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Pediatric Neurology|July 5, 2012
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterolSophelia H S Chan, Virginia C N Wong, Andrew G Engel
Neuromuscular Disorders : NMD|November 13, 2012
Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota HutteriteTeerin Liewluck, Jennifer A Tracy, Eric J Sorenson, et al.
The Journal of Physiology|March 11, 2006
The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloadingSergio Fucile, Antonietta Sucapane, Francesca Grassi, et al.
Neurology|November 19, 2011
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophyDuygu Selcen, Mark B Bromberg, Steven S Chin, et al.
Annals of the New York Academy of Sciences|June 24, 2008
Further observations in congenital myasthenic syndromesAndrew G Engel, Xin-Ming Shen, Duygu Selcen, et al.
Annals of Neurology|May 11, 2006
Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdownXin-Ming Shen, Feza Deymeer, Steven M Sine, et al.
Scientific Reports|September 7, 2017
SRSF1 suppresses selection of intron-distal 5' splice site of DOK7 intron 4 to generate functional full-length Dok-7 proteinKhalid Bin Ahsan, Akio Masuda, Mohammad Alinoor Rahman, et al.
BMC Biology|July 7, 2016
Global identification of hnRNP A1 binding sites for SSO-based splicing modulationGitte H Bruun, Thomas K Doktor, Jonas Borch-Jensen, et al.
Genes & Development|May 22, 2015
Position-specific binding of FUS to nascent RNA regulates mRNA lengthAkio Masuda, Jun-ichi Takeda, Tatsuya Okuno, et al.
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