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Showing articles 0 to 13 of 13 Filter Applied: genetic testing (Click to remove) Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis Neurol 51:865-867, Chen,W.,et al, 1998 A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023 A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency Neurol 100:206-212, Stamm,B.,et al, 2023 A 48-Year-Old Man With Spasticity and Progressive Ataxia Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023 Spinal Muscular Atrophy UpToDate, Oct, Bodamer,O.A., 2022 A 28-Year-Old Woman with Vision Loss and an Unusual Gait Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021 A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness Neurol 94:994-999, Wildman, J.,et al, 2020 Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019 Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture Neurol 90:e172-e176, Roy, B. & Raynor, E., 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 Huntington Disease: Clinical Features and Diagnosis UptoDate Dec 2017, Oksana Suchowersky, 2017 Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996 Showing articles 0 to 13 of 13