
| 2020 |
Lin CC, Ashizawa T, Kuo SH. Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA. Frontiers in Neurology. 11: 902. PMID 32982927 DOI: 10.3389/Fneur.2020.00902 |
0.331 |
|
| 2020 |
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, ... ... Ashizawa T, et al. Biallelic intronic AAGGG expansion of RFC1 is related to multiple system atrophy. Annals of Neurology. PMID 32939785 DOI: 10.1002/Ana.25902 |
0.366 |
|
| 2020 |
Zhang L, Ashizawa T, Peng D. Primary coenzyme Q10 deficiency due to COQ8A gene mutations. Molecular Genetics & Genomic Medicine. e1420. PMID 32743982 DOI: 10.1002/Mgg3.1420 |
0.383 |
|
| 2020 |
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, ... ... Ashizawa T, et al. Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6. Journal of the Neurological Sciences. 415: 116878. PMID 32454319 DOI: 10.1016/J.Jns.2020.116878 |
0.332 |
|
| 2020 |
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. 15: e0231000. PMID 32287265 DOI: 10.1371/Journal.Pone.0231000 |
0.329 |
|
| 2020 |
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. Proceedings of the National Academy of Sciences of the United States of America. PMID 32205441 DOI: 10.1073/Pnas.1917280117 |
0.334 |
|
| 2020 |
Arruda WO, Meira AT, Ono SE, de Carvalho Neto A, Ferreira MG, Raskin S, Ferreira Camargo CH, Ashizawa T, Ghizoni Teive HA. Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. Parkinsonism & Related Disorders. PMID 32199743 DOI: 10.1016/J.Parkreldis.2020.03.007 |
0.301 |
|
| 2020 |
Hashem V, Tiwari A, Bewick B, Teive HAG, Moscovich M, Schüele B, Bushara K, Bower M, Rasmussen A, Tsai YC, Clark T, McFarland K, Ashizawa T. Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10. Plos One. 15: e0228789. PMID 32160188 DOI: 10.1371/Journal.Pone.0228789 |
0.325 |
|
| 2020 |
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, ... ... Ashizawa T, et al. The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. Parkinsonism & Related Disorders. 72: 37-43. PMID 32105964 DOI: 10.1016/J.Parkreldis.2020.02.004 |
0.348 |
|
| 2020 |
Rodríguez-Labrada R, Martins AC, Magaña JJ, Vazquez-Mojena Y, Medrano-Montero J, Fernandez-Ruíz J, Cisneros B, Teive H, McFarland KN, Saraiva-Pereira ML, Cerecedo-Zapata CM, Gomez CM, Ashizawa T, Velázquez-Pérez L, Jardim LB, et al. Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean. Cerebellum (London, England). PMID 32086717 DOI: 10.1007/S12311-020-01109-7 |
0.336 |
|
| 2019 |
Domingues BMD, Nascimento FA, Meira AT, Moro A, Raskin S, Ashizawa T, Teive HAG. Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families. Cerebellum (London, England). PMID 31377949 DOI: 10.1007/S12311-019-01064-Y |
0.391 |
|
| 2019 |
Nascimento FA, Rodrigues VOR, Pelloso FC, Camargo CHF, Moro A, Raskin S, Ashizawa T, Teive HAG. Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families. Clinical Neurology and Neurosurgery. 184: 105427. PMID 31323545 DOI: 10.1016/J.Clineuro.2019.105427 |
0.367 |
|
| 2019 |
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, ... ... Ashizawa T, et al. Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. Cerebellum (London, England). PMID 30830673 DOI: 10.1007/S12311-019-01016-6 |
0.375 |
|
| 2019 |
Fabiani G, Martins R, Ashizawa T, Germiniani FMB, Teive HAG. Tc-TRODAT-1 SPECT Showing Dopaminergic Deficiency in a Patient with Spinocerebellar Ataxia Type 10 and Parkinsonism. Movement Disorders Clinical Practice. 6: 85-87. PMID 30746424 DOI: 10.1002/Mdc3.12700 |
0.328 |
|
| 2018 |
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, et al. Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease. Neurobiology of Aging. PMID 30554804 DOI: 10.1016/J.Neurobiolaging.2018.11.002 |
0.317 |
|
| 2018 |
Xia G, Terada N, Ashizawa T. Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies. Current Stem Cell Reports. 4: 299-309. PMID 30524939 DOI: 10.1007/S40778-018-0145-5 |
0.327 |
|
| 2018 |
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. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 30274788 DOI: 10.1016/J.Ymthe.2018.09.003 |
0.316 |
|
| 2018 |
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. The Embo Journal. PMID 30206144 DOI: 10.15252/Embj.201899023 |
0.317 |
|
| 2018 |
Ashizawa T, Öz G, Paulson HL. Spinocerebellar ataxias: prospects and challenges for therapy development. Nature Reviews. Neurology. PMID 30131520 DOI: 10.1038/S41582-018-0051-6 |
0.342 |
|
| 2018 |
Sznajder ŁJ, 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. Proceedings of the National Academy of Sciences of the United States of America. PMID 29610297 DOI: 10.1073/Pnas.1716617115 |
0.353 |
|
| 2017 |
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, ... ... Ashizawa T, et al. Dystonia and ataxia progression in spinocerebellar ataxias. Parkinsonism & Related Disorders. PMID 29089256 DOI: 10.1016/J.Parkreldis.2017.10.007 |
0.329 |
|
| 2017 |
Moro A, Munhoz RP, Moscovich M, Arruda WO, Raskin S, Silveira-Moriyama L, Ashizawa T, Teive HAG. Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10. Cerebellum (London, England). PMID 28589261 DOI: 10.1007/S12311-017-0869-2 |
0.305 |
|
| 2017 |
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. 12: e0175958. PMID 28423040 DOI: 10.1371/Journal.Pone.0175958 |
0.429 |
|
| 2017 |
Spina Tensini F, Sato MT, Shiokawa N, Ashizawa T, Teive HA. A Comparative Optical Coherence Tomography Study of Spinocerebellar Ataxia Types 3 and 10. Cerebellum (London, England). PMID 28401494 DOI: 10.1007/S12311-017-0856-7 |
0.325 |
|
| 2017 |
Zhang N, Ashizawa T. RNA toxicity and foci formation in microsatellite expansion diseases. Current Opinion in Genetics & Development. 44: 17-29. PMID 28208060 DOI: 10.1016/J.Gde.2017.01.005 |
0.31 |
|
| 2016 |
Paap BK, Roeske S, Durr A, Schöls L, Ashizawa T, Boesch S, Bunn LM, Delatycki MB, Giunti P, Lehéricy S, Mariotti C, Melegh J, Pandolfo M, Tallaksen CME, Timmann D, et al. Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies. Movement Disorders Clinical Practice. 3: 230-240. PMID 30363623 DOI: 10.1002/Mdc3.12315 |
0.328 |
|
| 2016 |
Luo L, Wang J, Lo RY, Figueroa KP, Pulst SM, Kuo PH, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, ... ... Ashizawa T, et al. The Initial Symptom and Motor Progression in Spinocerebellar Ataxias. Cerebellum (London, England). PMID 27848087 DOI: 10.1007/S12311-016-0836-3 |
0.34 |
|
| 2016 |
Zhang L, McFarland KN, Subramony SH, Heilman KM, Ashizawa T. SPG7 and Impaired Emotional Communication. Cerebellum (London, England). PMID 27557734 DOI: 10.1007/S12311-016-0818-5 |
0.36 |
|
| 2016 |
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 SCA2 and ALS. Annals of Neurology. PMID 27531668 DOI: 10.1002/Ana.24761 |
0.365 |
|
| 2016 |
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, ... ... Ashizawa T, et al. (CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China. Brain : a Journal of Neurology. PMID 27085188 DOI: 10.1093/Brain/Aww087 |
0.384 |
|
| 2016 |
Jen JC, Ashizawa T, Griggs RC, Waters MF. Rare neurological channelopathies - networks to study patients, pathogenesis and treatment. Nature Reviews. Neurology. PMID 26943780 DOI: 10.1038/Nrneurol.2016.18 |
0.318 |
|
| 2015 |
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. Neurology. Genetics. 1: e26. PMID 27066563 DOI: 10.1212/Nxg.0000000000000026 |
0.427 |
|
| 2015 |
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. 10: e0135906. PMID 26295943 DOI: 10.1371/Journal.Pone.0135906 |
0.322 |
|
| 2015 |
Teive HA, Moro A, Moscovich M, Arruda WO, Munhoz RP, Raskin S, Teive GM, Dallabrida N, Ashizawa T. Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection. Arquivos De Neuro-Psiquiatria. 73: 725-7. PMID 26222367 DOI: 10.1590/0004-282X20150086 |
0.371 |
|
| 2015 |
Teive HA, Ashizawa T. Primary and secondary ataxias. Current Opinion in Neurology. 28: 413-22. PMID 26132530 DOI: 10.1097/Wco.0000000000000227 |
0.305 |
|
| 2015 |
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. 10: e0130336. PMID 26083476 DOI: 10.1371/Journal.Pone.0130336 |
0.413 |
|
| 2015 |
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 (London, England). PMID 25869927 DOI: 10.1007/S12311-015-0667-7 |
0.369 |
|
| 2015 |
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. 10: e0117488. PMID 25689313 DOI: 10.1371/Journal.Pone.0117488 |
0.352 |
|
| 2015 |
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, et al. The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis. Plos Genetics. 11: e1004749. PMID 25633985 DOI: 10.1371/Journal.Pgen.1004749 |
0.347 |
|
| 2015 |
Baizabal-Carvallo JF, Xia G, Botros P, Laguna J, Ashizawa T, Jankovic J. Bolivian kindred with combined spinocerebellar ataxia types 2 and 10. Acta Neurologica Scandinavica. 132: 139-42. PMID 25630585 DOI: 10.1111/Ane.12371 |
0.382 |
|
| 2015 |
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 Genetics. 11: e1004834. PMID 25590633 DOI: 10.1371/Journal.Pgen.1004834 |
0.328 |
|
| 2014 |
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, ... ... Ashizawa T, et al. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain : a Journal of Neurology. 137: 2444-55. PMID 24972706 DOI: 10.1093/Brain/Awu174 |
0.382 |
|
| 2014 |
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. Journal of Neurology. 261: 1691-4. PMID 24935856 DOI: 10.1007/S00415-014-7394-8 |
0.431 |
|
| 2014 |
Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Bassez G, Eymard B, Gamez J, Ashizawa T, Mendell JR, et al. Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. Neuromuscular Disorders : Nmd. 24: 227-40. PMID 24332166 DOI: 10.1016/J.Nmd.2013.11.001 |
0.306 |
|
| 2014 |
McFarland KN, Liu J, Landrian I, Zeng D, Raskin S, Moscovich M, Gatto EM, Ochoa A, Teive HA, Rasmussen A, Ashizawa T. Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics. 15: 59-64. PMID 24318420 DOI: 10.1007/S10048-013-0385-6 |
0.401 |
|
| 2014 |
Matilla-Dueñas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, et al. Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (London, England). 13: 269-302. PMID 24307138 DOI: 10.1007/S12311-013-0539-Y |
0.319 |
|
| 2014 |
Liu J, McFarland KN, Landrian I, Wu SS, Bower M, Hutter D, Bushara K, Teive HAG, Ashizawa T. Identifying novel interruption motifs in spinocerebellar ataxia type 10 expansions Neurology and Clinical Neuroscience. 2: 38-43. DOI: 10.1111/Ncn3.78 |
0.342 |
|
| 2013 |
Bushara K, Bower M, Liu J, McFarland KN, Landrian I, Hutter D, Teive HA, Rasmussen A, Mulligan CJ, Ashizawa T. Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry. Plos One. 8: e81342. PMID 24278426 DOI: 10.1371/Journal.Pone.0081342 |
0.439 |
|
| 2013 |
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, et al. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet Journal of Rare Diseases. 8: 177. PMID 24225362 DOI: 10.1186/1750-1172-8-177 |
0.363 |
|
| 2013 |
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. 8: e76749. PMID 24116147 DOI: 10.1371/Journal.Pone.0076749 |
0.306 |
|
| 2013 |
Teive HA, Ashizawa T. Spinocerebellar ataxia type 10: from Amerindians to Latin Americans. Current Neurology and Neuroscience Reports. 13: 393. PMID 24027006 DOI: 10.1007/S11910-013-0393-9 |
0.374 |
|
| 2013 |
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 (London, England). 12: 932-6. PMID 23912307 DOI: 10.1007/S12311-013-0507-6 |
0.413 |
|
| 2013 |
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. Journal of Neurology, Neurosurgery, and Psychiatry. 84: 1409-11. PMID 23813740 DOI: 10.1136/Jnnp-2013-305080 |
0.392 |
|
| 2013 |
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. Journal of Neurology. 260: 2497-504. PMID 23807151 DOI: 10.1007/S00415-013-6993-0 |
0.327 |
|
| 2013 |
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, et al. Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. Neurobiology of Aging. 34: 2442.e11-7. PMID 23726790 DOI: 10.1016/J.Neurobiolaging.2013.04.029 |
0.336 |
|
| 2013 |
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, ... ... Ashizawa T, et al. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics. 14: 173-9. PMID 23644918 DOI: 10.1007/S10048-013-0364-Y |
0.337 |
|
| 2013 |
McFarland KN, Liu J, Landrian I, Gao R, Sarkar PS, Raskin S, Moscovich M, Gatto EM, Teive HA, Ochoa A, Rasmussen A, Ashizawa T. Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. European Journal of Human Genetics : Ejhg. 21: 1272-6. PMID 23443018 DOI: 10.1038/Ejhg.2013.32 |
0.384 |
|
| 2013 |
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. Arquivos De Neuro-Psiquiatria. 71: 66. PMID 23338165 DOI: 10.1590/S0004-282X2013000100015 |
0.409 |
|
| 2012 |
McFarland KN, Ashizawa T. Transgenic models of spinocerebellar ataxia type 10: modeling a repeat expansion disorder. Genes. 3: 481-91. PMID 24533179 DOI: 10.3390/Genes3030481 |
0.402 |
|
| 2012 |
Waters MF, Subramony SH, Advincula J, Perlman S, Ashizawa T. Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H). Neurology. 79: 1181-2. PMID 22933745 DOI: 10.1212/Wnl.0B013E3182698D5C |
0.341 |
|
| 2012 |
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, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports. 1: 2-12. PMID 22832103 DOI: 10.1016/J.Celrep.2011.11.001 |
0.346 |
|
| 2012 |
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, ... ... Ashizawa T, et al. Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset. Human Genetics. 131: 1833-40. PMID 22825315 DOI: 10.1007/S00439-012-1205-Z |
0.347 |
|
| 2012 |
Moscovich M, Munhoz RP, Teive HA, Raskin S, Carvalho Mde J, Barbosa ER, Ranvaud R, Liu J, McFarland K, Ashizawa T, Lees AJ, Silveira-Moriyama L. Olfactory impairment in familial ataxias. Journal of Neurology, Neurosurgery, and Psychiatry. 83: 970-4. PMID 22791905 DOI: 10.1136/Jnnp-2012-302770 |
0.334 |
|
| 2012 |
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, ... ... Ashizawa T, et al. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochemical and Biophysical Research Communications. 424: 404-8. PMID 22771793 DOI: 10.1016/J.Bbrc.2012.06.120 |
0.372 |
|
| 2012 |
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, et al. Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants. Journal of Child Neurology. 27: 1152-8. PMID 22752494 DOI: 10.1177/0883073812448462 |
0.313 |
|
| 2012 |
Ashizawa T, Ranum LP. GGCCTG repeats put a hex on Purkinje cells and motor neurons in SCA36. Neurology. 79: 302-3. PMID 22744663 DOI: 10.1212/Wnl.0B013E31826043D9 |
0.35 |
|
| 2012 |
Teive HA, Munhoz RP, Arruda WO, Lopes-Cendes I, Raskin S, Werneck LC, Ashizawa T. Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families. Clinics (SãO Paulo, Brazil). 67: 443-9. PMID 22666787 DOI: 10.6061/Clinics/2012(05)07 |
0.386 |
|
| 2012 |
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. Human Molecular Genetics. 21: 3558-67. PMID 22595968 DOI: 10.1093/Hmg/Dds185 |
0.416 |
|
| 2012 |
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, ... ... Ashizawa T, et al. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. American Journal of Human Genetics. 90: 434-44. PMID 22387017 DOI: 10.1016/J.Ajhg.2012.01.005 |
0.38 |
|
| 2012 |
Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, ... ... Ashizawa T, et al. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 78: 690-5. PMID 22323755 DOI: 10.1212/Wnl.0B013E318249F683 |
0.35 |
|
| 2012 |
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. Journal of Neuroscience Research. 90: 706-14. PMID 22065565 DOI: 10.1002/Jnr.22786 |
0.769 |
|
| 2012 |
Subramony SH, Kedar S, Murray E, Protas E, Xu H, Ashizawa T, Tan A. Objective home-based gait assessment in spinocerebellar ataxia. Journal of the Neurological Sciences. 313: 95-8. PMID 22018764 DOI: 10.1016/J.Jns.2011.09.016 |
0.324 |
|
| 2012 |
Ashizawa T. Spinocerebellar ataxia type 10. Handbook of Clinical Neurology. 103: 507-19. PMID 21827910 DOI: 10.1016/B978-0-444-51892-7.00032-2 |
0.394 |
|
| 2011 |
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. 44: 499-502. PMID 21755517 DOI: 10.1002/Mus.22117 |
0.364 |
|
| 2011 |
Teive HA, Munhoz RP, Arruda WO, Raskin S, Werneck LC, Ashizawa T. Spinocerebellar ataxia type 10 - A review. Parkinsonism & Related Disorders. 17: 655-61. PMID 21531163 DOI: 10.1016/J.Parkreldis.2011.04.001 |
0.405 |
|
| 2011 |
Ashizawa T, Sarkar PS. Myotonic dystrophy types 1 and 2. Handbook of Clinical Neurology. 101: 193-237. PMID 21496635 DOI: 10.1016/B978-0-08-045031-5.00015-3 |
0.357 |
|
| 2011 |
Teive HA, Munhoz RP, Ashizawa T. New gene of spinocerebellar ataxia. Brain : a Journal of Neurology. 134: e179. PMID 21357611 DOI: 10.1093/Brain/Awr017 |
0.306 |
|
| 2011 |
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. Proceedings of the National Academy of Sciences of the United States of America. 108: 2843-8. PMID 21282659 DOI: 10.1073/Pnas.1009409108 |
0.362 |
|
| 2011 |
Teive HAG, Arruda WO, Raskin S, Munhoz RP, Zavala JA, Werneck LC, Ashizawa T. Symptom onset of spinocerebellar ataxia type 10 in pregnancy and puerperium. Journal of Clinical Neuroscience. 18: 437-438. PMID 21236683 DOI: 10.1016/J.Jocn.2010.07.102 |
0.368 |
|
| 2010 |
Teive HA, Munhoz RP, Raskin S, Arruda WO, de Paola L, Werneck LC, Ashizawa T. Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 2875-8. PMID 20818609 DOI: 10.1002/Mds.23324 |
0.383 |
|
| 2010 |
White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, Wakamiya M, Edwards SF, Raskin S, Teive HA, Zoghbi HY, Sarkar PS, Ashizawa T. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. Plos Genetics. 6: e1000984. PMID 20548952 DOI: 10.1371/Journal.Pgen.1000984 |
0.751 |
|
| 2010 |
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. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 426-32. PMID 20063431 DOI: 10.1002/Mds.22912 |
0.304 |
|
| 2010 |
Couto JM, Braida C, Morales F, Adam B, Cuenca P, Valle Gd, Brian R, Sittenfeld M, Ashizawa T, Monckton DG. P19 An extremely high rate of de novo base substitution mutations causes interruptions at the myotonic dystrophy type 1 locus Neuromuscular Disorders. 20. DOI: 10.1016/S0960-8966(10)70034-1 |
0.313 |
|
| 2009 |
Schoser B, Ashizawa T. How much expansion to be diseased?: toward repeat size and myotonic dystrophy type 2. Neurology. 72: 484-5. PMID 19204257 DOI: 10.1212/01.Wnl.0000341937.70150.64 |
0.41 |
|
| 2008 |
Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T. Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. Revista De Biología Tropical. 56: 1-11. PMID 18624224 DOI: 10.15517/Rbt.V56I1.5505 |
0.394 |
|
| 2008 |
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. Journal of the Neurological Sciences. 272: 123-8. PMID 18571673 DOI: 10.1016/J.Jns.2008.05.009 |
0.308 |
|
| 2008 |
Gao R, Matsuura T, Coolbaugh M, Zühlke C, Nakamura K, Rasmussen A, Siciliano MJ, Ashizawa T, Lin X. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. European Journal of Human Genetics : Ejhg. 16: 215-22. PMID 18043721 DOI: 10.1038/Sj.Ejhg.5201954 |
0.436 |
|
| 2007 |
Teive HA, Arruda WO, Raskin S, Ashizawa T, Werneck LC. The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene. Arquivos De Neuro-Psiquiatria. 65: 965-8. PMID 18094855 DOI: 10.1590/S0004-282X2007000600008 |
0.361 |
|
| 2007 |
Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T. Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive. Human Genetics. 122: 413. PMID 17717708 DOI: 10.1007/S00439-007-0411-6 |
0.347 |
|
| 2007 |
Gatto EM, Gao R, White MC, Uribe Roca MC, Etcheverry JL, Persi G, Poderoso JJ, Ashizawa T. Ethnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 family. Neurology. 69: 216-8. PMID 17620556 DOI: 10.1212/01.Wnl.0000265596.72492.89 |
0.779 |
|
| 2007 |
Rasmussen A, De Biase I, Fragoso-Benítez M, Macías-Flores MA, Yescas P, Ochoa A, Ashizawa T, Alonso ME, Bidichandani SI. Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Annals of Neurology. 61: 607-10. PMID 17474109 DOI: 10.1002/Ana.21139 |
0.405 |
|
| 2007 |
Alonso E, MartÃnez-Ruano L, De Biase I, Mader C, Ochoa A, Yescas P, Gutiérrez R, White M, Ruano L, Fragoso-BenÃtez M, Ashizawa T, Bidichandani SI, Rasmussen A. Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Movement Disorders : Official Journal of the Movement Disorder Society. 22: 1050-3. PMID 17427938 DOI: 10.1002/Mds.21470 |
0.778 |
|
| 2007 |
Raskin S, Ashizawa T, Teive HA, Arruda WO, Fang P, Gao R, White MC, Werneck LC, Roa B. Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10. Archives of Neurology. 64: 591-4. PMID 17420323 DOI: 10.1001/Archneur.64.4.591 |
0.787 |
|
| 2006 |
Wakamiya M, Matsuura T, Liu Y, Schuster GC, Gao R, Xu W, Sarkar P, Lin X, Ashizawa T. The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10 Neurology. 67: 607-613. PMID 16924013 DOI: 10.1212/01.Wnl.0000231140.26253.Eb |
0.417 |
|
| 2006 |
Li JL, Hayden MR, Warby SC, Durr A, Morrison PJ, Nance M, Ross CA, Margolis RL, Rosenblatt A, Squitieri F, Frati L, Gómez-Tortosa E, García CA, Suchowersky O, Klimek ML, ... ... Ashizawa T, et al. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. Bmc Medical Genetics. 7: 71. PMID 16914060 DOI: 10.1186/1471-2350-7-71 |
0.339 |
|
| 2006 |
Alonso I, Jardim LB, Artigalas O, Saraiva-Pereira ML, Matsuura T, Ashizawa T, Sequeiros J, Silveira I. Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10 Neurology. 66: 1602-1604. PMID 16717236 DOI: 10.1212/01.Wnl.0000216266.30177.Bb |
0.428 |
|
| 2006 |
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? American Journal of Human Genetics. 78: 125-9. PMID 16385455 DOI: 10.1086/498654 |
0.442 |
|
| 2005 |
Lin X, Ashizawa T. Recent progress in spinocerebellar ataxia type-10 (SCA10). Cerebellum (London, England). 4: 37-42. PMID 15895557 DOI: 10.1080/14734220510007897 |
0.429 |
|
| 2005 |
Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Holmberg B, Ahlberg J, Nissbrandt H, Eerola J, Hellström O, Tienari PJ, Matsuura T, Ashizawa T, Wüllner U, Klockgether T, et al. A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. Archives of Neurology. 62: 74-8. PMID 15642852 DOI: 10.1001/Archneur.62.1.74 |
0.342 |
|
| 2004 |
Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 63: 2280-7. PMID 15623687 DOI: 10.1212/01.Wnl.0000147298.05983.50 |
0.371 |
|
| 2004 |
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 Research. 32: 6334-46. PMID 15576360 DOI: 10.1093/Nar/Gkh976 |
0.406 |
|
| 2004 |
Sharma R, De Biase I, Gómez M, Delatycki MB, Ashizawa T, Bidichandani SI. Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Annals of Neurology. 56: 898-901. PMID 15562408 DOI: 10.1002/Ana.20333 |
0.407 |
|
| 2004 |
Teive HAG, Roa BB, Raskin S, Fang P, Arruda WO, Neto YC, Gao R, Werneck LC, Ashizawa T. Clinical phenotype of Brazilian families with spinocerebellar ataxia 10 Neurology. 63: 1509-1512. PMID 15505178 DOI: 10.1212/01.Wnl.0000142109.62056.57 |
0.445 |
|
| 2004 |
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, et al. Huntington's Disease-like 2 (HDL2) in North America and Japan. Annals of Neurology. 56: 670-4. PMID 15468075 DOI: 10.1002/Ana.20248 |
0.418 |
|
| 2004 |
Thomas M, Ashizawa T, Jankovic J. Minocycline in Huntington's disease: a pilot study. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 692-5. PMID 15197710 DOI: 10.1002/Mds.20018 |
0.318 |
|
| 2004 |
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. American Journal of Human Genetics. 75: 3-16. PMID 15152344 DOI: 10.1086/422014 |
0.428 |
|
| 2004 |
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. American Journal of Human Genetics. 74: 1216-24. PMID 15127363 DOI: 10.1086/421526 |
0.409 |
|
| 2004 |
Cagnoli C, Michielotto C, Matsuura T, Ashizawa T, Margolis RL, Holmes SE, Gellera C, Migone N, Brusco A. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. The Journal of Molecular Diagnostics : Jmd. 6: 96-100. PMID 15096564 DOI: 10.1016/S1525-1578(10)60496-5 |
0.34 |
|
| 2003 |
Mankodi A, Ashizawa T. Echo of silence: silent mutations, RNA splicing, and neuromuscular diseases. Neurology. 61: 1330-1. PMID 14638949 DOI: 10.1212/Wnl.61.10.1330 |
0.316 |
|
| 2003 |
Walker RH, Rasmussen A, Rudnicki D, Holmes SE, Alonso E, Matsuura T, Ashizawa T, Davidoff-Feldman B, Margolis RL. Huntington's disease--like 2 can present as chorea-acanthocytosis. Neurology. 61: 1002-4. PMID 14557581 DOI: 10.1212/01.Wnl.0000085866.68470.6D |
0.403 |
|
| 2003 |
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. 4: 185-9. PMID 12761658 DOI: 10.1007/S10048-003-0151-2 |
0.361 |
|
| 2003 |
Rosa AL, Jankovic J, Ashizawa T. Screening for mutations in the MECP2 (Rett syndrome) gene in Gilles de la Tourette syndrome. Archives of Neurology. 60: 502-3. PMID 12707062 DOI: 10.1001/Archneur.60.4.502 |
0.38 |
|
| 2002 |
Matsuura T, Ashizawa T. Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion. Advances in Experimental Medicine and Biology. 516: 79-97. PMID 12611436 DOI: 10.1007/978-1-4615-0117-6_4 |
0.41 |
|
| 2002 |
Abbruzzese C, Costanzi Porrini S, Mariani B, Gould FK, McAbney JP, Monckton DG, Ashizawa T, Giacanelli M. Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1. Annals of Neurology. 52: 435-41. PMID 12325072 DOI: 10.1002/Ana.10304 |
0.397 |
|
| 2002 |
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. Human Molecular Genetics. 11: 2175-87. PMID 12189170 DOI: 10.1093/Hmg/11.18.2175 |
0.378 |
|
| 2002 |
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. Archives of Neurology. 59: 1285-90. PMID 12164725 DOI: 10.1001/Archneur.59.8.1285 |
0.409 |
|
| 2002 |
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. 58: 983-4. PMID 11914424 DOI: 10.1212/Wnl.58.6.983 |
0.446 |
|
| 2002 |
Ashizawa T, Clark HB, Koeppen AH, Pandolfo M, Paulson HL, Pulst S, Richter A, Robitaille Y, Subramony S, Wilson RB. The Hereditary Ataxias The Cerebellum. 1: 143-158. DOI: 10.1007/Bf02941901 |
0.372 |
|
| 2001 |
Rasmussen A, Matsuura T, Ruano L, Yescas P, Ochoa A, Ashizawa T, Alonso E. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Annals of Neurology. 50: 234-239. PMID 11506407 DOI: 10.1002/Ana.1081 |
0.427 |
|
| 2001 |
Khajavi M, Tari AM, Patel NB, Tsuji K, Siwak DR, Meistrich ML, Terry NH, Ashizawa T. "Mitotic drive" of expanded CTG repeats in myotonic dystrophy type 1 (DM1). Human Molecular Genetics. 10: 855-63. PMID 11285251 DOI: 10.1093/Hmg/10.8.855 |
0.32 |
|
| 2001 |
Tan E, Ashizawa T. Genetic testing in spinocerebellar ataxias: defining a clinical role. Jama Neurology. 58: 191-195. PMID 11176956 DOI: 10.1001/Archneur.58.2.191 |
0.324 |
|
| 2000 |
Nagamitsu S, Matsuura T, Khajavi M, Armstrong R, Gooch C, Harati Y, Ashizawa T. A “dystrophic” variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene Neurology. 55: 1697-1703. PMID 11113225 DOI: 10.1212/Wnl.55.11.1697 |
0.382 |
|
| 2000 |
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, ... ... Ashizawa T, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nature Genetics. 26: 191-4. PMID 11017075 DOI: 10.1038/79911 |
0.396 |
|
| 2000 |
Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 55: 224-30. PMID 10908896 DOI: 10.1212/Wnl.55.2.224 |
0.352 |
|
| 2000 |
Ashizawa T, Gonzales I, Ohsawa N, Singer RH, Devillers M, Balasubramanyam A, Cooper TA, Khajavi M, Lia-Baldini AS, Miller G, Philips AV, Timchenko LT, Waring J, Yamagata H, Barbet JP, et al. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1) Neurology. 54: 1218-1221. PMID 10746587 DOI: 10.1212/Wnl.54.6.1218 |
0.376 |
|
| 2000 |
Tan EK, Matsuura T, Nagamitsu S, Khajavi M, Jankovic J, Ashizawa T. Polymorphism of NACP-Rep1 in Parkinson’s disease: An etiologic link with essential tremor? Neurology. 54: 1195-1198. PMID 10720300 DOI: 10.1212/Wnl.54.5.1195 |
0.304 |
|
| 2000 |
Costanzi-Porrini S, Tessarolo D, Abbruzzese C, Liguori M, Ashizawa T, Giacanelli M. An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia Neurology. 54: 491-491. PMID 10668721 DOI: 10.1212/Wnl.54.2.491 |
0.389 |
|
| 2000 |
Burgess DL, Matsuura T, Ashizawa T, Noebels JL. Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13. Epilepsia. 41: 24-7. PMID 10643919 DOI: 10.1111/J.1528-1157.2000.Tb01500.X |
0.343 |
|
| 2000 |
Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, Harati Y, Gibbs RA, Ashizawa T, Patel PI. Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence. Human Molecular Genetics. 8: 2425-36. PMID 10556290 DOI: 10.1093/Hmg/8.13.2425 |
0.381 |
|
| 1999 |
Monckton DG, Cayuela ML, Gould FK, Brock GJR, Silva Rd, Ashizawa T. Very Large (CAG)n DNA Repeat Expansions in the Sperm of Two Spinocerebellar Ataxia Type 7 Males Human Molecular Genetics. 8: 2473-2478. PMID 10556295 DOI: 10.1093/Hmg/8.13.2473 |
0.407 |
|
| 1999 |
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. Annals of Neurology. 45: 407-11. PMID 10072060 DOI: 10.1002/1531-8249(199903)45:3<407::Aid-Ana21>3.0.Co;2-D |
0.391 |
|
| 1999 |
Thornton CA, Ashizawa T. Getting a grip on the myotonic dystrophies Neurology. 52: 12-12. PMID 9921841 DOI: 10.1212/Wnl.52.1.12 |
0.412 |
|
| 1998 |
Wang WW, Khajavi M, Patel BJ, Beach J, Jankovic J, Ashizawa T. The G209A Mutation in the α-Synuclein Gene Is Not Detected in Familial Cases of Parkinson Disease in Non-Greek and/or Italian Populations Jama Neurology. 55: 1521-1523. PMID 9865795 DOI: 10.1001/Archneur.55.12.1521 |
0.322 |
|
| 1998 |
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. 51: 1081-6. PMID 9781533 DOI: 10.1212/Wnl.51.4.1081 |
0.376 |
|
| 1998 |
Bidichandani SI, Ashizawa T, Patel PI. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. American Journal of Human Genetics. 62: 111-21. PMID 9443873 DOI: 10.1086/301680 |
0.368 |
|
| 1998 |
Chance PF, Ashizawa T, Hoffman EP, Crawford TO. Molecular Basis of Neuromuscular Disease Physical Medicine and Rehabilitation Clinics of North America. 9: 49-81. DOI: 10.1016/S1047-9651(18)30280-8 |
0.375 |
|
| 1997 |
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. Nature Genetics. 15: 62-9. PMID 8988170 DOI: 10.1038/Ng0197-62 |
0.307 |
|
| 1996 |
Alford RL, Ashizawa T, Jankovic J, Caskey CT, Richards CS. Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease. American Journal of Medical Genetics. 66: 281-6. PMID 8985488 DOI: 10.1002/(Sici)1096-8628(19961218)66:3<281::Aid-Ajmg9>3.0.Co;2-S |
0.412 |
|
| 1996 |
Abbruzzese C, Krahe R, Liguori M, Tessarolo D, Siciliano MJ, Ashizawa T, Giacanelli M. Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)? Journal of Neurology. 243: 715-21. PMID 8923304 DOI: 10.1007/Bf00873977 |
0.418 |
|
| 1996 |
Ashizawa T, Monckton DG, Vaishnav S, Patel BJ, Voskova A, Caskey CT. Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy. Genomics. 36: 47-53. PMID 8812415 DOI: 10.1006/Geno.1996.0424 |
0.376 |
|
| 1996 |
Petronis A, Heng HH, Tatuch Y, Shi XM, Klempan TA, Tsui LC, Ashizawa T, Surh LC, Holden JJ, Kennedy JL. Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques. American Journal of Medical Genetics. 67: 85-91. PMID 8678121 DOI: 10.1002/(Sici)1096-8628(19960216)67:1<85::Aid-Ajmg15>3.0.Co;2-L |
0.323 |
|
| 1995 |
Jankovic J, Ashizawa T. Tourettism associated with Huntington's disease Movement Disorders. 10: 103-105. PMID 7885343 DOI: 10.1002/Mds.870100116 |
0.387 |
|
| 1995 |
Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage VL, Siciliano MJ. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics. 28: 1-14. PMID 7590731 DOI: 10.1006/Geno.1995.1099 |
0.35 |
|
| 1995 |
Jankovic J, Beach J, Ashizawa T. Emotional and functional impact of DNA testing on patients with symptoms of Huntington's disease. Journal of Medical Genetics. 32: 516-518. PMID 7562962 DOI: 10.1136/Jmg.32.7.516 |
0.339 |
|
| 1994 |
Ashizawa T, Wong LJ, Richards CS, Caskey CT, Jankovic J. CAG repeat size and clinical presentation in Huntington's disease. Neurology. 44: 1137-43. PMID 8208412 DOI: 10.1212/Wnl.44.6.1137 |
0.445 |
|
| 1993 |
Ashizawa T, Dubel JR, Harati Y. Somatic instability of CTG repeat in myotonic dystrophy Neurology. 43: 2674-2674. PMID 8255475 DOI: 10.1212/Wnl.43.12.2674 |
0.353 |
|
| 1992 |
Rolak LA, Rutecki P, Ashizawa T, Harati Y. Clinical features of Todd's post-epileptic paralysis Journal of Neurology Neurosurgery and Psychiatry. 55: 63-64. PMID 1548500 DOI: 10.1136/Jnnp.55.1.63 |
0.322 |
|
| 1992 |
Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science (New York, N.Y.). 255: 1256-8. PMID 1546326 DOI: 10.1126/Science.1546326 |
0.366 |
|
| 1992 |
Dubel JR, Armstrong RM, Perryman MB, Epstein HF, Ashizawa T. Phenotypic expression of the myotonic dystrophy gene in monozygotic twins. Neurology. 42: 1815-7. PMID 1513473 DOI: 10.1212/Wnl.42.9.1815 |
0.322 |
|
| 1992 |
Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Fu YH, Pizzuti A, Caskey CT, Boerwinkle E, Perryman MB, Epstein HF. Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology. 42: 1877-83. PMID 1407566 DOI: 10.1212/Wnl.42.10.1877 |
0.307 |
|
| 1992 |
Ashizawa T, Hejtmancik JF, Liu J, Perryman MB, Epstein HF, Koch DD. Diagnostic value of ophthalmologic findings in myotonic dystrophy: comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms. American Journal of Medical Genetics. 42: 55-60. PMID 1364051 DOI: 10.1002/Ajmg.1320420113 |
0.302 |
|
| Show low-probability matches. |