Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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RNF213 Polymorphisms in Intracranial Artery Dissection
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Two Sets of Identical Twins with Cervical Artery Dissection Concordant for Temporal Artery Pathology
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Heritability of Carotid Artery Atherosclerotic Lesions
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Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
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Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
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Aicardi-Gouti�res Syndrome
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Metabolic Disease and Stroke: MELAS
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Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
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Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
Ischemic Stroke in Young Pts with Activated Protein C Resistance:Rpt of Three Cases Belonging to Three Different Kindreds
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Angelman Syndrome: Clinical Profile
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Superior Sagittal Sinus Thrombosis in a Patient with Protein S Deficiency
Stroke 21:633-636, Cros,D.,et al, 1990
Mendelian Etiologies of Stroke
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Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
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Clinicopathological Conference
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Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
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Familial Association of Giant Cell Arteritis
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Von Recklinghausen Neurofibromatosis
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Maternal Epilepsy & Abnormalities of the Fetus & Newborn
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Clinical Study of Nine Patients with ReNU Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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Duchenne Muscular Dystrophy
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Wilson Disease
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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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Neuroimaging Changes in Menkes Disease, Part 1
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Molybdenum Cofactor Deficiency
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Genetic Susceptibility to Stuttering
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