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 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Acute and Progressive Cognitive Decline in a 38-Year-Old Man
Neurol 105: e213871, Wu,L.,et al, 2025
Clinicopathologic conference, Malignant Mixed Germ-Cell Tumor and Anti-NMDA Receptor Encephalitis
NEJM 303:488-496, Case 22-2025, 2025
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Primary Central Nervous System Vasculitis
NEJM 391:1028-1037, Salvarani,C.,et al, 2024
Autoimmune Encephalitis Misdiagnosis in Adults
JAMA Neurol 80:30-39, Flanagan,E.P.,et al, 2023
Rapidly Progressive Dementia in a Man With HIV Infection and Undetectable Plasma Viral Load
Neurol 100:344-348, Chishimba,L.C.,et al, 2023
Cognitive and Clinical Characteristics of Patients with Limbic-Predominant Age-Related TDP-43 Encephalopathy
Neurol 100:e2027-e2035, Pagnotti,R.M.B.,et al, 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
HSV-Encephalitis Resembling Acute Cerebral Infarction in a Patient with Atrial Fibrillation, Beware of Stroke Mimics
Neurologist 27:30-33, Kargiotis,O.,et cl, 2022
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Clinicopathologic Conference, Insulinoma
NEJM 387:356-365, Case 23-2022, 2022
Pembrolizumab-Induced Migrating Cortico-Subcortical Brain Lesions
Ann Neurol 89:1255-1256, Lambert, N.,et al, 2021
Clinicopathologic Conference, Lead Poisoning
NEJM 385:2378-2388, Case 38-2021, 2021
"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
Limitations of a Commercial Assay as Diagnostic Test of Autoimmune Encephalitis
Front Immunol 12:691536, Ruiz-Garcia,R.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Central Nervous System Involvement in Erdheim-Chester Disease
Neurol 95:e2746-e2754, Aubart,F.C.,et al, 2020
Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
Brain DOI: 10.1093/brain/awz099, Nelson, P.T.,et al, 2019
Pathophysiology and Management of Hyperammonemia in Organ Transplant Patients
Am J Kidney Dis PMID:31040091, Seethapathy, H. & Fenves, A.Z., 2019
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Recurrent Dysarthria and Ataxia in a Young Girl
JAMA Neurol 75:125-126, Romba, M.,et al, 2018
Coma
Neurol 90:e1638-e1645, Schievink, W.I.,et al, 2018
Ethical, Palliative, and Policy Considerations in Disorders of Consciousness
Neurol 91:471-475, Fins, J.J. & Bernat, J.L., 2018
Atypical Presentation and Aggresive Evolution of Primary CNS Lymphoma (PCNSL)
Cancer Res Front 4:131-143, Topiwala, K.,et al, 2018
Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018
Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
Autoimmune Encephalitis: Pathophysiology and Imaging Review of an Overlooked Diagnosis
AJNR 38:1070-1078, Kelley, B.P.,et al, 2017
A Patient with a History of Encephalomyelitis and Recurrent Optic Neuritis
Neurol 89:e231-e234, Gutman, J.M.,et al, 2017
Clinopathologic Conference, Celiac Disease
NEJM 374:1875-1883, Case 14-2016, 2016
Long-Term Preclinical Magnetic Resonance Imaging Alterations in Sporadic Creutzfeldt-Jakob Disease
Ann Neurol 80:629-632, Zanusso, G.,et al, 2016
Rapidly Progressive Quadriplegia and Encephalopathy
JAMA Neurol 73:1363-1366, Wynn, D.,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
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Limbic Encephalitis Associated with Anti-Voltage-Gated Potassium Channel Complex Antibodies Mimicking Creutzfeldt-Jakob Disease
JAMA Neurol 71:79-82, Yoo,J.Y. & Hirsch, L.J., 2014
Clinical Associations and Causes of Convexity Subarachnoid Hemorrhage
Stroke 45:1151-1153, Khurram, A.,et al, 2014
Stroke and NonStroke Brain Attacks in Children
Neurol 82:1434-1440, Mackay, M.T.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Wernicke-Korsakoff Syndrome (Thiamine B1) Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1162, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
Diffusion-Weighted Imaging in Acute Hyperammonemic Encephalopathy
Neurohosp 3:125-130, Rosario, M.,et al, 2013
Misdiagnosis of Treatable Stroke Mimic: The Case for HIV Screening in Practice Guidelines
Neurohosp 3:125-130, Finelli, P.F., 2013
Sporadic Creutzfeldt-Jakob Disease with Focal Findings: Caveats to Current Diagnostic Criteria
Neurol Internat 5:1-5, Mader, E.C.,et al, 2013