Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020
CRAO and Silent Brain Infarcts caused by Cardiac Myxomas in Carney Complex
Neurol 92:e286-e287, Huang, L-T.,et al, 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018
Clinicopathologic Conference, Posterior Cortical Atrophy with Frontotemporal Lobe Dementia with Gene Mutation
JAMA Neurol 74:114-118, , 2017
Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutieres Syndrome
Neurol 86:28-35, La Piana, R.,et al, 2016
Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
Neurol 82:e168-e170, Billakota, S. & Husseini, N.E., 2014
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
BJR 73:256-265, Coulthard, A.,et al, 2000
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Wilson Disease Presenting with Catatonia
Neurol 96:e2781-e2782, Patel, R.A. & Bailey, M., 2021
A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018
Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
Neurol 88:e26-e29, Qin, C.,et al, 2017
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Cerebral Venous Sinus Thrombosis in Homocystinuria: Dietary Intervention in Conjunction with Anticoagulation
Sage Open Med Case Reports 5:1-4, Yap, S.,et al, 2017
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
AJNR 35:402-406, Bhargava, R.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Intracranial Neoplasms and Paraneoplastic Disorders, Oligodendroglioma
Adams & Victors Principles of Neurology, Chp 31, pg 654, Ropper, A.H.,et al, 2014
Intracranial Neoplasms and Paraneoplastic Disorders, Meningioma
Adams & Victors Principles of Neurology, Chp 31, pg 656, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Alzheimer Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014
Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
NEJM 368:1971-1979, Shirley, M.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
A Prematurely Aging Patient Presenting with Severe Leukoaraiosis and Stroke
Neurol 78:e113-e114, Seixas,J.C.,et al, 2012
The Spectrum of Mutations in Progranulin: A Collaborative Study Screening 545 Cases of Neurodegeneration
Arch Neurol 67:161-170,145, Yu,C.-E.,et al, 2010
Familial Mediterranean Fever and Central Nervous System Involvement: A Case Series
Medicine 89:75-84, Kalyoncu,U.,et al, 2010
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
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Clinicopath Conf., Atypical Hemolytic-Uremic Syndrome
NEJM 361:389-400, Case 23-2009, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007
Prothombotic Mutations as Risk Factors for Cryptogenic Ischemic Cerebrovascular Events in Young Subjects With Patent Foramen Ovale
Stroke 38:2070-2073, Botto,N.,et al, 2007
Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke
NEJM 354:1489-1496, Gould,D.B.,et al, 2006
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002