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Tuberous Sclerosis
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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Intracranial Neoplasms and Paraneoplastic Disorders
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Neurofibromatosis Type 2
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Whipples Disease
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
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Practice Parameter: Evaluation of the Child with Global Developmental Delay
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Clinical and Genetic Aspects of Distal Myopathies
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What Level of Care for the Neurofibromatoses?
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Molecular Basis of the Neurodegenerative Disorders
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Investigation of Muscle Disease
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease
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The Prevention of Neurogenetic Disease
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Advances in Molecular Analysis of Fragile X Syndrome
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The Neurogenetic Genie:Testing for Huntington's Disease Mutation
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CAG Repeat Size and Clinical Presentation in Huntington's Disease
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Trinucleotide Repeat Expansion in Neurological Disease
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