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Showing articles 0 to 15 of 15 Filter Applied: consanguinity (Click to remove) Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023 Complex Ataxia Neurol 95:136-141, Abkur, T.,et al, 2020 Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss Neurol 90:e625-e631, Set, K.K.,et al, 2018 A Child with Arthrogryposis Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018 FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018 A Young Woman with Rapid Mental Deterioration and Leukoencephalopathy Neurol 83:e182-e186, Biotti, D.,et al, 2014 Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy Brain 134:3326-3332, Garone, C.,et al, 2011 Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009 Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades Medicine 86:112-121, Taly,A.B., et al, 2007 Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996 Hallervorden-Spatz Syndrome and Brain Iron Metabolism Arch Neurol 48:1285-1293, Swaiman,K.F., 1991 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 Infantile CNS Spongy Degeneration-14 Cases:Clinical Update Neurol 40:1876-1882, Gascon,G.G.,et al, 1990 Juvenile Myoclonic Epilepsy:An Autosomal Recessive Disease Ann Neurol 25:440-443, Panayiotopoulos,C.P.&Obeid,T., 1989 Genetic Counseling in Retinitis Pigmentosa MCV Quart 8:283, Noah,V., 1972 Showing articles 0 to 15 of 15