Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
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
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Leigh Syndrome: Serial MR Imaging and Clinical Follow-Up
AJNR 21:1502-1509, Arii,J. & Tanabe,Y., 2000
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Clinicopathologic Conference, Disseminated Infection with Hypervirulent Klebsiella Pneumoniae
NEJM 394:282-294, Case 202026, 2026
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A 72-Year-Old Man With Meningoencephalitis
Neurol 104:e213658, Isaza-Pierotti,D.F.,et al, 2025
A 64-Year-Old Man with Confusion, Nausea, Seizure, and Fever
Neurol 104:e213659, Xu,A.,et al, 2025
A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
Neurol 105:e214233, Bu,S.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
Miyazaki Syndrome as a Complication of Shunt Drainage
Ann Neurol 96:1230-1231, vanLanen,R.H.G.J., et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,et al, 2023
Salt and Pepper Sign, PLNTY for Drug-Resistant Epilepsy
Neurol 100:791-795, Paredes-Aragon,E.M.,et al, 2023
Drug Resistant Epilepsy in a 61-Year-Old Man with Abnormal MRI Brain Findings and Management with Vagal Nerve Stimulator
Neurol 100:1111-1116, Mankad,J.P. & Lavingia,J.R., 2023
Posterior Reversible Encephalopathy Syndrome
NEJM 388:2171-2178, Geocadin,R.G., 2023
Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
NEJM 389:166-175, Case 21-2023, 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
A 48-Year-Old Woman with 6 Months of Vivid Visual Hallucinations
Neurol 99:166-171, Kizza, J.,et al, 2022
Clinicopathological Conference, Chronic Candida Albicans Meningitis
NEJM 387:641-650, Case 25-2022, 2022
Reversible Parkinsonism Caused by Lumboperitoneal Shunt Overdrainage
Neurol 99:486-488, Takeuchi, H.,et al, 2022
Clinicopathologic Conference, Mycobacterium Tuberculosis Meningitis
NEJM 384:166-176, Case 1-2021, 2021
Lentiform Fork Sign in Metabolic Acidosis
Ann Neurol 89:188-189, Kumar, N. & Kumar, D., 2021
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,et al, 2021
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference, Lympohplasmic Lymphoma of the CNS (Bing-Neel Syndrome)
NEJM 384:745-753, Case 6-2021, 2021
A Brewing Back Pain
NEJM 385:66-72, Pischel, L.,et al, 2021
A Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021
Clinicopathologic Conference, Fat Embolism Syndrome
NEJM 385:2464-2474, Case 39-2021, 2021
CNS Demyelinating Attacks Requiring Ventilatory Support With Myelin Oligodendrocyte Glycoprotein or Aquaporin-4 Antibodies
Neurol 97:e1351-e1358, Zhao-Fleming,H.H.,et al, 2021
Immunocompetent Patient with Multiple Cranial Nerve Palsies, Ataxia, and Cognitive Decline
Neurol 94:e225-e229, Nigam, M.,et al, 2020
A Young Health Woman with Difficult-to-Wean Acute Ventilator Dependence
Neurol 94:e1340-e1343, Chandrashekhar, S.,et al, 2020
Severe Neurological Toxicity of Immune Checkpoint Inhibitors: Growing Spectrum
Ann Neurol 87:659-669, Dubey, D.,et al, 2020
Neurologic Features in Severe SARS-CoV-2 Infection
NEJM 382:2268-2270, e110, , 2020
Neuropathy, Encephalopathy, Status Epilepticus, and Acute Intermittent Porphyria
Lancet 395:e101, Ahmed, M.A.,et al, 2020
Dural Defect Repair as Treatment for Refractory Headache From Cerebrospinal Fluid Leak
Neurol 95:e2831-e2833, Chan,T.L.H., et al, 2020
Fat Embolism Syndrome in Sickle Cell Disease
J Clin Med 9:1-12, Tsitsikas, D.A.,et al, 2020
Cerebrospinal Fluid Hypovolemia and Posterior Reversible Encephalopathy Syndrome
Front Neurol 11:591, Zheng,Y-y, et al, 2020
Acute Toxic Leukoencephalopathy: Etiologies, Imaging Findings, and Outcomes in 101 Patients
AJNR 40:267-275, Ozutemiz, C.,et al, 2019
Rapidly Progressive Vision Loss in a Patient with Breast Cancer
JAMA 322:1098-1099, Izzo, M.C.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018