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
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
No Lumbar Puncture in the Evaluation for Early Neonatal Sepsis:Will Meningitis Be Missed?
Pediatrics 95:803-806, Wiswell,T.E.,et al, 1995
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
MR Target Sign in Cerebral Aspergillosis
Neurohospitalist doi:10.1177/1941874420929191, Finelli, P.F., 2020
Spinal Dural Arteriovernous Fistula Presented with Rapidly Progressive Myelopathy, Longitudinally Extensive Spinal Cord Lesion, Pleocytosis with Polymorphonuclear Predominance, and Decreased Cerebrospinal fluid Glucose Levels:A Case Report
Rinsho Shinkeigaku 60:699-705, Kitazaki,Y.,et al, 2020
Clinical Metagenomic Sequencing for Diagnosis of Meningitis and Encephalitis
NEJM 380:2327-2340, Wilson, M.R.,et al, 2019
Neurosyphilis
NEJM 381:1358-1363, Ropper, A.H.,et al, 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
A Fatal Case of Undiagnosed Candida Meningitis-Role of Computer-assisted Diagnosis
Neurologist 23:138-140, Finelli, P.F., 2018
Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
A Patient with a History of Encephalomyelitis and Recurrent Optic Neuritis
Neurol 89:e231-e234, Gutman, J.M.,et al, 2017
Discriminating Long Myelitis of Neuromyelitis Optica from Sarcoidosis
Ann Neurol 79:437-447, Flanagan, E.P.,et al, 2016
Clinicopathologic Conference, Neurosarcoidosis
NEJM 374:1966-1975, Case 15-2016, 2016
Candida Meningitis in an Immunocompetent Patient Detected Through (1?3)-beta-?-glucan
Int J Infect Dis 51:25-26, Farrugia, M.K.,et al, 2016
Spectrum of Imaging Appearances of Intracranial Cryptococcal Infection in HIV/AIDS Patients in the Anti-Retroviral Therapy Era
Clin Radiol 71:9-17, Offiah, C.E. & Naseer, A., 2016
A 45 Year Old Patient with Headache, Fever, and Hyponatraemia
BMJ 350:h962, Fountas, A.,et al, 2015
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
Nocardiosis of the Central Nervous System
Medicine 93:19-32, Anagnostou, T.,et al, 2014
Stroke and NonStroke Brain Attacks in Children
Neurol 82:1434-1440, Mackay, M.T.,et al, 2014
Amyloid-Beta Related Angiitis of the Central Nervous System: Case Report and Topic Review
Front Neurol 5:1-4, Nouh, A.,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
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012
Infective Endocarditis at Autopsy
Medicine 91:152-164, Fernandez Guerrero,M.L.,et al, 2012
Dilemmas in the Diagnosis of Acute Community-Acquired Bacterial Meningitis
Lancet 380:1684-1692,1623, Brouwer, M.,et al, 2012
Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
NMDA Receptor Encephalitis Mimicking Seronegative Neuromyelitis Optica
Neurol 74:1473-1475, Kruer,M.C., et al, 2010
Tularemic Meningitis in the United States
Arch Neurol 66:523-527, Hofinger,D.M.,et al, 2009
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009
Diagnosis and Treatment of Neuromyelitis Optica
The Neurologist 13:2-11, Wingerchuk,D.M., 2007
10 Questions About the Clinical Determination of Brain Death
Neurologist 13:380-381, Wijdicks,E.F.M., 2007
Steroid-Responsive Encephalopathy Associated with Autoimmune Thyroiditis
Arch Neurol 63:197-202, Castillo,KP.,et al, 2006
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Spontaneous Spinal Cerebrospinal Fluid Leaks and Intracranial Hypotension
JAMA 295:2286-2296, Schievink,W.I., 2006
Migraine and Cerebral White Matter Lesions
The Neurologist 11:19-29, Gladstone,J.P. &Dodick,D.W., 2005
Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005
Clinical Features and Diagnosis of Primary Central Nervous System Lymphoma
Hematol Oncol Clin North Am 19:689-703, Fitzsimmons,A.,et al, 2005