An unusual cause of stroke and hypoxia
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The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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More Than a Little Unsteady
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Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019
Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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Autism
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Red Papules on the Tongue of a Patient with Hemiparesis
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
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Intracranial Neoplasms and Paraneoplastic Disorders, Meningioma
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Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Klein-Levin Syndrome: A Systematic Study of 108 Patients
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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Familiality in Brain Tumors
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Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
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Primary Brain Tumours in Adults
Lancet 361:323-331, Behin,A.,et al, 2003
Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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Frontotemporal Dementia is on the MAP
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CT and MR Findings of Neuroacanthocytosis
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Cerebral & Cerebellar Atrophy on Serial MRI in an Initially Symptom Free Subject at Risk of Familial Prion Disease
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Familial Migraine with Vertigo and Essential Tremor
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
Tourette's Syndrome:A Model Neuropsychiatric Disorder
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Clinical and Genetic Studies of Fatal Familial Insomnia
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Panic Attacks and Panic Disorder:The Great Neurologic Imposters
Semin Neurol 15:126-132, Stahl,S.M.&Soefje,S., 1995
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
neurol 44:1083-1086, Lasser,D.M.,et al, 1994
Real and Imagined Clinicopathological Limits of"Prior Dementia"
Lancet 341:127-129, Brown,P.,et al, 1993
Infectious Prions or Cytotoxic Metabolites?
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Progressive Language Disorder Due to Lobar Atrophy
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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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