An unusual cause of stroke and hypoxia
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Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutieres Syndrome
Neurol 86:28-35, La Piana, R.,et al, 2016
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016
Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010
Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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A Multidisciplinary Study of Patients with Early-Onset PD with and Without Parkin Mutations
Neurol 72:110-116,106, Lohmann,E.,et al, 2009
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007
Parkinsons Disease and Genetics
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Complete Genomic Screen in Parkinson Disease
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Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
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