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Andrew G Engel

Showing results (101-110 of 129) with videos related to

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Neuromuscular Disorders : NMD|February 15, 2011
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinshipRawiphan Witoonpanich, Teeratorn Pulkes, Charungthai Dejthevaporn, et al.
American Journal of Human Genetics|January 16, 2002
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndromeKinji Ohno, Andrew G Engel, Xin-Ming Shen, et al.
Annals of Neurology|July 16, 2008
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patientsDuygu Selcen, Margherita Milone, Xin-Ming Shen, et al.
Scientific Reports|October 15, 2013
HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNAMohammad Alinoor Rahman, Akio Masuda, Kenji Ohe, et al.
Experimental Neurology|June 7, 2020
A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gatingXin-Ming Shen, Li Di, Shelley Shen, et al.
Neurology|June 25, 2013
GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneityDuygu Selcen, Xin-Ming Shen, Margherita Milone, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 27, 2003
Myasthenic syndrome caused by mutation of the SCN4A sodium channelAkira Tsujino, Chantal Maertens, Kinji Ohno, et al.
Human Mutation|July 5, 2016
Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel GatingXin-Ming Shen, Tatsuya Okuno, Margherita Milone, et al.
Journal of Human Genetics|March 25, 2016
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genomeAkihide Shibata, Tatsuya Okuno, Mohammad Alinoor Rahman, et al.
Neuromuscular Disorders : NMD|February 4, 2018
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-upHacer Durmus, Xin-Ming Shen, Piraye Serdaroglu-Oflazer, et al.
Pageof 13

Showing results (101-110 of 129) with videos related to

Sort By:
Pageof 13
Neuromuscular Disorders : NMD|February 15, 2011
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinshipRawiphan Witoonpanich, Teeratorn Pulkes, Charungthai Dejthevaporn, et al.
American Journal of Human Genetics|January 16, 2002
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndromeKinji Ohno, Andrew G Engel, Xin-Ming Shen, et al.
Annals of Neurology|July 16, 2008
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patientsDuygu Selcen, Margherita Milone, Xin-Ming Shen, et al.
Scientific Reports|October 15, 2013
HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNAMohammad Alinoor Rahman, Akio Masuda, Kenji Ohe, et al.
Experimental Neurology|June 7, 2020
A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gatingXin-Ming Shen, Li Di, Shelley Shen, et al.
Neurology|June 25, 2013
GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneityDuygu Selcen, Xin-Ming Shen, Margherita Milone, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 27, 2003
Myasthenic syndrome caused by mutation of the SCN4A sodium channelAkira Tsujino, Chantal Maertens, Kinji Ohno, et al.
Human Mutation|July 5, 2016
Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel GatingXin-Ming Shen, Tatsuya Okuno, Margherita Milone, et al.
Journal of Human Genetics|March 25, 2016
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genomeAkihide Shibata, Tatsuya Okuno, Mohammad Alinoor Rahman, et al.
Neuromuscular Disorders : NMD|February 4, 2018
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-upHacer Durmus, Xin-Ming Shen, Piraye Serdaroglu-Oflazer, et al.
Pageof 13