Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
BMJ 339:706-707, Ong,A., 2009
Recommendations for the Management of Patients with Unruptured Intracranial Aneurysms
Stroke 31:2742-2750, Bederson,J.B.,et al, 2000
Familial Subarachnoid Hemorrhage, Outcome Study
Stroke 30:1099-1102, Ronkainen,A.,et al, 1999
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Initial and Follow-up Screening for Aneurysms in Families with Familial Subarachnoid Hemorrhage
Neurol 51:1125-1130, Raaymakers,T.W.M.,et al, 1998
Outcome in Familial Subarachnoid Hemorrhage
Stroke 26:961-963, Bromberg,J.E.C.,et al, 1995
Familial Intracranial Aneurysms, A Review
Stroke 23:1024-1030, terBerg,H.W.M.,et al, 1992
Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
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
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
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014
Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014
Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
J Stroke Cerebrovasc Dis 23:441-443, Kuroki, T.,et al, 2014
Screening Patients with a Family History of Subarachnoid Haemorrhage for Intracranial Aneurysms: Screening Uptake, Patient Characteristics and Outcome
JNNP 83:86-88, Miller, T.D.,et al, 2012
Cerebral Amyloid Angiopathy
eMedicine, Jan, Menon, R.S., 2012
MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy
Neurol 79:2349-2354, Morita, M.,et al, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Optimal Screening Strategy for Familial Intracranial Aneurysms: A Cost-Effectiveness Analysis
Neurol 74:1671-1679, Bor,A.S.E., et al, 2010
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010
Update on the Natural History of Cavernous Malformations and Factors Predicting Aggressive Clinical Presentation
Neurosurg Focus 29:E7, Washington,C.W.,et al, 2010
Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
Neurol 71:925-929, Van Gerpen,J.A.,et al, 2008
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
Benign Tremulous Parkinsonism
Arch Neurol 63:354-357,321, Josephs,K.A.,et al, 2006
Familial Cervical Artery Dissections: Clinical, Morphologic, and Genetic Studies
Stroke 37:2924-2929, Martin,J.J.,et al, 2006
Prognosis of Migraine Headaches in Adolescents: A 10-Year Follow-Up Study
Neurol 67:1353-1356, Monastero,R.,et al, 2006