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iPSC-derived functional human neuromuscular junctions model the pathophysiology of neuromuscular diseases.

Lin CY, Yoshida M, Li LT, Ikenaka A, Oshima S, Nakagawa K, Sakurai H, Matsui E, Nakahata T, Saito MK.

JCI Insight. 2019 Sep 19;4(18). pii: 124299. doi: 10.1172/jci.insight.124299.


Simplified in vitro engineering of neuromuscular junctions between rat embryonic motoneurons and immortalized human skeletal muscle cells.

Saini J, Faroni A, Abd Al Samid M, Reid AJ, Lightfoot AP, Mamchaoui K, Mouly V, Butler-Browne G, McPhee JS, Degens H, Al-Shanti N.

Stem Cells Cloning. 2019 Feb 20;12:1-9. doi: 10.2147/SCCAA.S187655. eCollection 2019.


Using induced pluripotent stem cells (iPSC) to model human neuromuscular connectivity: promise or reality?

Thomson SR, Wishart TM, Patani R, Chandran S, Gillingwater TH.

J Anat. 2012 Feb;220(2):122-30. doi: 10.1111/j.1469-7580.2011.01459.x. Epub 2011 Dec 2. Review.


Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice.

Kim JK, Caine C, Awano T, Herbst R, Monani UR.

Hum Mol Genet. 2017 Jul 1;26(13):2377-2385. doi: 10.1093/hmg/ddx124.


Formation and characterisation of neuromuscular junctions between hiPSC derived motoneurons and myotubes.

Demestre M, Orth M, Föhr KJ, Achberger K, Ludolph AC, Liebau S, Boeckers TM.

Stem Cell Res. 2015 Sep;15(2):328-36. doi: 10.1016/j.scr.2015.07.005. Epub 2015 Jul 26.


VAChT overexpression increases acetylcholine at the synaptic cleft and accelerates aging of neuromuscular junctions.

Sugita S, Fleming LL, Wood C, Vaughan SK, Gomes MP, Camargo W, Naves LA, Prado VF, Prado MA, Guatimosim C, Valdez G.

Skelet Muscle. 2016 Oct 5;6:31. eCollection 2016.


[Molecular mechanisms underlying the formation and maintenance of neuromuscular junctions and a possible therapeutic approach.]

Eguchi T, Tezuka T, Miyoshi S, Yamanashi Y.

Clin Calcium. 2017;27(3):413-419. doi: CliCa1703413419. Japanese.


The Composition, Development, and Regeneration of Neuromuscular Junctions.

Liu W, Chakkalakal JV.

Curr Top Dev Biol. 2018;126:99-124. doi: 10.1016/bs.ctdb.2017.08.005. Epub 2017 Nov 10. Review.


Muscle-restricted nuclear receptor interaction protein knockout causes motor neuron degeneration through down-regulation of myogenin at the neuromuscular junction.

Chen HH, Tsai LK, Liao KY, Wu TC, Huang YH, Huang YC, Chang SW, Wang PY, Tsao YP, Chen SL.

J Cachexia Sarcopenia Muscle. 2018 Aug;9(4):771-785. doi: 10.1002/jcsm.12299. Epub 2018 Apr 2.


The MuSK activator agrin has a separate role essential for postnatal maintenance of neuromuscular synapses.

Tezuka T, Inoue A, Hoshi T, Weatherbee SD, Burgess RW, Ueta R, Yamanashi Y.

Proc Natl Acad Sci U S A. 2014 Nov 18;111(46):16556-61. doi: 10.1073/pnas.1408409111. Epub 2014 Nov 3.


A stem-cell based bioassay to critically assess the pathology of dysfunctional neuromuscular junctions.

Chipman PH, Zhang Y, Rafuse VF.

PLoS One. 2014 Mar 13;9(3):e91643. doi: 10.1371/journal.pone.0091643. eCollection 2014.


Neuromuscular junctions are pathological but not denervated in two mouse models of spinal bulbar muscular atrophy.

Poort JE, Rheuben MB, Breedlove SM, Jordan CL.

Hum Mol Genet. 2016 Sep 1;25(17):3768-3783. doi: 10.1093/hmg/ddw222. Epub 2016 Aug 4.


Defects in neuromuscular junction structure in dystrophic muscle are corrected by expression of a NOS transgene in dystrophin-deficient muscles, but not in muscles lacking alpha- and beta1-syntrophins.

Shiao T, Fond A, Deng B, Wehling-Henricks M, Adams ME, Froehner SC, Tidball JG.

Hum Mol Genet. 2004 Sep 1;13(17):1873-84. Epub 2004 Jul 6.


Origin of acetylcholinesterase in the neuromuscular junction formed in the in vitro innervated human muscle.

Jevsek M, Mars T, Mis K, Grubic Z.

Eur J Neurosci. 2004 Dec;20(11):2865-71.


A functional human motor unit platform engineered from human embryonic stem cells and immortalized skeletal myoblasts.

Abd Al Samid M, McPhee JS, Saini J, McKay TR, Fitzpatrick LM, Mamchaoui K, Bigot A, Mouly V, Butler-Browne G, Al-Shanti N.

Stem Cells Cloning. 2018 Nov 9;11:85-93. doi: 10.2147/SCCAA.S178562. eCollection 2018.


Inducible depletion of adult skeletal muscle stem cells impairs the regeneration of neuromuscular junctions.

Liu W, Wei-LaPierre L, Klose A, Dirksen RT, Chakkalakal JV.

Elife. 2015 Aug 27;4. doi: 10.7554/eLife.09221.


Neuromuscular junction formation between human stem-cell-derived motoneurons and rat skeletal muscle in a defined system.

Guo X, Das M, Rumsey J, Gonzalez M, Stancescu M, Hickman J.

Tissue Eng Part C Methods. 2010 Dec;16(6):1347-55. doi: 10.1089/ten.TEC.2010.0040. Epub 2010 May 11.


Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of spinal muscular atrophy.

Murray LM, Beauvais A, Bhanot K, Kothary R.

Neurobiol Dis. 2013 Jan;49:57-67. doi: 10.1016/j.nbd.2012.08.019. Epub 2012 Aug 30.


Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

Arimura S, Okada T, Tezuka T, Chiyo T, Kasahara Y, Yoshimura T, Motomura M, Yoshida N, Beeson D, Takeda S, Yamanashi Y.

Science. 2014 Sep 19;345(6203):1505-8. doi: 10.1126/science.1250744.

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