A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
Neurol 78: e126, Shah, S.,et al, 2012
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
Eur J Radiol Extra 54: 5-9, Teksam,M.,et al., 2005
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998
Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
Ann Neurol 41:111-114, Bernardini,G.L.,et al, 1997
Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Brain Imaging in Late-Onset CM2 Gangliosidosis
Neurol 43:2055-2058, Streifler,J.Y.,et al, 1993
Late Onset Globoid Cell Leukodystrophy
JNNP 54:1011-1012, Grewal,R.P.,et al, 1991
Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990
Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989
Clinicopathologic Conference, Seizure from Neurocysticercosis
NEJM 385:1894-1902, Case 34-2021, 2021
A Patient with a History of Weight Loss Presenting with Seizures
Neurol 95:e2038-e2042, Tang, G. & Benavides, D.R., 2020
Fat Embolism Syndrome in Sickle Cell Disease
J Clin Med 9:1-12, Tsitsikas, D.A.,et al, 2020
Identifying Ischemic Stroke Associated with Cancer: A Multiple Model Derived from a Case-Control Analysis
J Neurol 264:781-791, Kassubek, R.,et al, 2017
A Case of Fulminant Encephalopathy in a 69-year-old Woman
Neurol 89:e109-e114, Lamotte, G. and Williams, C, 2017
Basal Ganglia T1 Hyperintensity in Hereditary Hemorrhagic Telangiectasia
AJNR 38:1929-1933, Parvinian, A.,et al, 2017
Clinicopathologic Conference, Paroxysmal Nocturnal Hemoglobinuria
NEJM 377:2581-2590, Case 40-2017, 2017
A 37-Year-Old Man with Multiple Cranial Neuropathies
Neurol 86:e66-e70, OLoghlen, S.,et al, 2016
Discriminating Long Myelitis of Neuromyelitis Optica from Sarcoidosis
Ann Neurol 79:437-447, Flanagan, E.P.,et al, 2016
Clinicopathologic Conference, Cerebral Infarction from Internal Carotid Occlusion Related to Sickle Cell Arteriopathy
NEJM 374:1265-1275, Case 10-2016, 2016
Clinicopathologic Conference, Fulminant Liver Failure Associated with Hepatitis B Virus Infection
NEJM 375:163-171, Case 21-2016, 2016
Neuroimaging Features and Predictors of Outcome in Eclamptic Encephalopathy: A Prospective Observational Study
AJNR 35:1728-1734, Junewar, V.,et al, 2014
A 28-year-old Man with Progressive Gait Disturbance and Encephalopathy
Neurol 83:e204-e207, Massaro, A.M. & Pruitt, A., 2014
An Unusual Case of Adult-Onset Stills Disease with Hemophagocytic Syndrome, Necrotic Leukoencephalopathy and Disseminated Intravascular Coagulation
Case Reports Rheum Article ID 128623, Namas, R.,et al, 2014
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Sarcoidosis
Adams & Victors Principles of Neurology, Chp 32, pg 721, Ropper, A.H.,et al, 2014
Intracranial Neoplasms and Paraneoplastic Disorders, Intravascular Lymphoma
Adams & Victors Principles of Neurology, Chp 31, pg 663, Ropper, A.H.,et al, 2014
A 62-Yeal-Old Man with Fluctuating Neurological Deficits and Skin Lesions
JAMA Neurol 70:120-124, Konikkara, J.,et al, 2013
A Systematic Approach to the Diagnosis of Suspected Central Nervous System Lymphoma
JAMA Neurol 70:311-319, Scott, B.J.,et al, 2013
Mechanisms of Fingolimods Efficacy and Adverse Effects in Multiple Sclerosis
Ann Neurol 69:759-777, Cohen, J.A. & Chun, J., 2011
Neurosacrcoidosis: Presentations and Management
Neurologist 16:2-15, Terushkin,V.,et al, 2010
Oral Fingolimod or Intramuscular Interferon for Relapsing Multiple Sclerosis
NEJM 362:402-415, 456, Cohen,J.A.,et al, 2010
A Placebo-Controlled Trial of Oral Fingolimod in Relapsing Multiple Sclerosis
NEJM 362:387-401, 456, Kappos, L.,et al, 2010
Spinal Cord Sarcoidosis: Clinical and Laboratory Profile and Outcome of 31 Patients in a Case-Control Study
Medicine 89:133-140, Cohen-Aubart,F.,et al, 2010
Clinicopath Conf, Intravascular Large-B-Cell Lympoma
NEJM 362:1129-1138, Case 9-2010, 2010
Acute Hepatic Encephalopathy: Diffusion-Weighted and Fluid-Attenuated Inversion Recovery Findings, and Correlation With Plasma Ammonia Level and Clinical Outcome
AJNR 31:1471-1479, McKinney,A.M.,et al, 2010
Acute Hyperammonemic Encephalopathy in Adults: Imaging Findings
AJNR 32:413-418, U-King-Im,J.M.,et al, 2010
Neurosarcoidosis: A Study of 30 New Cases
JNNP 80:297-304, Joseph,F.G. &Scolding,N.J., 2009
Intravascular Lymphoma Masquerading as Multiembolic Stroke Developing After Coronary Artery By-Pass Surgery
The Neurologist 15:98-101, Sumer,M.,et al, 2009