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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
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Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
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Angiokeratoma Corporis Diffusum
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RNF213 Polymorphisms in Intracranial Artery Dissection
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
De Novo Mutation in the Notch3 Gene Causing CADASIL
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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Cerebrovascular Complications of Fabry's Disease
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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Duchenne Muscular Dystrophy
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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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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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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
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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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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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Genetic Susceptibility to Stuttering
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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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Two Sets of Identical Twins with Cervical Artery Dissection Concordant for Temporal Artery Pathology
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Heritability of Carotid Artery Atherosclerotic Lesions
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Advances in the Genetics of Cerebrovascular Disease and Stroke
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Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
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CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
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Clinicopath Conf
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Stroke in Williams Syndrome
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Ischemic Stroke in Young Pts with Activated Protein C Resistance:Rpt of Three Cases Belonging to Three Different Kindreds
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Familial Subarachnoid Hemorrhage:Distinctive Features and Patterns of Inheritance
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New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
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Progressive Language Disorder Due to Lobar Atrophy
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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A Familial Disorder with Subcortical Ischemic Strokes, Dementia, and Leukoencephalopathy
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