Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
Carnitine Deficiency Acute Postpartum Crisis
Ann Neurol 4:558-561, Angelini,C.,et al, 1978
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
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
Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
McArdle's Disease with Late-Onset Symptoms:Case Report & Review of the Literature
JNNP 55:407-408, Felice,K.J.,et al, 1992
Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Clinicopath Conf
Myopathy Due to Adult Acid Maltase Deficiency, 36-1986, NEJM 315:694-701986., , 1986
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985
Haemophilic Neuromyopathy
JNNP 42:600-605, Defaria,C.R.,et al, 1979
The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977
Progressive Camptocormia with Head Drop and Dysphagia
JAMA Neurol 80:209-210, El-Wahsh,S., et al, 2023
A 31-year-Old Man with Bilateral Limited Mobility of Joints
JAMA Neurol 79:1083-1084, Wang, Z.,et al, 2022
A 36-Year-Old Man With Asymmetric Muscle Weakness
Neurol 99"1057-1061, Harada,Y.,et al, 2022
A 63-Year-Old Woman Presenting with Bilateral Leg Pain
Neurol 96:343-348, Budhu, J.,et al, 2021
A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021
Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
Neurol 95:933-938, Paul,P.,et al, 2020
Covd-19-Associated Myopathy Caused by Type 1 Interferonopathy
NEJM 383:2389-2390, Manzano, A.C.,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
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018
Immune Checkpoint Inhibitor-Related Myositis and Myocarditis in Patients with Cancer
Neurol 91:e985-e994, Touat, M.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A 64-year-old Man with Progressive Paraspinal Muscle Weakness
Neurol 86:e4-e9, Schneider, R.,et al, 2016
Statin-Associated Autoimmune Myopathy
NEJM 374:664-669, Mammen, A.L., 2016
A 30-year-old Man with Progressive Weakness and Atrophy
Neurol 87:e227-e230, Quinn, C.,et al, 2016
Clinical Laboratory and Findings of 21 Patients with Radiation-Induced Myopathy
JNNP 86:152-158, Ghosh, P.S. & Milone M., 2015
Inflammatory Muscle Diseases
NEJM 372:1734-1747, Dalakas, M.C., 2015
A 51-year-old Woman with Weakness and Stiff Neck
Neurol 85:e32-e36, Kassardjian, C.D. & Milone, M., 2015
Mystery Case: A 63-year-old Man with Progressive Proximal Pain and Weakness
Neurol 82:e26-e29, Scripko, P.D.,et al, 2014
ICU-Acquired Weakness and Recovery from Critical Illness
NEJM 370:1626-1635, Kress, J.P. & Hall, J.B., 2014
Clinicopathologic Conference, Dermatomyositis. Malignant Atrophic Papulosis (Degoss Disease), Involving the Skin and Gastrointestinal Tract
NEJM 370:2327-2337, Case 18-2014, 2014
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Correlation of Clinicoserologic and Pathologic Classifications of Inflammatory Myopathies
Medicine 92:15-24, Fernandez, C.,et al, 2013
Clinicopathologic Conference, Inflammatory Myopathy and Myasthenia Gravis Assoc. with Thymoma
NEJM 369:764-773, Case 26-2013, 2013