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Items: 15

1.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Kariminejad A, Almadani N, Khoshaeen A, Olsson B, Moslemi AR, Tajsharghi H.

BMC Genet. 2016 May 31;17(1):71. doi: 10.1186/s12863-016-0382-5.

2.

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004.

3.

Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies.

Hacohen Y, Jacobson LW, Byrne S, Norwood F, Lall A, Robb S, Dilena R, Fumagalli M, Born AP, Clarke D, Lim M, Vincent A, Jungbluth H.

Neurol Neuroimmunol Neuroinflamm. 2014 Dec 23;2(1):e57. doi: 10.1212/NXI.0000000000000057. eCollection 2015 Feb.

4.

Asymmetric transmitter binding sites of fetal muscle acetylcholine receptors shape their synaptic response.

Nayak TK, Auerbach A.

Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13654-9. doi: 10.1073/pnas.1308247110. Epub 2013 Jul 29.

5.

Novel mouse model reveals distinct activity-dependent and -independent contributions to synapse development.

Pacifici PG, Peter C, Yampolsky P, Koenen M, McArdle JJ, Witzemann V.

PLoS One. 2011 Jan 31;6(1):e16469. doi: 10.1371/journal.pone.0016469.

6.

Postsynaptic development of the neuromuscular junction in mice lacking the gamma-subunit of muscle nicotinic acetylcholine receptor.

Liu Y, Sugiura Y, Padgett D, Lin W.

J Mol Neurosci. 2010 Jan;40(1-2):21-6. doi: 10.1007/s12031-009-9248-x. Epub 2009 Aug 12.

7.

Abnormal development of the neuromuscular junction in Nedd4-deficient mice.

Liu Y, Oppenheim RW, Sugiura Y, Lin W.

Dev Biol. 2009 Jun 1;330(1):153-66. doi: 10.1016/j.ydbio.2009.03.023. Epub 2009 Apr 1.

8.

Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.

Méjat A, Decostre V, Li J, Renou L, Kesari A, Hantaï D, Stewart CL, Xiao X, Hoffman E, Bonne G, Misteli T.

J Cell Biol. 2009 Jan 12;184(1):31-44. doi: 10.1083/jcb.200811035. Epub 2009 Jan 5.

9.

Role of Myosin Va in the plasticity of the vertebrate neuromuscular junction in vivo.

Röder IV, Petersen Y, Choi KR, Witzemann V, Hammer JA 3rd, Rudolf R.

PLoS One. 2008;3(12):e3871. doi: 10.1371/journal.pone.0003871. Epub 2008 Dec 5.

10.

Loss of transforming growth factor-beta 2 leads to impairment of central synapse function.

Heupel K, Sargsyan V, Plomp JJ, Rickmann M, Varoqueaux F, Zhang W, Krieglstein K.

Neural Dev. 2008 Oct 14;3:25. doi: 10.1186/1749-8104-3-25.

11.

Muscle-wide secretion of a miniaturized form of neural agrin rescues focal neuromuscular innervation in agrin mutant mice.

Lin S, Maj M, Bezakova G, Magyar JP, Brenner HR, Ruegg MA.

Proc Natl Acad Sci U S A. 2008 Aug 12;105(32):11406-11. doi: 10.1073/pnas.0801683105. Epub 2008 Aug 6.

12.

Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.

McArdle PF, Rutherford S, Mitchell BD, Damcott CM, Wang Y, Ramachandran V, Ott S, Chang YP, Levy D, Steinle N.

BMC Med Genet. 2008 Jul 14;9:67. doi: 10.1186/1471-2350-9-67.

13.

Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning.

Liu Y, Padgett D, Takahashi M, Li H, Sayeed A, Teichert RW, Olivera BM, McArdle JJ, Green WN, Lin W.

Development. 2008 Jun;135(11):1957-67. doi: 10.1242/dev.018119. Epub 2008 Apr 23.

14.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S.

Am J Hum Genet. 2006 Aug;79(2):303-12. Epub 2006 Jun 20.

15.

The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading.

Fucile S, Sucapane A, Grassi F, Eusebi F, Engel AG.

J Physiol. 2006 May 15;573(Pt 1):35-43. Epub 2006 Mar 9.

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