A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Tourette Syndrome and Other Tic Disorders, Diagnosis, Pathophysiology, and Treatment
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Narcolspey
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Narcolepsy-Cataplexy
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Amyotrophic Lateral Sclerosis
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Wilson Disease
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A Case of Refractory Nocturnal Seizures
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Autism
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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Huntingtons Disease
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Autism
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Tuberous Sclerosis Complex: A Tale of Two Genes
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Overview of Phenylketonuria
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A Genetic Risk Factor for Periodic Limb Movements in Sleep
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Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
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The Tuberous Sclerosis Complex
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Mitochondrial DNA Polymerase-y and Human Disease
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Learning Disability
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Niemann-Pick Disease Type C: Two Cases and an Update
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Diagnosis and Treatment of Wilson's Disease
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Tourette Syndrome:Update and Review of the Literature
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Prader-Willi and Angelman Syndromes
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Niemann-Pick Disease Type C from Bench to Bedside
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Tourette's Syndrome:A Model Neuropsychiatric Disorder
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Clinical and Genetic Studies of Fatal Familial Insomnia
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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Progressive Language Disorder Due to Lobar Atrophy
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
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Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
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Hypomelanosis of Ito
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Wilson Disease
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Analysis of the Prion Protein Gene in Thalamic Dementia
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Angelman Syndrome: Clinical Profile
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Neurologic Crises in Hereditary Tyrosinemia
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Tourette's Syndrome:Current Concepts
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Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
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Familial Patterns of Narcolepsy
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