Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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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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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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Clinical and Genetic Aspects of Distal Myopathies
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Linkage of Proximal Myotonic Myopathy to Chromosome 3q
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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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Prader-Willi and Angelman Syndromes
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Investigation of Muscle Disease
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Mitochondrial DNA and Disease
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Clinical Genetics in Neurological Disease
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Congenital Myopathies
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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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Causal Heterogeneity in Isolated Lissencephaly
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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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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Ehlers-Danlos Syndromes
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Muscular Dystrophies
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Zika Virus Associated with Microcephaly
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A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
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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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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Spinal Muscular Atrophy A Timely Review
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Diagnosis and New Treatment in Muscle Channelopathies
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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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The Tuberous Sclerosis Complex
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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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The Hereditary Spastic Paraplegias
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Sickle Cell Disease: The Neurological Complications
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Impact of the Human Genome Projects and Identification of a Stroke Gene
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Molecular Basis of the Neurodegenerative Disorders
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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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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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