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Chediak-Higashi Syndrome: Pathognomonic Feature
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Amaurotic Family Idiocy
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
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The Cherry-red Spot-Myoclonus Syndrome
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Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
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Systemic Membrane Defect in the Proximal Muscular Dystrophies
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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Nerve-Growth Factor in Familial Dysautonomia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 6-Year-Old Girl with Progressive Toe Walking
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Spinal Muscular Atrophy
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Red Papules on the Tongue of a Patient with Hemiparesis
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Somatic Mutations in Cerebral Cortical Malformations
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Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
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Inherited Metabolic Diseases of the Nervous System, Fabry Disease
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Spinal Muscular Atrophy A Timely Review
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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The Floppy Infant: Evaluation of Hypotonia
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Aicardi-Gouti�res Syndrome
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Tuberous Sclerosis
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Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Amyotrophic Lateral Sclerosis
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