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Showing articles 0 to 12 of 12 Filter Applied: gene mutation (Click to remove) A 28-Year-Old Woman with Vision Loss and an Unusual Gait Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021 A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017 Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017 Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA Neurol 86:e58-e59, Sgobbi de Souza, P.V.,et al, 2016 Degenerative Diseases of the Nervous System, Friedreich Ataxia Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014 The Autosomal Recessive Cerebellar Ataxias NEJM 366:636-646, Anheim,M.,et al, 2012 The Clinical and Genetic Spectrum of Spinocerebellar Ataxia 14 Neurol 64:1258-1260, Chen,D-H.,et al, 2005 Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan) Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997 Spinocerebellar Ataxia Type 6, Frequency of the Mutation & Genotype-Phenotype Correl NEurol 49:1247-1251, Geschwind,D.H.,et al, 1997 Broadened Friedreich's Ataxia Phenotype after Gene Cloning, Minimal GAA Expan Causes Late Spastic Ataxia Neurol 49:1617-1620, Ragno,M.,et al, 1997 Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein NEJM 333:1313-1318, 13511995., Gotoda,T.,et al, 1995 Molecular Genetics in Neurology Ann Neurol 34:757-773, Martin,J.B., 1993 Showing articles 0 to 12 of 12