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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Spinal Muscular Atrophy
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Molybdenum Cofactor Deficiency
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Sensorineural Hearing Loss in Children
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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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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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Causal Heterogeneity in Isolated Lissencephaly
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Implications of Diagnostic Delay in Duchenne Muscular Dystrophy
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Recognising & Preventing Duchenne Muscular Dystrophy
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