Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989
Progressive Camptocormia with Head Drop and Dysphagia
JAMA Neurol 80:209-210, El-Wahsh,S., et al, 2023
Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
Neurol 92:663-674, Johansen, A.,et al, 2019
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
A 64-year-old Man with Progressive Paraspinal Muscle Weakness
Neurol 86:e4-e9, Schneider, R.,et al, 2016
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Steroid Myopathy in Cancer Patients
Neurol 48:1234-1238, Batchelor,T.T.,et al, 1997
Is Chronic Respiratory Failure in Neuromuscular Diseases Worth Treating
JNNP 61:1-3, Shneerson,J.M., 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995
Acute Neuromuscular Respiratory Paralysis
JNNP 56:334-343, Hughes,R.A.C.&Bihari,D., 1993
Eosinophilia-Myalgia Syndrome, A Clinical Case Series of 21 Patients
Arch Int Med 151:533-537, Philen,R.M.,et al, 1991
Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
Ann Neurol 30:709-716, Stanley,C.A.,et al, 1991
Night-Time Nasal Ventilation in Neuromuscular Disease
Lancet 335:579-582, Heckmatt,J.Z.,et al, 1990
Acute Intermittent Porphyria
JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987
Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
J Pediatr 110:522-530, Reid,C.S.,et al, 1987
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,et al, 2021
Severe Neurological Toxicity of Immune Checkpoint Inhibitors: Growing Spectrum
Ann Neurol 87:659-669, Dubey, D.,et al, 2020
Covd-19-Associated Myopathy Caused by Type 1 Interferonopathy
NEJM 383:2389-2390, Manzano, A.C.,et al, 2020
Fat Embolism Syndrome in Sickle Cell Disease
J Clin Med 9:1-12, Tsitsikas, D.A.,et al, 2020
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Three-year Follow-up of Prospective Trial of Focused Ultrasound Thalamotomy for Essential Tremor
Neurol 93:e2284-e2293, Halpern, C.H.,et al, 2019
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 2018
Essential Tremor
NEJM 378:1802-1810, Haubenberger, D.,et al, 2018
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Clinicopathologic Conference, Eosinophilic Granulomatosis with Polyangiitis
NEJM 377:1569-1578, Case 32-2017, 2017
Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
A Randomized Trial of Focused Ultrasound Thalamotomy for Essential Tremor
NEJM 375:730-739,792, Elias, W.J.,et al, 2016
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 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
Efficacy of Idebenone on Respiratory Function in Patients with Duchenne Muscular Dystrophy not using Glucocorticoids (DELOS): A Double-Blind Randomised Placebo-Controlled Phase 3 Trial
Lancet 385:1748-1757,1704, Buyse, G.M.,et al, 2015
A Case of Refractory Nocturnal Seizures
Neurol 84:e134-e136, Pavlakis, P.P. & Douglass, L.M., 2015
Serotonin Syndrome
BMJ 348:g1626, Buckley, N.A.,et al, 2014