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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Molybdenum Cofactor Deficiency
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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