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Wilson Disease
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Degenerative Diseases of the Nervous System, Parkinson 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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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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Prader-Willi and Angelman Syndromes
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neurofibromatosis Type I in Children
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Cavernous Maliformations of the Central Nervous System
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Sturge-Weber Syndrome
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Alzheimers Disease
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Recurrent Cerebral Ischemia During Pregnancies
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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Ehlers-Danlos Syndromes
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Neurological Management of Von Hippel-Lindau Disease
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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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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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Dopa-Responsive Dystonia Revisited
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Diagnosis and New Treatments in Muscular Dystrophies
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Aicardi-Gouti�res Syndrome
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A 23-Year-Old Man With Seizures and Visual Deficit
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Tuberous Sclerosis Complex: A Tale of Two Genes
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Spinal Muscular Atrophy
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Neurofibromatosis
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Tuberous Sclerosis
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Amyotrophic Lateral Sclerosis
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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