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Showing articles 0 to 13 of 13 Filter Applied: gene mutation (Click to remove) Somatic Mutations in Cerebral Cortical Malformations NEJM 371:733-743, Jamuar, S.S.,et al, 2014 Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease NEJM 386;674-687, Case 5-2022, 2022 Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease Neurol 92:101-103, Kang, M.J.,et al, 2019 A 58-year-old man with Progressive Ptosis and Walking Difficulty Neurol 89:e1-e5, Kuo, P.,et al, 2017 Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3 NEJM 377:2376-2385, Case 38-2017, 2017 MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016 A 27-Year Old Man with Rapidly Progressive Coma Neurol 85:e74-e78, Wong,J.M.,et al, 2015 Sturge-Weber Syndrome UptoDate , Nov, Bodensteiner, J.B., 2014 Sturge-Weber Syndrome MedLink Neurology, July, Comi, A.M., 2013 Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy Neurol 79: e70-e72, Zhong, L.,et al, 2012 MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008 A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review The Neurologist 8:302-312, Thambisetty,M.,et al, 2002 Molecular Genetics in Neurology Ann Neurol 34:757-773, Martin,J.B., 1993 Showing articles 0 to 13 of 13