Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis
NEJM 392:1461-1464, Gahl,W.A.,et al, 1988
Progressive Proximal Weakness in a 61-Year-Old Man
Neurol 98:122-127, Yu, M.,et al, 2020
A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
Statin-Associated Autoimmune Myopathy
NEJM 374:664-669, Mammen, A.L., 2016
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Myasthenia Gravis
NEJM 375:2570-2581, Gilhus, N.E.,et al, 2016
Correlation of Clinicoserologic and Pathologic Classifications of Inflammatory Myopathies
Medicine 92:15-24, Fernandez, C.,et al, 2013
The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies
Medicine 92:223-243, Rider, L.,et al, 2013
Inflammatory Myopathies with Anti-Ku Antibodies
Medicine 91:95-102, Rigolet,A.,et al, 2012
A Case of Necrotizing Myopathy with Proximal Weakness and Cardiomayopathy
Neurol 78:1527-1532, Matthews,E.,et al, 2012
Clinicopath Conf:Lymphoplasmocytic Lymphoma with Motor Neuronopathy,Waldenstrom's Macroglobulinemia
NEJM 340:1661-1669, , 1999
Myositis:Immunologic Contributions to Understanding Cause, Pathogenesis, and Therapy
Ann Int Med 122:715-724, Plotz,P.H.,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
Acquired Neuromyotonia:Evidence for Autoantibodies Directed Against K+Channels of Peripheral Nerves
Ann Neurol 38:714-722, 7011995., Shillito,P.,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
Clinicopath Conf
Small Cell CA (of lung) with Lambert-Eaton Myasthenic Syndr, Case 32-1994, NEJM 331:528-5354., , 1994
Myositis-Specific Autoantibodies, Touchstones for Understanding the Inflammatory Myopathies
JAMA 270:1846-1849, Miller,F.W., 1993
Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992
McArdle's Disease with Late-Onset Symptoms:Case Report & Review of the Literature
JNNP 55:407-408, Felice,K.J.,et al, 1992
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
Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990
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
Nearly Fatal Muscle Carnitine Deficiency with Full Recovery after Replacement Therapy
Neurol 33:1629-1631, Prockop,L.D.,et al, 1983
Weakness in Malignancy:Evidence for a Remote Effect of Tumor on Distal Axons
Ann Neurol 4:268-274, Barron,S.A.,et al, 1978
The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977