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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Impact of the Human Genome Projects and Identification of a Stroke Gene
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Hereditary Hemorrhagic Telangiectasia
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Genetice of Cerebrovascular Disease
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Pediatric Leigh Syndrome
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Ehlers-Danlos Syndromes
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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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Neurofibromatosis Type 2
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Spinal Muscular Atrophy
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Tuberous Sclerosis
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Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
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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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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Fragile X Premutation With Atypical Symptoms at Onset
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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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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
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Pathogenetic Mechanisms of Parkin in Parkinson's Disease
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Alzheimer's Disease and Parkinson's Disease
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von Hippel-Lindau Disease
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The Hereditary Spastic Paraplegias
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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Sickle Cell Disease: The Neurological Complications
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Clinical and Genetic Aspects of Distal Myopathies
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The Brain Code in Health and Disease
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Hereditary Recurrent Focal Neuropathies, Clinical and Molecular Features
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Hereditary Spastic Paraparesis: A Review of New Developments
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What Level of Care for the Neurofibromatoses?
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Molecular Basis of the Neurodegenerative Disorders
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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The Genetics of Alzheimer Disease, Current Status and Future Prospects
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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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Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
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The Human Genome Project,Application in the Diagnosis and Treatment of Neurologic Diseases
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Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Complete Genomic Screen in Late-Onset Familial Alzheimer Disease, Evidence for a New Locus on Chromosome 12
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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