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Showing articles 0 to 10 of 10 Filter Applied: gene mutation (Click to remove) Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis UptoDate 2022 Jan, Darras, B.T., 2022 A 28-Year-Old Woman with Vision Loss and an Unusual Gait Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021 GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019 A Neonate with Micrognathia and Hypotonia Neurol 86:e80-e84, Vawter-Lee, M.M.,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 Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population JAMA 291:460-469, Jacquemont,S.,et al, 2004 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 Molecular Genetics in Neurology Ann Neurol 34:757-773, Martin,J.B., 1993 Showing articles 0 to 10 of 10