Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
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Hereditary Hemorrhagic Telangiectasia
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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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Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Optimal Screening Strategy for Familial Intracranial Aneurysms: A Cost-Effectiveness Analysis
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Familial Cervical Artery Dissections: Clinical, Morphologic, and Genetic Studies
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Recommendations for the Management of Patients with Unruptured Intracranial Aneurysms
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Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
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Aneurysms in Relatives of Patients with Subarachnoid Hemorrhage,Frequency and Risk Factors
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Risks and Benefits of Screening for Intracranial Aneurysms in First-Degree Relatives of Patients with Sporadic Subarachnoid Hemorrhage
NEJM 341:1344-1350, The Magnetic Resonance Angiography in Relatives of, 1999
MR Angiography as a Screening Tool for Intracranial Aneurysms:Feasibility, Test Characteristics, and Interobserver Agreement
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Initial and Follow-up Screening for Aneurysms in Families with Familial Subarachnoid Hemorrhage
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Familial Intracranial Aneurysms
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Recurrent Spontaneous Arterial Dissections-Risk in Familial Vs Nonfamilial Disease
Stroke 27:662-624, Schievink,W.,et al, 1996
Intracranial Aneurysms:MR Angiographic Screening in 400 Asymptomatic Individuals with Increased Familial Risk
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Outcome in Familial Subarachnoid Hemorrhage
Stroke 26:961-963, Bromberg,J.E.C.,et al, 1995
Familial Aorto-Cervicocephalic Arterial Dissections and Congenitally Bicuspid Aortic Valve
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Cerebral Haemorrhage and Berry Aneurysm:Evidence from a Family for a Pattern of Autosomal Dominant Inheritance
JNNP 54:838-840, Shinton,R.,et al, 1991
Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
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Mendelian Etiologies of Stroke
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Familial Cavernous Angiomas
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Vascular Malformations of the Central Nervous System
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High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
AJNR 41:1126-1130, Mabray, M.C.,et al, 2020
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
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
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Neuromyelitis Optica Spectrum Disorders
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Intracranial Neoplasms and Paraneoplastic Disorders, Meningioma
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Screening Patients with a Family History of Subarachnoid Haemorrhage for Intracranial Aneurysms: Screening Uptake, Patient Characteristics and Outcome
JNNP 83:86-88, Miller, T.D.,et al, 2012
CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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An unusual cause of stroke and hypoxia
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Heritability of Carotid Artery Atherosclerotic Lesions
Stroke 36:5-8, Moskau,S.,et al, 2005
Psychosocial Impact of Screening for Intracranial Aneurysms in Relatives with Familial Subarachnoid Hemorrhage
Stroke 36:836-840, Wermer,M.J.H.,et al, 2005
Familial Leptomeningeal Amyloidosis With a Transthyretin Variant Asp18Gly Representing Repeated Subarachnoid Haemorrhages With Superficial Siderosis
JNNP 75:1463-1466, Jin,K.,et al, 2004
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
Neurol 60:57-63,8, Vahedi,K.,et al, 2003
Repeated Screening for Intracranial Aneurysms in Familial Subarachnoid Hemorrhage
Stroke 34:2788-2791, Wermer,M.J.H.,et al, 2003