Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Metabolic Disease and Stroke: MELAS
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Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
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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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De Novo Mutation in the Notch3 Gene Causing CADASIL
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CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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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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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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Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
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A Familial Disorder with Subcortical Ischemic Strokes, Dementia, and Leukoencephalopathy
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Hematologic Disorders and Ischemic Stroke
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Livedo Reticularis, Porcelain-White Scars, and Cerebral Thromboses
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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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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
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Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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Pediatric Leigh Syndrome
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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Bipolar II Disorder as the Initial Presentation of CADASIL:An Underdiagnosed Manifestation
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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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Red Papules on the Tongue of a Patient with Hemiparesis
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Sturge-Weber Syndrome
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Sturge-Weber Syndrome
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Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Conventional MRI and NOTCH3 Gene Screening in Sporadic CADASIL
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Genomewide Association Studies of Stroke
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Decoding Cryptogenic Cardioembolism
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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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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New Players in the Genetics of Stroke
NEJM 347:1711-1712, Tournier-Lasserve,E., 2002
Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
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Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
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