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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Familiality in Brain Tumors
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Primary Brain Tumours in Adults
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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Brain Tumors
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Familial Meningioma
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Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
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Mendelian Etiologies of Stroke
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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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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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
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Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Familial Leptomeningeal Amyloidosis With a Transthyretin Variant Asp18Gly Representing Repeated Subarachnoid Haemorrhages With Superficial Siderosis
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
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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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Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Erythromelalgia:Review of Clinical Characteristics and Pathophysiology
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Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
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Familial Idiopathic Striopallidodentate Calcifications
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Acid Maltase Deficiency
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The Spectrum of Fragile X Disorders
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Vascular Malformations of the Central Nervous System
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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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
More Than a Little Unsteady
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Amyotrophic Lateral Sclerosis
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High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
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Complex Ataxia
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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Ehlers-Danlos Syndromes
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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