A 10-year-old boy with Bilateral Vision Loss
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Neurological Management of Von Hippel-Lindau Disease
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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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The Tuberous Sclerosis Complex
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Sensorineural Hearing Loss in Children
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Adrenoleukodystrophy
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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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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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Clinical Genetics in Neurological Disease
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Experience with Screening Newborns for Duchenne Muscular Dystrophy in Wales
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Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
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Causal Heterogeneity in Isolated Lissencephaly
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A Clinical Study of Noonan Syndrome
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Gene Studies in Newborn Males with Duchenne Muscular Dystrophy Detected by Neonatal Screening
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