RNF213 Polymorphisms in Intracranial Artery Dissection
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Heritability of Carotid Artery Atherosclerotic Lesions
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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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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Cerebrovascular Complications of Fabry's Disease
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Familial Subarachnoid Hemorrhage:Distinctive Features and Patterns of Inheritance
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Hereditary Hemorrhagic Telangiectasia
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Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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Mendelian Etiologies of Stroke
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MELAS Syndrome Involving a Mother & Two Children
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Identical Twins with Hereditary Hemorrhagic Telangiectasia Concordant for Cerebrovascular Arteriovenous Malformations
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Neurological Manifestations of Fabry Disease in Female Carriers
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Ribbon-Like Sign in Convexity Subarachnoid Hemorrhage
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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
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
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Neonatal Seizures
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Ehlers-Danlos Syndromes
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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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
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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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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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Red Papules on the Tongue of a Patient with Hemiparesis
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Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
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