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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Neuroimaging Features of Biotinidase Deficiency
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Amyotrophic Lateral Sclerosis
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Aicardi-Gouti�res Syndrome
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Brain Tumors
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Recurrent Cerebral Ischemia During Pregnancies
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Ehlers-Danlos Syndromes
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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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Genetic Aspects of Alzheimer Disease
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Genomewide Association Studies of Stroke
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A Large-Scale International Meta-Analysis of Paraoxonase Gene Polymorphisms in Sporadic ALS
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Diagnosis and New Treatments in Muscular Dystrophies
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Genetics of Familial Amyotrophic Lateral Sclerosis
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Amyotrophic Lateral Sclerosis
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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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New Players in the Genetics of Stroke
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Amyotrophic Lateral Sclerosis
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Impact of the Human Genome Projects and Identification of a Stroke Gene
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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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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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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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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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