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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
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Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Fucosidosis Revisited:A Review of 77 Patients
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Juvenile Myoclonic Epilepsy:An Autosomal Recessive Disease
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Genetic Counseling in Retinitis Pigmentosa
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