High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Familial Leptomeningeal Amyloidosis With a Transthyretin Variant Asp18Gly Representing Repeated Subarachnoid Haemorrhages With Superficial Siderosis
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Cerebral Venous Thrombosis:Role of Activated Protein C Resistance and Factor V Gene Mutation
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Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Cerebrovascular Complications in Ehlers-Danlos Syndrome Type IV
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Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
Stroke 25:889-903, Schievink,W.I.,et al, 1994
Protein S Deficiency in Middle-Aged Women with Stroke
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Superior Sagittal Sinus Thrombosis in a Patient with Protein S Deficiency
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Familial Cavernous Malformations of the Central Nervous System & Retina
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Recurrent Cerebral Ischemia During Pregnancies
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A Teenager with Persistent Headache
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Ehlers-Danlos Syndromes
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Cranial Cavernous Malformations
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Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
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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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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
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Screening Patients with a Family History of Subarachnoid Haemorrhage for Intracranial Aneurysms: Screening Uptake, Patient Characteristics and Outcome
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Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
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Cerebral Amyloid Angiopathy
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
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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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Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
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Familial Versus Sporadic Cavernous Malformations: Differences in Developmental Venous Anomaly Association and Lesion Phenotype
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Optimal Screening Strategy for Familial Intracranial Aneurysms: A Cost-Effectiveness Analysis
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
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Update on the Natural History of Cavernous Malformations and Factors Predicting Aggressive Clinical Presentation
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Genomewide Association Studies of Stroke
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Aicardi-Gouti�res Syndrome
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Migraine and Cerebral White Matter Lesions
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Psychosocial Impact of Screening for Intracranial Aneurysms in Relatives with Familial Subarachnoid Hemorrhage
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Value of Gradient-Echo Magnetic REsonance Imaging in the Diagnosis of Familial Cerebral Cavernous Malformation
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Phaeochromocytoma
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Hyperhomocysteinemia, Low Folate and Vitamin B12 Concentrations, and Methylene Tetrahydrofolate Reductase Mutation in Cerebral Venous Thrombosis
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CADASIL: Cerebral Autosomal Subcortical Infarcts and Leukoecephalopathy
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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
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