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Neuroimaging Findings in Human Prion Disease
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Infectious Prions or Cytotoxic Metabolites?
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Causal Heterogeneity in Isolated Lissencephaly
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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
The Spongiform Encephalopathies, Editorial
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Inherited Human Prion Diseases
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Neurological and Developmental Findings in Children with Cataracts
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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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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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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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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Red Papules on the Tongue of a Patient with Hemiparesis
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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, Lipogranulomatosis (Farber Disease)
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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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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Autosomal Dominant Acute Necrotizing Encephalopathy
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Multiple Sclerosis
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Clinical and Genetic Studies of Fatal Familial Insomnia
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Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
NEJM 326:444-449, Medori,R.,et al, 1992
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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Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
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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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Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Duchenne Muscular Dystrophy
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Pediatric Leigh Syndrome
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Muscular Dystrophies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018
Wilson Disease
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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