Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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Neonatal Seizures
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Red Papules on the Tongue of a Patient with Hemiparesis
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu 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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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
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The Spongiform Encephalopathies, Editorial
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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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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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Precautions in Familial Transmissible Dementia
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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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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Neurological Management of Von Hippel-Lindau Disease
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Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
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Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
Neurol 53:629-631, Weil,S.,et al, 1999
Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
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Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
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Molecular Genetics in Neurology
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
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Central Nervous System Haemangioblastoma:A Clinical & Genetic Study of 52 Cases
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Hematologic Disorders and Ischemic Stroke
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Occurrence of Both Neurofibromatosis 1 and 2 in the Same Individual with a Rapidly Progressive Course
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Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
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