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Andrew G Engel

Showing results (71-80 of 129) with videos related to

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The Journal of Physiology|February 3, 2007
Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptorAmalia Di Castro, Katiuscia Martinello, Francesca Grassi, et al.
The Journal of Clinical Investigation|June 26, 2012
Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gatingXin-Ming Shen, Joan M Brengman, Steven M Sine, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|January 9, 2022
Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetineCharungthai Dejthevaporn, Suppachok Wetchaphanphesat, Teeratorn Pulkes, et al.
The Journal of Biological Chemistry|December 25, 2015
Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop AspartatesXin-Ming Shen, Joan Brengman, David Neubauer, et al.
The Journal of Clinical Investigation|April 10, 2008
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gatingXin-Ming Shen, Taku Fukuda, Kinji Ohno, et al.
Neurology. Genetics|September 21, 2016
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myastheniaAndrew G Engel, Duygu Selcen, Xin-Ming Shen, et al.
The American Journal of Pathology|August 23, 2011
Inclusion body myositis: laser microdissection reveals differential up-regulation of IFN-γ signaling cascade in attacked versus nonattacked myofibersJana Ivanidze, Reinhard Hoffmann, Hanns Lochmüller, et al.
Human Molecular Genetics|September 23, 2008
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndromeAkio Masuda, Xin-Ming Shen, Mikako Ito, et al.
Neurology|February 17, 2017
Congenital myopathy associated with the triadin knockout syndromeAndrew G Engel, Keeley R Redhage, David J Tester, et al.
Neuromuscular Disorders : NMD|August 6, 2019
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmissionStefan Nicolau, Teerin Liewluck, Xin-Ming Shen, et al.
Pageof 13

Showing results (71-80 of 129) with videos related to

Sort By:
Pageof 13
The Journal of Physiology|February 3, 2007
Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptorAmalia Di Castro, Katiuscia Martinello, Francesca Grassi, et al.
The Journal of Clinical Investigation|June 26, 2012
Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gatingXin-Ming Shen, Joan M Brengman, Steven M Sine, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|January 9, 2022
Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetineCharungthai Dejthevaporn, Suppachok Wetchaphanphesat, Teeratorn Pulkes, et al.
The Journal of Biological Chemistry|December 25, 2015
Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop AspartatesXin-Ming Shen, Joan Brengman, David Neubauer, et al.
The Journal of Clinical Investigation|April 10, 2008
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gatingXin-Ming Shen, Taku Fukuda, Kinji Ohno, et al.
Neurology. Genetics|September 21, 2016
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myastheniaAndrew G Engel, Duygu Selcen, Xin-Ming Shen, et al.
The American Journal of Pathology|August 23, 2011
Inclusion body myositis: laser microdissection reveals differential up-regulation of IFN-γ signaling cascade in attacked versus nonattacked myofibersJana Ivanidze, Reinhard Hoffmann, Hanns Lochmüller, et al.
Human Molecular Genetics|September 23, 2008
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndromeAkio Masuda, Xin-Ming Shen, Mikako Ito, et al.
Neurology|February 17, 2017
Congenital myopathy associated with the triadin knockout syndromeAndrew G Engel, Keeley R Redhage, David J Tester, et al.
Neuromuscular Disorders : NMD|August 6, 2019
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmissionStefan Nicolau, Teerin Liewluck, Xin-Ming Shen, et al.
Pageof 13