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Items: 9

1.
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients
Grace McMacken, Roger G. Whittaker, Teresinha Evangelista, Angela Abicht, Marina Dusl, Hanns Lochmüller
J Neurol. 2018; 265(1): 194–203. Published online 2017 Nov 30. doi: 10.1007/s00415-017-8689-3
PMCID:
PMC5760613
AbstractArticlePDF–1.1M
2.
Highly fatal fast-channel syndrome caused by AChR ɛ subunit mutation at the agonist binding site
Xin-Ming Shen, Joan M. Brengman, Simon Edvardson, Steve M. Sine, Andrew G. Engel
Neurology. 2012 Jul 31; 79(5): 449–454. doi: 10.1212/WNL.0b013e31825b5bda
PMCID:
PMC3405251
AbstractArticlePDF–652K
3.
Fundamental Gating Mechanism of Nicotinic Receptor Channel Revealed by Mutation Causing a Congenital Myasthenic Syndrome
Hai-Long Wang, Kinji Ohno, Margherita Milone, Joan M. Brengman, Amelia Evoli, Anna-Paola Batocchi, Lefkos T. Middleton, Kyproula Christodoulou, Andrew G. Engel, Steven M. Sine
J Gen Physiol. 2000 Sep 1; 116(3): 449–462. doi: 10.1085/jgp.116.3.449
PMCID:
PMC2233692
AbstractArticlePDF–217K
4.
Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome
Jason S. Groshong, Melissa J. Spencer, Bula J. Bhattacharyya, Elena Kudryashova, Bhupinder P.S. Vohra, Roberto Zayas, Robert L. Wollmann, Richard J. Miller, Christopher M. Gomez
J Clin Invest. 2007 Oct 1; 117(10): 2903–2912. Published online 2007 Sep 13. doi: 10.1172/JCI30383
PMCID:
PMC1974862
AbstractArticlePDF–1.0M
5.
Mutation History of the Roma/Gypsies
Bharti Morar, David Gresham, Dora Angelicheva, Ivailo Tournev, Rebecca Gooding, Velina Guergueltcheva, Carolin Schmidt, Angela Abicht, Hanns Lochmüller, Attila Tordai, Lajos Kalmár, Melinda Nagy, Veronika Karcagi, Marc Jeanpierre, Agnes Herczegfalvi, David Beeson, Viswanathan Venkataraman, Kim Warwick Carter, Jeff Reeve, Rosario de Pablo, Vaidutis Kučinskas, Luba Kalaydjieva
Am J Hum Genet. 2004 Oct; 75(4): 596–609. Published online 2004 Aug 20. doi: 10.1086/424759
PMCID:
PMC1182047
AbstractArticlePDF–312K
6.
Overlapping of MINK and CHRNE gene loci in the course of mammalian evolution
Ippeita Dan, Norinobu M. Watanabe, Eriko Kajikawa, Takafumi Ishida, Akhilesh Pandey, Akihiro Kusumi
Nucleic Acids Res. 2002 Jul 1; 30(13): 2906–2910. doi: 10.1093/nar/gkf407
PMCID:
PMC117062
AbstractArticlePDF–288K
7.
Acetylcholine receptor-inducing activity stimulates expression of the epsilon-subunit gene of the muscle acetylcholine receptor.
J C Martinou, D L Falls, G D Fischbach, J P Merlie
Proc Natl Acad Sci U S A. 1991 Sep 1; 88(17): 7669–7673. doi: 10.1073/pnas.88.17.7669
PMCID:
PMC52363
SummaryPage BrowsePDF–1.1M
8.
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.
K Ohno, D O Hutchinson, M Milone, J M Brengman, C Bouzat, S M Sine, A G Engel
Proc Natl Acad Sci U S A. 1995 Jan 31; 92(3): 758–762. doi: 10.1073/pnas.92.3.758
PMCID:
PMC42699
SummaryPage BrowsePDF–1.0M
9.
Acetylcholine receptor ɛ-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice
V. Witzemann, H. Schwarz, M. Koenen, C. Berberich, A. Villarroel, A. Wernig, H. R. Brenner, B. Sakmann
Proc Natl Acad Sci U S A. 1996 Nov 12; 93(23): 13286–13291. doi: 10.1073/pnas.93.23.13286
PMCID:
PMC24085
AbstractArticlePDF–353K

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