A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
A 42-year-old man with unilateral leg weakness
Neurol 90:e1085-e1090, Schneider, R.,et al, 2018
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995
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
Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,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
Progressive Camptocormia with Head Drop and Dysphagia
JAMA Neurol 80:209-210, El-Wahsh,S., et al, 2023
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
Neurologic Complications of Coronavirus Infections
Neurol 94:809-810, Nath, A., 2020
The Spectrum of Neurologic Disease in the Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic Infection
JAMA Neurol 77:679-680, Pleasure, S.J.,et al, 2020
Neuropathological Features of Covid-19
NEJM doi:10.1056/NEJMc2019373, Solomon, I.H.,et al, 2020
A 40-Year-Old Woman Presenting with Distal Leg Weakness
Neurol 92:242-247, Fam, D.,et al, 2019
Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
Neurol 92:663-674, Johansen, A.,et al, 2019
Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 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
A Case of Statin-Associated Autoimmune Myopathy
Clin Med Insights: Case Reports 10:1-4, Sweidan, A.J.,et al, 2017
Clinical Pathologic Conference, West Nile Virus Encephalitis
NEJM 377:1878-1886, Case 34-2017, 2017
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Mechanisms, Causes, and Effects of Hypercapnia
UptoDate Dec, Feller-Kopman, D.J. & Schwartzstein, R.M., 2016
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
A 64-year-old Man with Progressive Paraspinal Muscle Weakness
Neurol 86:e4-e9, Schneider, R.,et al, 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Clinical Laboratory and Findings of 21 Patients with Radiation-Induced Myopathy
JNNP 86:152-158, Ghosh, P.S. & Milone M., 2015
Clinicopathologic Conference, Dermatomyositis. Malignant Atrophic Papulosis (Degoss Disease), Involving the Skin and Gastrointestinal Tract
NEJM 370:2327-2337, Case 18-2014, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Acute Anterior Poliomyelitis
Adams & Victors Principles of Neurology, Chp 33, pg 763, Ropper, A.H.,et al, 2014
Progressive Weakness with Respiratory Failure in a Patient with Sarcoidosis
Arch Neurol 69:534-537, Chaudhry,P.,et al, 2012
Clinicopathologic Conference, Thymoma with Paraneoplastic Myasthenia Gravis, Polymyositis and Myocarditis, and Brain Stem Encephalitis
NEJM 365:2413-2422, Case 39-2011, 2011
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
A 46-Year-Old Woman With Severe Weakness Following Acute Respiratory Distress Syndrome
Neurol 68:1529-1535, Waclawik,A.J.,et al, 2007
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004
Primary Respiratory Failure in Inclusion Body Myositis
Neurol 63:2191-2192, Voermans,N.C.,et al, 2004
The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
Neurol 60:1246-1251,1230, Poppe,M.,et al, 2003
A Poliomyelitis-like Syndrome from West Nile Virus Infection
NEJM 347:1279-1280, Leis,A.A., et al, 2002