Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
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Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
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Heritability of Carotid Artery Atherosclerotic Lesions
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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Familial Occipital Calcifications, hemorrhagic Strokes, Leukoencephalopathy, Dementia, and External Carotid Dysplasia
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Risk of Brain Infarction in Familial Hypercholesterolemia
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Familial Cervical Artery Dissections: Clinical, Morphologic, and Genetic Studies
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Recurrent Spontaneous Arterial Dissections-Risk in Familial Vs Nonfamilial Disease
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Familial Aorto-Cervicocephalic Arterial Dissections and Congenitally Bicuspid Aortic Valve
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Cerebrovascular Complications in Ehlers-Danlos Syndrome Type IV
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Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
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Familial Association of Intracranial Aneurysms and Cervical Artery Dissections
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Familial Cavernous Angiomas
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A Child with Delayed Motor Milestones and Ptosis
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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An unusual cause of stroke and hypoxia
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Optimal Screening Strategy for Familial Intracranial Aneurysms: A Cost-Effectiveness Analysis
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Update on Blepharospasm: Report from the BEBRF International Workshop
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Familial Infantile Bilateral Striatal Necrosis
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Cerebrovascular Manifestations in 321 Cases of Hereditary Hemorrhagic Telangiectasia
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Angiographic and Clinical Characteristics of Patients with Cerebral Arteriovenous Malformations Associated with Hereditary Hemorrhagic Telangiectasia
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Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
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Recommendations for the Management of Patients with Unruptured Intracranial Aneurysms
Stroke 31:2742-2750, Bederson,J.B.,et al, 2000
Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
BJR 73:256-265, Coulthard, A.,et al, 2000
Should We Screen for Familial Intracranial Aneurysm?
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Risks and Benefits of Screening for Intracranial Aneurysms in First-Degree Relatives of Patients with Sporadic Subarachnoid Hemorrhage
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MR Angiography as a Screening Tool for Intracranial Aneurysms:Feasibility, Test Characteristics, and Interobserver Agreement
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Middle Cerebral Artery Main Stem Thrombosis in Two Siblings with Familial Thrombotic Thrombocytopenic Purpura
Neurol 50:1157-1160, Kelly,P.J.,et al, 1998
Hereditary Form of Parkinsonism-Dementia
Ann Neurol 43:768-781, Muenter,M.D.,et al, 1998
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Initial and Follow-up Screening for Aneurysms in Families with Familial Subarachnoid Hemorrhage
Neurol 51:1125-1130, Raaymakers,T.W.M.,et al, 1998
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Clinical Genetic Analysis of Parkinson's Disease in the Contursi Kindred
Ann Neurol 40:767-775, Golbe,L.I.,et al, 1996