GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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Wilson Disease:Clinical Presentation, Treatment, and Survival
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Alzheimers Disease
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Clinicopathologic Conference, Granulomatous Amebic Encephalitis and Sarcoidosis (Inactive)
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Neuroimaging Changes in Menkes Disease, Part 1
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Complications and Mortality in Hereditary Hemorrhagic Telangiectasia
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Enterovirus Vaccines for an Emerging Cause of Brain-Stem Encephalitis
NEJM 370:792-794, McMinn, P.C., 2014
Mystery Case: A Young Boy with Myoclonic Jerks
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Chediak-Higashi Syndrome: Pathognomonic Feature
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Pulmonary AVMs, including hereditary hemorrhagic telangiectasia: Diagnosis and Treatment
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Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
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Neurofibromatosis Type 2
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Neurologic Manifestations of von Hippel-Lindau Disease
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Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
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Glycogen-Storage Disease Type II
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
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The Serotonin Syndrome
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Natural History of Nonketotic Hyperglycinemia in 65 Patients
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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von Hippel-Lindau Disease
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Autosomal Dominant Acute Necrotizing Encephalopathy
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Learning Disability
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Hypertrophic Cardiomyopathy A Systematic Review
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Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
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Neurologic Complications in Children with Enterovirus 71 Infection
NEJM 341:936-942, Huang,C-C.,et al, 1999
Unilateral Pallidotomy for Parkinson's Disease:Results after More Than 1 Year
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Stereotactic pallidotomy for Trtm of Parkinson's Disease, Efficacy & Adverse Effects at 6 Mo in 26 Pts
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Nonaccidental Head Injury in Infants-The"Shaken-Baby Syndrome"
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Surgery for Parkinson's Disease
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Clinical Characteristics of a Chromosome 17-Linked Rapidly Progressive Familial Frontotemporal Dementia
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Prevalence of Parkinsonian Signs and Associated Mortality in a Community Population of Older People
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Fatal Insomnia in a Case of Familial Creutzfeldt-Jakob Disease with the Codon 200Lys Mutation
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Cerebrovascular Complications of Fabry's Disease
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Natural History in Proximal Spinal Muscular Atrophy
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Anticonvulsant Hypersensitivity Syndrome
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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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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Detecting Susceptibility to Malignant Hyperthermia
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Causal Heterogeneity in Isolated Lissencephaly
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
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