Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Clinicopathologic Conference, Antiphospholipid Syndrome due to SLE with Hypocomplimentemia
NEJM 389: 2277-2285, Case 38-2023, 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Clinicopathologic Conference, Diffuse Large B-Cell Lymphoma
NEJM 386:977-986, Case 7-2022, 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Rapidly Progressive Thalamic Dementia
Neurol 96:e809-e813, Rizzo, A.C.,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
Vitamin B12 Deficiency in a 29-Year-Old Woman
Neurol 97:e643-e646, Huddar, A.,et al, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
HIV-Associated CD8 Encephalitis: A UK Case Series and Review of Histopathologically Confirmed Cases
Front Neurol 12:628296, Lucas,S.B.,et al, 2021
Case Report: Anti-NMDA Receptor Encephalitis with Bilateral Hearing Loss as the Initial Symptom
Front Neurol doi:10.3389/FNEUR.2021.648911, Cheng,H.,et al, 2021
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020
A Patient with Psychiatric Illness and Multiple Hemorrhages
JAMA 322:2437-2438, Van Baalen, E.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Diagnosis and Management of the Antiphospholipid Syndrome
NEJM 378:2010-2021, Garcia, D. & Erkan, D., 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Spontaneous Subarachnoid Haemorrhage
Lancet 389:655-666, Macdonald, R.L. & Schweizer, T.A., 2017
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016
Clinopathologic Conference, Celiac Disease
NEJM 374:1875-1883, Case 14-2016, 2016
Assessment and Management of Behavioral and Psychological Symptoms of Dementia
BMJ 350:h369, Kales, H.C.,et al, 2015
Treatment of Brain Metastases
J Clin Oncol 33:3475-3484, Lin, X. & DeAngelis, L.M., 2015
IgG4-Related Leptomeningitis: A Reversible Cause of Rapidly Progressive Cognitive Decline
Neurol 82:540-542, Mehta, S.H.,et al, 2014
Central Nervous System Manifestation of IgG4-Related Disease
JAMA Neurol 71:767-770, Regrev, K.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Wernicke-Korsakoff Syndrome (Thiamine B1) Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1162, Ropper, A.H.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin B12 (Cobalamin) Deficiency (Subacute Combined Degeneration)
Adams & Victors Principles of Neurology Chp 41, pg 1172, Ropper, A.H.,et al, 2014
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Normal Pressure Hydrocephalus
Adams & Victors Principles of Neurology, Chp 30, pg 624, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013
Immunotherapy-Responsive Chorea as the Presenting Feature of LGI1-Antibody Encephalitis
Neurol 79:195-196, Tofaris,G.K.,et al, 2012
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Granulomatous Meningitis due to Rheumatoid Arthritis
Acta Neurol Belg 112:193-197, Duray, M.C.,et al, 2012
Diagnosis and Management of Cerebral Venous Thrombosis: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
Stroke 42:1158-1192, Saposnik,G.,et al, 2011
Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Transition to Adult Care for Children with Chronic Neurological Disorders
Ann Neurol 69:437-444, Camfiled, P. & Camfield, C., 2011
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010