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A G Engel

Showing results (201-210 of 242) with videos related to

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Annals of Neurology|July 1, 1993
Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channelA G Engel, O D Uchitel, T J Walls, et al.
Neurology|February 1, 1979
Passively transferred experimental autoimmune myasthenia gravis. Sequential and quantitative study of the motor end-plate fine structure and ultrastructural localization of immune complexes (IgG and C3), and of the acetylcholine receptorA G Engel, H Sakakibara, K Sahashi, et al.
Neuromuscular Disorders : NMD|March 13, 2012
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship: CorrectionR Witoonpanich, T Pulkes, C Dejthevaporn, 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.
Annals of the New York Academy of Sciences|July 21, 1998
Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit geneM Milone, K Ohno, T Fukudome, 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.
Journal of Neurology|October 15, 2013
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSKLorenzo Maggi, R Brugnoni, V Scaioli, 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.
Pageof 25

Showing results (201-210 of 242) with videos related to

Sort By:
Pageof 25
Annals of Neurology|July 1, 1993
Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channelA G Engel, O D Uchitel, T J Walls, et al.
Neurology|February 1, 1979
Passively transferred experimental autoimmune myasthenia gravis. Sequential and quantitative study of the motor end-plate fine structure and ultrastructural localization of immune complexes (IgG and C3), and of the acetylcholine receptorA G Engel, H Sakakibara, K Sahashi, et al.
Neuromuscular Disorders : NMD|March 13, 2012
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship: CorrectionR Witoonpanich, T Pulkes, C Dejthevaporn, 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.
Annals of the New York Academy of Sciences|July 21, 1998
Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit geneM Milone, K Ohno, T Fukudome, 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.
Journal of Neurology|October 15, 2013
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSKLorenzo Maggi, R Brugnoni, V Scaioli, 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.
Pageof 25