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Showing articles 0 to 13 of 13 Filter Applied: gene mutation (Click to remove) A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency NEJM 375:1879-1890, Case 34-2016, 2016 Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015 Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2 NEJM 370:911-920, Zhou, Q.,et al, 2014 Glycogen-Storage Disease Type II eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006 Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome NEJM 348:33-40, Hayflick,S.J.,et al, 2003 Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene Ann Neurol 41:111-114, Bernardini,G.L.,et al, 1997 Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997 Duchenne Muscular Dystrophy BMJ 368:L7012, Fox, H.,et al, 2020 Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease Lancet 396:990, Kronlage, C.,et al, 2020 A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017 Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017 Showing articles 0 to 13 of 13