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Myotonic Dystrophy
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The Nondystrophic Myotonias
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Primary Brain Tumours in Adults
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Muscular Dystrophies
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Intracranial Neoplasms and Paraneoplastic Disorders
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Diagnosis and New Treatment in Muscle Channelopathies
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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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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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The Tuberous Sclerosis Complex
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Prader-Willi and Angelman Syndromes
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Mitochondrial DNA and Disease
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Hereditary Hemorrhagic Telangiectasia
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Wilson Disease
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Clinicopath Conf
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Causal Heterogeneity in Isolated Lissencephaly
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
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The Triumph of Linkage Analysis, Editorial
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