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Andrew G Engel

Showing results (81-90 of 129) with videos related to

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Neurology|May 18, 2012
Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding siteXin-Ming Shen, Joan M Brengman, Simon Edvardson, et al.
JAMA Neurology|June 9, 2015
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related MyastheniaDuygu Selcen, Bisei Ohkawara, Xin-Ming Shen, et al.
Orphanet Journal of Rare Diseases|November 28, 2018
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic eraRachel Thompson, Angela Abicht, David Beeson, et al.
Neurology|October 7, 2018
Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapyJustin C Kao, Margherita Milone, Duygu Selcen, et al.
Human Molecular Genetics|January 17, 2009
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndromeYang Bian, Akio Masuda, Tohru Matsuura, et al.
Muscle & Nerve|January 24, 2016
Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutationsTeerin Liewluck, Margherita Milone, Xia Tian, et al.
Neurology|July 28, 2021
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac TransplantationShahar Shelly, Niaz Talha, Naveen L Pereira, et al.
Annals of Neurology|March 24, 2005
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2HBenedikt G H Schoser, Patrick Frosk, Andrew G Engel, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|November 19, 2004
Structural abnormalities at neuromuscular synapses lacking multiple syntrophin isoformsMarvin E Adams, Neal Kramarcy, Taku Fukuda, et al.
Annals of Clinical and Translational Neurology|March 9, 2023
Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myastheniaXin-Ming Shen, Tomohiko Nakata, Seiji Mizuno, et al.
Pageof 13

Showing results (81-90 of 129) with videos related to

Sort By:
Pageof 13
Neurology|May 18, 2012
Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding siteXin-Ming Shen, Joan M Brengman, Simon Edvardson, et al.
JAMA Neurology|June 9, 2015
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related MyastheniaDuygu Selcen, Bisei Ohkawara, Xin-Ming Shen, et al.
Orphanet Journal of Rare Diseases|November 28, 2018
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic eraRachel Thompson, Angela Abicht, David Beeson, et al.
Neurology|October 7, 2018
Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapyJustin C Kao, Margherita Milone, Duygu Selcen, et al.
Human Molecular Genetics|January 17, 2009
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndromeYang Bian, Akio Masuda, Tohru Matsuura, et al.
Muscle & Nerve|January 24, 2016
Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutationsTeerin Liewluck, Margherita Milone, Xia Tian, et al.
Neurology|July 28, 2021
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac TransplantationShahar Shelly, Niaz Talha, Naveen L Pereira, et al.
Annals of Neurology|March 24, 2005
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2HBenedikt G H Schoser, Patrick Frosk, Andrew G Engel, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|November 19, 2004
Structural abnormalities at neuromuscular synapses lacking multiple syntrophin isoformsMarvin E Adams, Neal Kramarcy, Taku Fukuda, et al.
Annals of Clinical and Translational Neurology|March 9, 2023
Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myastheniaXin-Ming Shen, Tomohiko Nakata, Seiji Mizuno, et al.
Pageof 13