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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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Mitochondrial DNA and Disease
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Pediatric Leigh Syndrome
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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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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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Wilson Disease
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Zika Virus Associated with Microcephaly
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Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
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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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Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
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Diagnosis and New Treatment in Muscle Channelopathies
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Tuberous Sclerosis
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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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The Tuberous Sclerosis Complex
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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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Alzheimer Disease
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Gliomatosis Cerebri: Molecular Pathology and Clinical Course
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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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Hereditary Hemorrhagic Telangiectasia
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Human Prion Diseases
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Molecular Genetic Characterization of an X-Linked Form of Leigh's Syndrome
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
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Prion Dementia Without Characteristic Pathology
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Inherited Human Prion Diseases
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