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
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
Neurol 79: e70-e72, Zhong, L.,et al, 2012
Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Progressive Neurological Impairment and an Enhancing Brainstem Lesion in a Middle-Aged Man
JAMA Neurol 76:1397-1398, Gupta, S.,et al, 2019
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Man with Recurrent Paralysis and Cerebral White Matter Lesions
JAMA Neurol 74:599-600, Xiao, F., 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
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
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020
Adult-Onset Vanishing White Matter Disease
Neurol 90:e1091-e1092, Villar-Quiles, R.N.,et al, 2018
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,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
Characyeristic features and progression of abnormalities on MRI for CARASIL
Neurol 85:459-463, Sekine, Y., etal, 2015
Epilepsy in Adults with Mitochondrial Disease: A Cohort Study
Ann Neurol 78:949-957, Whittaker, R.G.,et al, 2015
Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
AJNR 35:119-123, Lin, D.D.M.,et al, 2014
Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
Neurol 82:e168-e170, Billakota, S. & Husseini, N.E., 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Restricted Diffusion in Vanishing White Matter
Arch Neurol 69:723-727, Van de Lei, H.D.W.,et al, 2012
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Mutations in Each of the Five Subunits of Translation Initiation Factor eIF2B Can Cause Leukoencephalopathy with Vanishing White Matter
Ann Neurol 51:264-270, van der Knaap,M.S.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Brain Tumors in Children
NEJM 386:1922-1931, Cohen, A.R., 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
A 6-Year-Old Boy with Muscle Twitching
Neurol 96:e301-e304, Lewis, H.S.,et al, 2021
Bilateral Temporal Pole Involvement in Adult-Onset X-Linked Adrenoleukodystrophy
JAMA Neurol 78:367-368, Liu, M.,et al, 2021
Brain and Skin Involvement in Erdheim-Chester Disease
Neurol 96:e1590-e1592, Budhram, A.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020