Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
Clinicopathologic Conference, Infective Endocarditis Due to Haemophilus Parainfluenza
NEJM 391:2148-2157, Case 38-2024, 2024
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Fat Embolism Syndrome in Sickle Cell Disease
J Clin Med 9:1-12, Tsitsikas, D.A.,et al, 2020
Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
Neurol 92:663-674, Johansen, A.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 2018
Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
A Case of Altered Mental Status, Not Otherwise Specified
Neurol 89:e154-e158, Swor, D.E.,et al, 2017
Clinical Pathologic Conference, West Nile Virus Encephalitis
NEJM 377:1878-1886, Case 34-2017, 2017
Respiratory Failure in Acute Infective Endocarditis, Trends and Outcomes: Data from the National Inpatient Sample from 1999-2014
Chest 152:A63, Khalif, A., et al, 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Fat Embolism Syndrome Secondary to Bone Marrow Necrosis in Patients with Hemoglobinopathies
SMJ 109:549-553, Gangaraju, R.,et al, 2016
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Ischemic-Hypoxic Encephalopathy
Adams & Victors Principles of Neurology Chp 40, pg 1133, Ropper, A.H.,et al, 2014
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Diptheria
Adams & Victors Principles of Neurology Chp 43, pg 1217, Ropper, A.H.,et al, 2014
Bone Marrow Necrosis and Fat Embolism Syndrome in Sickle Cell Disease: Increased Susceptibility of Patients with Non-SS genotypes and a Possible Association with Human Parvovirus B19 Infection
Blood Rev 28:23-30, Tsitsikas, D.A.,et al, 2014
Clinicopathologic Conference, Thymoma with Paraneoplastic Myasthenia Gravis, Polymyositis and Myocarditis, and Brain Stem Encephalitis
NEJM 365:2413-2422, Case 39-2011, 2011
Clinicopath Conf,Lyme Disease of the Nervous System
NEJM 356:1561-1570, Case Record 11-2007, 2007
The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
Neurol 60:1246-1251,1230, Poppe,M.,et al, 2003
Fat embolism syndrome and elective knee arthroplasty
Can J Anesth 49:19-23, Jenkins, K.,et al, 2002
Baclofen Overdose:Drug Experimentation in a Group of Adolescents
Pediatrics 101:1045-1048, Perry,H.E.,et al, 1998
Clinicopath Conf
Placental Vascular Thrombosis Due to Listeria Infection, Cerebral Embolism and Infarction, Case 15-1, 97EJM 336:1439-1446,1997., 1997
Clinicopath Conf
Rocky Mountain Spotted Fever with Meningoencephalomyelitis, Vasculitis and Focal Myocarditis, Case 3, -17,NEJM 337:1149-1156,1997., 1997
Multifocal Motor Neuropathy
JNNP 60:599-603, Nobile-Orazio,E., 1996
Acute Toxic Reaction to Carbamazepine:Clinical Effects and Serum Concentrations
J Pediatr 121:295-299, Tibballs,J., 1992
Eosinophilia-Myalgia Syndrome, A Clinical Case Series of 21 Patients
Arch Int Med 151:533-537, Philen,R.M.,et al, 1991
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Trauma of the Spine and Spinal Cord-I
BMJ 301:34-38, Swain,A.,et al, 1990
Duchenne Muscular Dystrophy:Patterns of Clinical Progression and Effects of Supportive Therapy
Neurol 39:475-481, Brooke,M.H.,et al, 1989
Rigid Spine Syndrome and Rigid Spine Sign in Myopathies
J Child Neurol 4:273-282, Merlini,L.,et al, 1989
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Bilateral Diaphragmatic Paralysis Complicating Local Cardiac Hypothermia During Open Heart Surgery
Am J Med 77:243-249, Chandler,K.W.,et al, 1984
Obstructive Sleep Apnea in Family Members
NEJM 299:969-973, Strohl,K.P.,et al, 1978
Fatal Infantile Form of Muscle Phosphorylase Deficiency
Neurol 28:1124-1129, DiMauro,S.,et al, 1978