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Items: 1 to 20 of 77

1.

Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site.

Shen XM, Brengman JM, Edvardson S, Sine SM, Engel AG.

Neurology. 2012 Jul 31;79(5):449-54. doi: 10.1212/WNL.0b013e31825b5bda. Epub 2012 May 16.

2.

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.

Chevessier F, Peter C, Mersdorf U, Girard E, Krejci E, McArdle JJ, Witzemann V.

Neurobiol Dis. 2012 Mar;45(3):851-61. doi: 10.1016/j.nbd.2011.10.024. Epub 2011 Dec 8.

PMID:
22178625
3.

Neurotoxicity induced by okadaic acid in the human neuroblastoma SH-SY5Y line can be differentially prevented by α7 and β2* nicotinic stimulation.

Del Barrio L, Martín-de-Saavedra MD, Romero A, Parada E, Egea J, Avila J, McIntosh JM, Wonnacott S, López MG.

Toxicol Sci. 2011 Sep;123(1):193-205. doi: 10.1093/toxsci/kfr163. Epub 2011 Jun 29.

PMID:
21715663
4.

Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel.

Piccari V, Deflorio C, Bigi R, Grassi F, Fucile S.

Cell Calcium. 2011 Apr;49(4):272-8. doi: 10.1016/j.ceca.2011.03.002. Epub 2011 Apr 5.

PMID:
21470676
5.

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.

Maselli RA, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, Davis RR, Gregg JP, Sivak M, Konia TH, Thomas K, Wollmann RL.

Clin Genet. 2011 Nov;80(5):444-51. doi: 10.1111/j.1399-0004.2010.01602.x. Epub 2010 Dec 22.

PMID:
21175599
6.

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

Salih MA, Oystreck DT, Al-Faky YH, Kabiraj M, Omer MI, Subahi EM, Beeson D, Abu-Amero KK, Bosley TM.

J Neuroophthalmol. 2011 Mar;31(1):42-7. doi: 10.1097/WNO.0b013e3181f50bea.

PMID:
21150643
7.

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.

Gaudon K, Pénisson-Besnier I, Chabrol B, Bouhour F, Demay L, Ben Ammar A, Bauché S, Vial C, Nicolas G, Eymard B, Hantaï D, Richard P.

J Med Genet. 2010 Dec;47(12):795-6. doi: 10.1136/jmg.2010.081034. Epub 2010 Oct 7.

PMID:
20930056
8.

Subunit symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating.

Bruhova I, Auerbach A.

J Biol Chem. 2010 Dec 10;285(50):38898-904. doi: 10.1074/jbc.M110.169110. Epub 2010 Sep 23.

9.

A large-scale candidate gene association study of age at menarche and age at natural menopause.

He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ.

Hum Genet. 2010 Nov;128(5):515-27. doi: 10.1007/s00439-010-0878-4. Epub 2010 Aug 24.

10.

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL.

Hum Mol Genet. 2010 Jun 15;19(12):2370-9. doi: 10.1093/hmg/ddq110. Epub 2010 Apr 6.

11.

Congenital Myasthenic Syndromes.

Abicht A, Müller J S, Lochmüller H.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 May 9 [updated 2016 Jul 14].

12.

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

Mihaylova V, Salih MA, Mukhtar MM, Abuzeid HA, El-Sadig SM, von der Hagen M, Huebner A, Nürnberg G, Abicht A, Müller JS, Lochmüller H, Guergueltcheva V.

Neurology. 2009 Dec 1;73(22):1926-8. doi: 10.1212/WNL.0b013e3181c3fce9. No abstract available.

PMID:
19949040
13.

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

Faber CG, Molenaar PC, Vles JS, Bonifati DM, Verschuuren JJ, van Doorn PA, Kuks JB, Wokke JH, Beeson D, De Baets M.

J Neurol. 2009 Oct;256(10):1719-23. doi: 10.1007/s00415-009-5190-7. Epub 2009 Jun 21.

14.

Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.

Saccone NL, Saccone SF, Hinrichs AL, Stitzel JA, Duan W, Pergadia ML, Agrawal A, Breslau N, Grucza RA, Hatsukami D, Johnson EO, Madden PA, Swan GE, Wang JC, Goate AM, Rice JP, Bierut LJ.

Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5;150B(4):453-66. doi: 10.1002/ajmg.b.30828.

15.

Voluntary partial retraction of: Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.

Croxen R, Hatton C, Shelley C, Brydson M, Chauplannaz G, Oosterhuis H, Vincent A, Newsom-Davis J, Colquhoun D, Beeson D.

Neurology. 2009 Jan 20;72(3):294. doi: 10.1212/01.wnl.0000344248.36823.b5. No abstract available.

PMID:
19153382
16.

Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.

Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A; Psychiatric Genetics Network Group..

Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):808-16. doi: 10.1002/ajmg.b.30902.

PMID:
19086053
17.

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D.

Neurology. 2008 Dec 9;71(24):1967-72. doi: 10.1212/01.wnl.0000336921.51639.0b.

PMID:
19064877
18.

Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties.

Zouridakis M, Zisimopoulou P, Eliopoulos E, Poulas K, Tzartos SJ.

Biochim Biophys Acta. 2009 Feb;1794(2):355-66. doi: 10.1016/j.bbapap.2008.11.002. Epub 2008 Nov 19.

PMID:
19059502
19.

Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravis.

Maclennan CA, Vincent A, Marx A, Willcox N, Gilhus NE, Newsom-Davis J, Beeson D.

J Neuroimmunol. 2008 Sep 15;201-202:28-32. doi: 10.1016/j.jneuroim.2008.06.016. Epub 2008 Jul 26.

PMID:
18657869
20.

Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome.

Groshong JS, Spencer MJ, Bhattacharyya BJ, Kudryashova E, Vohra BP, Zayas R, Wollmann RL, Miller RJ, Gomez CM.

J Clin Invest. 2007 Oct;117(10):2903-12.

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