Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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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
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
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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