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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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Recurrent Cerebral Ischemia During Pregnancies
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Neurological Management of Von Hippel-Lindau Disease
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Genetic Aspects of Alzheimer Disease
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Diagnosis and New Treatments in Muscular Dystrophies
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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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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Sensorineural Hearing Loss in Children
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical and Genetic Aspects of Distal Myopathies
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Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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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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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
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Creutzfeldt-Jakob Disease in a Young Woman
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Clinical Genetics in Neurological 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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Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Wilson Disease
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Unstable DNA Sequence in Myotonic Dystrophy
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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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