Vigabatrin Improves Paroxysmal Dystonia in Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 68:1320-1321, Leuzzi,V.,et al, 2007
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
Neurol 101:46-49, deGusmao,C.M.,et al, 2023
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
Lancet 369:37-42,5, Wilcken,B.,et al, 2007
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Frequently Missed Diagnosis?
Neurol 67:1519, Koppel,S.,et al, 2006
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
Ann Neurol 15:144-153, Plaitakis,A.,et al, 1984
Glutamate Dehydrogenase Deficiency in Patients with Olivopontocerebellar Atrophy
Neurol 33:1322-1326, Duvoisin,R.C.,et al, 1983
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Clinicopathologic Conference, Myeloperoxidase antineutrophil cytoplasmic antibody-associated vasculitis
NEJM 390:843-851, Case 7-2024, 2024
Clinicopathologic Conference, Vitamin B12 Deficiency Due to Pernicious Anemia
NEJM 390:747-756, Case 6-2024, 2024
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
IgG4-Related Orbital Inflammation
https://EyeWiki.org, Oct, Chelnis,J. & Gervasio,K.A., 2023
Neurologic Manifestations of Long COVID Differ Based on Acute COVID-19 Severity
Ann Neurol 94:146-159, Giraldo,G.S.P.,et al, 2023
Clinicopathologic Conference, Noncirrhotic hyperammonemia after Roux-en-Y Gastric Bypass
NEJM 389:1221-1230, Case 30-2023, 2023
Clinicopathologic Conference, Antiphospholipid Syndrome due to SLE with Hypocomplimentemia
NEJM 389: 2277-2285, Case 38-2023, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Pathogenesis and Clinical Manifestations of IgG4-Related Disease
WWW.UptoDate.com, April, Moutsopoulos,H.M.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Severe Hippocampal Atrophy in a Patient with Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy
JAMA Neurol 80:642-643, Bartels,F.,et al, 2023
Diagnosis of Delirium and Confusional States
www.UptoDate.com, July, Francis,Jr.,J. & Young,G.B., 2022
Cases with IgG4-related Ophthalmic Disease with Mass Lesions Surrounding the Optic Nerve
Am J Ophthalmol 25:101324, Hamaoka, S.,t al, 2022
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Hyperpigmentation in Vitamin B12 Deficiency
NEJM 386:172, Sherman, S.V., 2022
Association Between Occupational Exposure to Formaldehyde and Cognitive Impairment
Neurol 98:e633-e640, Letellier, N.,et al, 2022
Clinicopathologic Conference, Diffuse Large B-Cell Lymphoma
NEJM 386:977-986, Case 7-2022, 2022
Use of Marijuana: Effect on Brain Health: A Scientific Statement from the American Heart Association
Stroke 53:e176-e187, Fernando, T.,et al, 2022
A 51-Year-Old Woman with Diplopia and Headache
Neurol 99:524-530, Kathuria, G.,et al, 2022
Neuroimaging Biomarkers in a Patient with Probable Psychiatric-Onset Prodromal Dementia with Lewy Bodies
Neurol 99:654-657, Urso, D.,et al, 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Severe Vitamin B12 Deficiency Presenting as Pancytpenia, Hemolytic Anemia, and Parasthesia:Could Your B12 Be Any Lower?
Cureus doi:10.7759/cureus 29225, Pelling,M.M., et al, 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Rapidly Progressive Thalamic Dementia
Neurol 96:e809-e813, Rizzo, A.C.,et al, 2021
Bitots Spots, Dry Eyes, and Night Blindness Indicate Vitamin A Deficiency
Lancet 397:e2, Chakraborty, U. & Chandra, A., 2021
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
CLOVES Syndrome
Neurol 96:e1487-e1488, Collins, M.,et al, 2021
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
Cocaine and Levamisole Cerebral Toxicity
Ann Neurol 89:1253-1254, Allard, J.,et al, 2021