Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
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, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
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
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Seizures on Hearing the Alarm Clock
Lancet 370:2172, Vollmar,C.,et al, 2007
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Panic Attacks and Panic Disorder:The Great Neurologic Imposters
Semin Neurol 15:126-132, Stahl,S.M.&Soefje,S., 1995
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Neurological Involvement in Wegener's Granulomatosis:An Analysis of 324 Consecutive Pts at the Mayo Clin
Neurol 33:4-9, Nishino,H.,et al, 1993
Recurrent Encephalopathy and Seizures in a US Native with HTLV-I-Associated Myelopathy/Tropical Spastic Paraparesis
Neurol 42:658-661, Smith,C.R.,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
Delayed Diagnosis of Juvenile Myoclonic Epilepsy
JNNP 55:497-499, Grunewald,R.A.,et al, 1992
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987
An unusual Cause of Apparent Epilepsy:ECG & EEG Findings in a Case of Jervell Lange-Neilson Syndrome
JNNP 40:1102, Selby,P.J.,et al, 1977
A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024
Clinical,Neuroimaging,and Genetic Markers in Cerebral Amyloid Angiopatny-Related Inflammation:A Systematic Review and Meta-Analusis
Stroke 54:178-188, Theodorou,A.,et al, 2023
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,et al, 2023
Clinicopathologic Conference, Factitious Disorder
NEJM 388:1609-1615, Case 13-2023, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Stroke Mimics in the Acute Setting: Role of Multimodal CT Protocol
AJNR 43:216-222, Prodi, E.,et al, 2022
Cerebral Gnathostomiasis: An Unusual Course of Recurrent Hemorrhagic Stroke
Ann Neurol 92:107-109, Rattanawong, W.,et al, 2022
Functional Neurological Disorders
Neurologist 27:276-289, Mishra, A. & Pandey, S., 2022
Spontaneous Subarachnoid Haemorrhage
Lancet 400:846-862, Claassen, J. & Park, S., 2022
Diagnostic Accuracy Among Neurology Residents
Neurol 96:e1804-e1808, Schorr, E.M.,et al, 2021
Pembrolizumab-Induced Migrating Cortico-Subcortical Brain Lesions
Ann Neurol 89:1255-1256, Lambert, N.,et al, 2021
An Unexpected Response to Therapy in a Patient with HIV and Focal Seizures
Neurol 97:1084-1089, Chishimba, L.,et al, 2021
Primary Angiitis of the CNS Presenting with Recurrent Intracranial Hemorrhage
Neurol 94:e992-e995, Rice, J.,et al, 2020
Contrast-Induced Encephalopathy Following Coronary Angiography
Neurol 94:e2491-e2494, Harada, Y.,et al, 2020
Reversible Cerebral Vasoconstriction Syndrome
Stroke 50:2253-2258, Burton, T.M. & Bushnell, C.D., 2019
Childhood Primary Angiitis of the Central Nervous System
www.UptoDate.com, Dec, Twilt, M. & Benseler, S., 2019
Failing to See Blood on Susceptibility-Weighted Imaging
Neurol 93:e1495-e1496, Graham, E.,et al, 2019
Reversible Cerebral Vasoconstriciton Syndrome
www.UptoDate.com, June, Singhal, A., 2019
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
Atypical Presentation and Aggresive Evolution of Primary CNS Lymphoma (PCNSL)
Cancer Res Front 4:131-143, Topiwala, K.,et al, 2018
Primary Angiitis of the Central Nervous System
Stroke 48:1248-1255, Boulouis, G.,et al, 2017
Autoimmune Encephalitis: Pathophysiology and Imaging Review of an Overlooked Diagnosis
AJNR 38:1070-1078, Kelley, B.P.,et al, 2017
Subarachnoid Hemorrhage
NEJM 377:257-266, Lawton, M.T. & Vates, G.E., 2017
A Patient with a History of Encephalomyelitis and Recurrent Optic Neuritis
Neurol 89:e231-e234, Gutman, J.M.,et al, 2017
Validation of Clinicoradiological Criteria for the Diagnosis of Cerebral Amyloid Angiopathy-Related Inflammation
JAMA Neurol 73:197-202, Auriel, E.,et al, 2016