Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
JAMA 277:832-836, Post,S.G.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Hereditary Spastic Paraplegia:Advances in Genetic Research
Neurol 46:1507-1514, Fink,J.K.,et al, 1996
Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
Ann Neurol 40:829-840, Levy-Lahad,E.&Bird,T.D., 1996
Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995
Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995
Apolipoprotein E Genotype in Patients with Alzheimer's Disease:Implications for Risk of Dementia Among Relatives
Ann Neurol 38:797-808, Farrer,L.A.,et al, 1995
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Clinical Genetics and Genetic Counseling in Alzheimer Disease
Ann Int Med 115:601-606, Breitner,J.C.S., 1991
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
Neurol 88:e26-e29, Qin, C.,et al, 2017
Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
J Stroke Cerebrovasc Dis 23:441-443, Kuroki, T.,et al, 2014
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012
Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Migraine and Cerebral White Matter Lesions
The Neurologist 11:19-29, Gladstone,J.P. &Dodick,D.W., 2005
Phaeochromocytoma
Lancet 366:665-675, Lenders,J.W.M.,et al, 2005
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
Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
Neurol 60:57-63,8, Vahedi,K.,et al, 2003
Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
Radiology 214:209-216, Brunereau,L.,et al, 2000
Angiographic and Clinical Characteristics of Patients with Cerebral Arteriovenous Malformations Associated with Hereditary Hemorrhagic Telangiectasia
AJNR 21:1016-1020, Matsubara,S.,et al, 2000
De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
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
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
Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
Stroke 25:1696-1698, Bowler,J.V.&Hachinski,V., 1994
Monomelic Amyotrophy
Muscle & Nerve 17:1129-1134994., Donofrio,P.D., 1994
DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
JNNP 57:1260-1262, Silander,K.,et al, 1994
Cervical Dystonia:Clinical Findings and Associated Movement Disorders
Neurol 41:1088-1091, Jankovic,J.,et al, 1991