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Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020

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

Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991

Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018

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

Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
Arch Neurol 57:520-524, Verrips,A.,et al, 2000

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972



Showing articles 0 to 10 of 10