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Journal of Immunology (Baltimore, Md. : 1950)|August 1, 1997
A 17-Mer self-peptide of acetylcholine receptor binds to B cell MHC class II, activates helper T cells, and stimulates autoantibody production and electrophysiologic signs of myasthenia gravisH Yoshikawa, E H Lambert, D R Walser-Kuntz, et al.Annals of Neurology|October 1, 1979
Multiple endocrine neoplasia, type 2b: phenotype recognition; neurological features and their pathological basisP J Dyck, J A Carney, G W Sizemore, et al.Neuron|July 1, 1995
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinityS M Sine, K Ohno, C Bouzat, et al.Human Molecular Genetics|December 1, 1994
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutationM L Huie, A S Chen, S Tsujino, et al.Journal of Neuropathology and Experimental Neurology|November 1, 1980
Structural and biochemical effects of essential fatty acid deficiency on peripheral nerveB A Evans, J K Yao, R T Holman, et al.Annals of Neurology|June 1, 1996
MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathyK Ohno, M Yamamoto, A G Engel, et al.Neurology|July 1, 1981
Primary systemic carnitine deficiency. II. Renal handling of carnitineA G Engel, C J Rebouche, D M Wilson, et al.Proceedings of the National Academy of Sciences of the United States of America|January 31, 1995
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunitK Ohno, D O Hutchinson, M Milone, et al.Neurology|January 1, 1975
The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic featuresG Karpati, S Carpenter, A G Engel, et al.Muscle & Nerve|January 1, 1996
A transgenic mouse model of the slow-channel syndromeC M Gomez, B B Bhattacharyya, P Charnet, et al.Pageof 22