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
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Rapidly Progressive Thalamic Dementia
Neurol 96:e809-e813, Rizzo, A.C.,et al, 2021
Immunocompetent Patient with Multiple Cranial Nerve Palsies, Ataxia, and Cognitive Decline
Neurol 94:e225-e229, Nigam, M.,et al, 2020
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017
Identifying and Managing Common Childhood Language and Speech Impairments
BMJ 350:h2318, Reilly, S.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, Ropper, A.H.,et al, 2014
Clinicopathologic Conference, Acute Infectious Mononucleosis due to Epstein-Barr Virus Infection, Complicated by Acute Otitis Media and Postinfectious Cerebellitis
NEJM 369:1253-1261, Case 30-2013, 2013
Clinicopath Conf, Neuro-Behcets Disease
NEJM 360:2341-2351, Case 17-2009, 2009
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Zorevunersen in Children and Adolescents with Dravet Syndrome
NEJM 394:969-982, Laux,L.,et al, 2026
Deep Venous Dural Arteriovenous Fistula Mimicking Progressive Dementia
Stroke 57:e180-181, Langlois-Therien,T.,et al, 2026
Cerebral Amyloid Angiopathy
NEJM 394:1836-1845, Greenberg,S.M., 2026
Autoimmune Encephalitis as Treatment-Responsive Cause of Rapidly Progressive Dementia
Neurol 106:e214933, van Steenhoven,R.W.,et al, 2026
Progress Toward Mitigating Disability Progression in Multiple Sclerosis
NEJM 392:1966-1968, Calabresi,P.A., 2025
Upadacitinib - An Up-and-Comer for Treatment of Giant-Cell Arteritis
NEJM 392:2062-2064, Koster,M.J. & Warrington,K.J., 2025
A Phase 3 Trial of Inebilizumab in Generalized Myasthenia Gravis
NEJM 392:2309-2320, Nowak,R.J.,et al, 2025
Real-World Evidence of Brexpiprazole Use and 6-Month Mortality, Hospitalization, and Emergency Department Visits Among Persons with Dementia
Neurol 105: e213717, Zissimopoulos, J.,et al, 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
New Treatments for Migraine: CGRP Monoclonal Antibodies, Gepants, and Ditans
BMJ 390:e085564, Burch, R. & Rittenberg, E., 2025
Acromegaly
NEJM 393:1926-1939, Giustina,A. & Colao,A.,, 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
Evolving Role of Imaging in Acute Ischemic Stroke Care
Stroke 55:765-768, Ospel,J.M., & Boulouis,G., 2024
Lecanemab for Alzheimer Disease, Is It Worth It?
Neurol 102:e209265, Nelson,S.E. & Lopez,O.L., 2024
Decompressive Carniectomy Plus Best Medical Treatment Versus Best Medical Treatment Alone for Spontaneous Severe Deep Supratentorial Intracerebral Haemorrhage:A Randomised Controlled Clinical Trial
Lancet 403:2395-2404, Beck,J.,et al, 2024
Congenital and Acquired Chiari Syndrome
NEJM 390:2191-2198, Friedlander,R.M., 2024
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Primary Central Nervous System Vasculitis
NEJM 391:1028-1037, Salvarani,C.,et al, 2024
Clinicopathologic Conference, Myasthenia Gravis
NEJM 391:1441-1450, Case 32-2024, 2024
Chronic Immunotherapy for Myasthenia Gravis
www.UptoDate.Com, Bird,S.J., 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
Clinical,Neuroimaging,and Genetic Markers in Cerebral Amyloid Angiopatny-Related Inflammation:A Systematic Review and Meta-Analusis
Stroke 54:178-188, Theodorou,A.,et al, 2023
Lecanemab in Early Alzheimers Disease
NEJM 388:9-21,80, van Dyck,A.H.,et al, 2023
Clinicopath Conf, Chronic Salicylate Toxicity
NEJM 388:264-272, Case Record 2, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
A 66-Year-Old Woman With Progressive Encephalopathy and Bilateral Hearing Loss
Neurol 100:254-258, Rivers,D.,et al, 2023