Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Epilepsy in Adults with Mitochondrial Disease: A Cohort Study
Ann Neurol 78:949-957, Whittaker, R.G.,et al, 2015
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012
Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype: Study in 200 Consecutively Recruited Individuals
Stroke 41:630-634, Adib-Samii,P., et al, 2010
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Metabolic Disease and Stroke: MELAS
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Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
CADASIL: Cerebral Autosomal Subcortical Infarcts and Leukoecephalopathy
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
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
De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
Ion Channel Diseases:Episodic Disorders of the Nervous System
Semin Neurol 19:363-369, Ptacek,L.J., 1999
CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
Neurol 51:844-849, Desmond,D.W.,et al, 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998
Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
Ann Neurol 39:100-106, Elliott,M.A.,et al, 1996
Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
Neurol 45:1086-1091, Chabriat,H.,et al, 1995
Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
Ann Neurol 38:817-824, Hutchinson,M.,et al, 1995
Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
JNNP 59:579-585, Verin,M.,et al, 1995
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Migraine:Theories of Pathogenesis
Lancet 339:1202-1207, Blau,J.N., 1992
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Benign Sexual Headach within a Family
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An Autosomal Dominant Syndrome of Hemiplegic Migraine, Nystagmus, & Tremor
Ann Neurol 8:329-332, Zifkin,B.,et al, 1980
Burning Pain in the Legs
NEJM 383:e18, Sacks, C.A., 2020
Migraine, hearing loss, and blurred vision in a young woman
Neurol 95:e2945-e2950, Sasikumar, S.,et al, 2020
Cyclic Vomiting Syndrome in Children
AJGH 2:doi:10.33552/AJGH.2020, Al-Ansari, N., 2020
Encephalopathy in a Large Cohort of British Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Patients
Stroke 50:283-290, Drazyk, A.M.,et al, 2019
A Woman in her 40s with Transient Neurological Symptoms, Migraine Headaches, and Hearing Loss
JAMA Neurol 76:504-505, Roshal, D.A.,et al, 2019
Antiepileptic Drug Treatment Patterns in Women of Childbearing Age with Epilepsy
JAMA Neurol 76:783-790, Kim, H.,et al, 2019
Vestibular Migraine
BMJ 366:L4213, Li, V.,et al, 2019
Practice Guideline Update Summary: Botulinum Neurotoxin for the Treatment of Blepharospasm, Cervical Dystonia, Adult Spasticity, and Headache
Neurol 86:1818-1826, Simpson, D.M.,et al, 2016
Distinguishing Neuroimaging Features in Patients Presenting with Visual Hallucinations
AJNR 37:774-781, Winton-Brown, T.T.,et al, 2016
The Contemporary Spectrum of Multiple Sclerosis Misdiagnosis
Neurol 87:1393-1399, Solomon, A.J.,et al, 2016
Acute Headache Diagnosis in Pregnant Women
Neurol 85:1024-1030, Robbins, M.S.,et al, 2015
Transient Ischemic Attack Requiring Hospitalization of Children in the United States
Stroke 45:887-888, Adil, M.M.,et al, 2014
Stroke and NonStroke Brain Attacks in Children
Neurol 82:1434-1440, Mackay, M.T.,et al, 2014
Reversible Cerebral Vasoconstriction Syndrome and Cervical Artery Dissection in 20 Patients
Neurol 81:821-824, Mawet, J.,et al, 2013
Stroke-Like Migraine Attacks after Radiation Therapy (SMART) Syndrome is not Always Completely Reversible: A Case Series
AJNR 34:2298-2303, Black, D.F.,et al, 2013
SMART Syndrome (Stroke-Like Migraine Attacks After Radiation Therapy) in Adult and Pediatric Patients
J Child Neurol 29:336-341, Armstrong, A.E.,et al, 2013
A 48-year old woman with Recurrent Headache, Transient Neurologic Symptoms, and CSF Pleocytosis
Neurol 79e59-e62, Kerasnoudis, A.,et al, 2012
Vestibular Migraine
Neurol 79:1607-1614, Radtke, A.,et al, 2012
Neurological Complications of Sclerotherapy for Varicose Veins
J Vasc Surg 55:243-251, Sarvananthan, T.,et al, 2012
Clinical and MRI characteristics of acute migrainous infarction
Neurol 76:1911-1917, Wolf, M.E.,et al, 2011
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011