Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006
Metabolic Disease and Stroke: MELAS
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Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
Stroke 25:889-903, Schievink,W.I.,et al, 1994
Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Two Sets of Identical Twins with Cervical Artery Dissection Concordant for Temporal Artery Pathology
Neurol 71:1035-1037, V�lker,W.,et al, 2008
Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
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MR Imaging of Familial Basilar Impression
J Comput Assist Tomogr 8:953-956, Bewermeyer,H.,et al, 1984
Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
RNF213 Polymorphisms in Intracranial Artery Dissection
Genes doi.org/10.3390/genesis 15060725, Zedde,M.,et al, 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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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
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Degenerative Diseases of the Nervous System, Alzheimer Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014
Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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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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Decoding Cryptogenic Cardioembolism
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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New Players in the Genetics of Stroke
NEJM 347:1711-1712, Tournier-Lasserve,E., 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
J Am Coll Cardiol 39:301-307, Maron,B.J.,et al, 2002
Hypertrophic Cardiomyopathy A Systematic Review
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Advances in the Genetics of Cerebrovascular Disease and Stroke
Neurol 56:997-1008, Hademenos,G.J.,et al, 2001
Impact of the Human Genome Projects and Identification of a Stroke Gene
Stroke 32:1239-1241, Alberts,M.J., 2001
The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
NEJM 345:17-24,57, Ducros,A.,et al, 2001
Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
BJR 73:256-265, Coulthard, A.,et al, 2000
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
Inherited Prothrombotic States and Ischaemic Stroke in Childhood
JNNP 65:508-511, Ganesan,V.,et al, 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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Clinicopath Conf
Genetic Hemochromatosis, Micronodular Cirrhosis of Liver, Case 10-1997, NEJM 336:939-94797., , 1997
Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Stroke in Williams Syndrome
Stroke 27:143-146, Wollack,J.B.,et al, 1996
A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
Ann Neurol 37:289-293, 2851995., Vahedi,K.,et al, 1995
Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
Neurol 45:1086-1091, Chabriat,H.,et al, 1995
Ischemic Stroke in Young Pts with Activated Protein C Resistance:Rpt of Three Cases Belonging to Three Different Kindreds
Stroke 26:885-890, Simioni,P.,et al, 1995