A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Sturge-Weber Syndrome
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Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
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
Degenerative Diseases of the Nervous System, Alzheimer Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014
Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013
Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
NEJM 368:1971-1979, Shirley, M.,et al, 2013
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
A Multidisciplinary Study of Patients with Early-Onset PD with and Without Parkin Mutations
Neurol 72:110-116,106, Lohmann,E.,et al, 2009
Genomewide Association Studies of Stroke
NEJM 360:1718-1728, Ikram,M.A.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 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
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
Parkinsons Disease and Genetics
The Neurologist 12:240-244, Lester,J.&Otero-Siliceo,E., 2006
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
New Players in the Genetics of Stroke
NEJM 347:1711-1712, Tournier-Lasserve,E., 2002
Impact of the Human Genome Projects and Identification of a Stroke Gene
Stroke 32:1239-1241, Alberts,M.J., 2001
Complete Genomic Screen in Parkinson Disease
JAMA 286:2239-2244, Scott,W.K.,et al, 2001
Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
Lancet 350:1511-1515, 14901997., Joutel,A.,et al, 1997
Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
Am J Dis Child 147:1291-1294, Alvarado,M.,et al, 1993
Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
NEJM 326:1752-1755, 17751992., Bick,D.,et al, 1992
Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
Lancet 2:603-604, Palsdottir,A.,et al, 1988
Anderson-Fabray Disease, A Commonly Missed Diagnosis
BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988