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
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Pitfalls in the Diagnosis of Ventricular Shunt Dysfunction:Radiology Reports and Ventricular Size
Pediatrics 101:1031-1036, Iskandar,B.J.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
A Young Man with Daily Episodes of Altered Awareness
Neurol 98:e1197-e1203, Villamar, M.F.,et al, 2022
Recent Advances in the Diagnosis and Management of Cluster Headache
BMJ 376:e059577, Schindler, E. & Burish, M.J., 2022
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
A Brewing Back Pain
NEJM 385:66-72, Pischel, L.,et al, 2021
Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 2020
Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
Neurol 92:663-674, Johansen, A.,et al, 2019
Treatment of Patients with Psychogenic Nonepileptic Attacks
JAMA 321:1967-1968, Tolchin, B.,et al, 2019
A Misdiagnosis of Atypical Trigeminal Neuralgia
Neurol 93:124-131, Duvall, J.R. & Robertson, C.E., 2019
Paraoxysmal Tonic Upgaze in Children, Three Case Reports and a Review of the Literature
Pediatr Emer Care 35:e67-e69, Kartal,A., 2019
Diagnosis and Management of the Antiphospholipid Syndrome
NEJM 378:2010-2021, Garcia, D. & Erkan, D., 2018
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Clinicopathological Conference, Insulinoma
NEJM 379:376-384, Case 23-2018, 2018
Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect
Front Neurol doi:10.3389/fneur.2018.0069, Gagliardi, D.,et al, 2018
Autoimmune Encephalitis: Pathophysiology and Imaging Review of an Overlooked Diagnosis
AJNR 38:1070-1078, Kelley, B.P.,et al, 2017
A 45 Year Old Patient with Headache, Fever, and Hyponatraemia
BMJ 350:h962, Fountas, A.,et al, 2015
A Young Woman with Blurred Vision and Distal Paresthesias
JAMA Neurol 72:1519-1523, Kung, N.H.,et al, 2015
A 14-Year-Boy with Spells of Somnolence and Cognitive Changes
Neurol 82:e142-e146, de Gusmao, C.M.,et al, 2014
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Botulism
Adams & Victors Principles of Neurology Chp 43, pg 1218, Ropper, A.H.,et al, 2014
Diffusion-Weighted Imaging in Acute Hyperammonemic Encephalopathy
Neurohosp 3:125-130, Rosario, M.,et al, 2013
Infective Endocarditis at Autopsy
Medicine 91:152-164, Fernandez Guerrero,M.L.,et al, 2012
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Guillain-Barre Syndrome
BMJ 337:227-231, Winer,J.B., 2008
Diagnosis and Treatment of Neuromyelitis Optica
The Neurologist 13:2-11, Wingerchuk,D.M., 2007
Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
Neurol 69:586-595, Fertleman,C.R.,et al, 2007
Seizures on Hearing the Alarm Clock
Lancet 370:2172, Vollmar,C.,et al, 2007
The Serotonin Syndrome
NEMJ 352:1112-20, Boyer, E.W. & Shannon, M., 2005
Neuro-Ophthalmic Findings in the Visual Variant of Alzheimers Disease
Ophthalmology 111:376-381, Lee,A.G. &Martin,C.O., 2004
Misdiagnosis of Epilepsy in Patients Prescribed Anticonvulsant Drugs for Other Reasons
BMJ 326:326-327, Oto,M.,et al, 2003
The Accuracy of the Diagnosis of Paroxysmal Events in Children
Neurol 60:979-982, Stroink,H.,et al, 2003
Status Epilepticus: A Review of Different Syndromes, Their Current Evaluation, and Treatment
The Neurologist 9:61-76, Gaitanis,J.N. &Drislane,F.W., 2003
Why Headache Treatment Fails
Neurol 60:1064-1070, Lipton,R.B.,et al, 2003
Intrathecal Baclofen Withdrawal Mimicking Sepsis
J Emerg Med 24:423-427, Kao,L.W.,e tal, 2003
The Misdiagnosis of Epilepsy
BMJ 324:495-496, Chadwick,D. &Smith,D., 2002
A Poliomyelitis-like Syndrome from West Nile Virus Infection
NEJM 347:1279-1280, Leis,A.A., et al, 2002
Narcolepsy mistaken for Epilepsy
BMJ 322:216-218, Zeman,A.,et al, 2001