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congenital endplate acetylcholinesterase deficiency相关文献:
Congenital endplate acetylcholinesterase deficiency.
Hutchinson DO, Walls TJ, Nakano S, Camp S, Taylor P, Harper CM, Groover RV, Peterson HA, Jamieson DG, Engel AG.
Brain. 1993 Jun;116 ( Pt 3):633-53. doi: 10.1093/brain/116.3.633.
PMID:8390325
Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.
Bestue-Cardiel M, Sáenz de Cabezón-Alvarez A, Capablo-Liesa JL, López-Pisón J, Peña-Segura JL, Martin-Martinez J, Engel AG.
Neurology. 2005 Jul 12;65(1):144-6. doi: 10.1212/01.wnl.0000167132.35865.31.
PMID:16009904
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
Liewluck T, Selcen D, Engel AG.
Muscle Nerve. 2011 Nov;44(5):789-94. doi: 10.1002/mus.22176. Epub 2011 Sep 23.
PMID:21952943
Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome.
Ding Q, Shen D, Dai Y, Hu Y, Guan Y, Liu M, Cui L.
J Clin Neurosci. 2018 Feb;48:229-232. doi: 10.1016/j.jocn.2017.10.084. Epub 2017 Nov 14.
PMID:29150079
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
Ishigaki K, Nicolle D, Krejci E, Leroy JP, Koenig J, Fardeau M, Eymard B, Hantaï D.
Neuromuscul Disord. 2003 Mar;13(3):236-44. doi: 10.1016/s0960-8966(02)00243-2.
PMID:12609505
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol.
Chan SH, Wong VC, Engel AG.
Pediatr Neurol. 2012 Aug;47(2):137-40. doi: 10.1016/j.pediatrneurol.2012.04.022.
PMID:22759693
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.
Ohno K, Brengman J, Tsujino A, Engel AG.
Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9654-9. doi: 10.1073/pnas.95.16.9654.
PMID:9689136
COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
Arredondo J, Lara M, Ng F, Gochez DA, Lee DC, Logia SP, Nguyen J, Maselli RA.
Hum Genet. 2014 May;133(5):599-616. doi: 10.1007/s00439-013-1391-3. Epub 2013 Nov 27.
PMID:24281389
Protein-anchoring therapy to target extracellular matrix proteins to their physiological destinations.
Ito M, Ohno K.
Matrix Biol. 2018 Aug;68-69:628-636. doi: 10.1016/j.matbio.2018.02.014. Epub 2018 Feb 20.
PMID:29475025
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
Nakata T, Ito M, Azuma Y, Otsuka K, Noguchi Y, Komaki H, Okumura A, Shiraishi K, Masuda A, Natsume J, Kojima S, Ohno K.
Hum Mutat. 2013 Jul;34(7):997-1004. doi: 10.1002/humu.22325. Epub 2013 Apr 19.
PMID:23553736
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