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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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Molecular Basis of the Neurodegenerative Disorders
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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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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Trinucleotide Repeat Expansion in Neurological Disease
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Zika Virus Associated with Microcephaly
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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The Autosomal Recessive Cerebellar Ataxias
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A 23-Year-Old Man With Seizures and Visual Deficit
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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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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The Hereditary Spastic Paraplegias
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Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
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PCR-Based Strategy for Dx of Hered Neuropathy with Liability to Pressure Palsies & Charcot-Marie-Tooth Dis Type 1A
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Prader-Willi and Angelman Syndromes
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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Investigation of Muscle Disease
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Inherited Primary Peripheral Neuropathies
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Depletion of Muscle Mitochondrial DNA in AIDS Patients with Zidovudine-Induced Myopathy
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
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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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Whipples Disease
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Unusual Variants of Alexander's Disease
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
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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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Linkage of Proximal Myotonic Myopathy to Chromosome 3q
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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