CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Adrenoleukodystrophy
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Fucosidosis Revisited:A Review of 77 Patients
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Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation
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Alzheimer's Disease
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Spinal Muscular Atrophy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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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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Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
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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Somatic Mutations in Cerebral Cortical Malformations
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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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, Infantile Niemann-Pick 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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Chediak-Higashi Syndrome: Pathognomonic Feature
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Spinal Muscular Atrophy A Timely Review
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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The Tuberous Sclerosis Complex
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Glycogen-Storage Disease Type II
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Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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