Cerebrospinal Fluid Findings in Healthy Siblings of Multiple Sclerosis Patients
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Clinicopathological Conference
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Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
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Periodic Meningitis & Familial Mediterranean Fever
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A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
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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Aicardi-Gouti�res Syndrome
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Neuroimaging Findings in Human Prion Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Clinical and Genetic Studies of Fatal Familial Insomnia
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Hereditary Hemorrhagic Telangiectasia
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Infectious Prions or Cytotoxic Metabolites?
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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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Analysis of the Prion Protein Gene in Thalamic Dementia
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Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
NEJM 324:1091-1097, Hsiao,K.,et al, 1991
Preclinical Detection of Parkinson's Disease
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The Spongiform Encephalopathies, Editorial
JNNP 54:761-763, Will,R.G., 1991
Inherited Human Prion Diseases
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990
Narcolepsy & Immunity
BMJ 292:359-360, Parkes,J.D.,et al, 1986
The Neuropathology of Glycine Encephalopathy:Five Cases with Immunohistochemical & Ultrastructural Observations
Neurol 32:975-985, Agamanolis,D.P.,et al, 1982
Creutzfeldt-Jakob Disease:Patterns of Worldwide Occurrence & the Significance of Familial & Sporadic Clustering
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Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
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Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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