Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Alcohol and Alcoholism
Adams & Victors Principles of Neurology Chp 42, pg 1186, Ropper, A.H.,et al, 2014
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
Neurol 75:432-440, Mullen,S.A., et al, 2010
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
The Neurological Complications of Bariatric Surgery
Arch Neurol 61:1185-1189, Berger,J.R., 2004
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985
Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
Fragile X Chromosome & X-Linked Mental Retardation
CMA Journal 127:123-126, Larbrisseau,A.,et al, 1982
Neuropsychiatric Manifest. of SLE:Diagnosis, Clinical Spectrum, & Relationship to Other Features of the Disease
Medicine 55:323, Feinglass,E.J.,et al, 1976
The Thyroid Gland:Its Relationship to Neurology
In Handbook of Clin Neurol, Vinken & Bruyn (Ed) , North Holland Publ Co, Amsterdam 27:255, Greene,R., 1976
Neurotoxicity of Commonly Used Antineoplastic Agents
NEJM 291:75, 1271974., Weiss,H.,et al, 1974
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
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 Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
CLOVES Syndrome
Neurol 96:e1487-e1488, Collins, M.,et al, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020
Vitamin B6 Deficiency Presenting with New-Onset Epilepsy and Status Epilepticus in a Patient with Parkinson Disease
Neurol 94:e2605-e2607, Modica, J.S.,et al, 2020
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
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
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Primary Angiitis of the Central Nervous System
Stroke 48:1248-1255, Boulouis, G.,et al, 2017
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016
A Young Man with Recurrent Coma and Refractory Status Epilepticus
JAMA Neurol 73:1243-1244, Sheikh, Z.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
A 57-Year-Old Woman Who Developed Acute Amnesia Following Fever and Upper Respiratory Symptoms
Neurol 84:e102-e106, McCray, B.A.,et al, 2015
Neurological Manifestations of Scrub Typhus
JNNP 86:761-766, Misra, U.K.,et al, 2015
A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Pyridoxine (Vitamin B6 Deficiency)
Adams & Victors Principles of Neurology Chp 41, pg 1171, Ropper, A.H.,et al, 2014