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Molybdenum Cofactor Deficiency
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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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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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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The Prevention of Neurogenetic Disease
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Genetic Diagnosis of Gaucher's Disease
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The Psychological Consequences of Predictive Testing for Huntington's Disease
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A Clinical Study of Noonan Syndrome
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Genetic Testing for Huntington's Disease
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Predictive Testing for Huntington's Disease, Progress and Problems
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Presymptomatic Testing for Huntington's Disease
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