Mitochondrial DNA Polymerase-y and Human Disease
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Clinical and Genetic Aspects of Distal Myopathies
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Molecular Basis of the Neurodegenerative Disorders
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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The Prevention of Neurogenetic Disease
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Trinucleotide Repeat Expansion in Neurological Disease
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Molecular Genetics in Neurology
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Muscular Dystrophies
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Spinal Muscular Atrophy A Timely Review
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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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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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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The Hereditary Spastic Paraplegias
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
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Hereditary Spastic Paraparesis: A Review of New Developments
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Prader-Willi and Angelman Syndromes
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The Muscular Dystrophies
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Investigation of Muscle Disease
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Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease
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Mitochondrial DNA and Disease
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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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 Length and Rate of Progression of Huntington's Disease
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Myotonic Dystrophy
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Clinical Consequences of Isolating the Gene for Huntington's Disease
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Wilson Disease
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Prevalence and Incidence of Becker Muscular Dystrophy
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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Primary Brain Tumours in Adults
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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