{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:52:41Z","timestamp":1791121961045,"version":"4.1.0"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"24","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,12,15]]},"DOI":"10.1093\/hmg\/ddh333","type":"journal-article","created":{"date-parts":[[2004,10,20]],"date-time":"2004-10-20T20:12:47Z","timestamp":1098303167000},"page":"3229-3240","source":"Crossref","is-referenced-by-count":176,"title":["MUSK, a new target for mutations causing congenital myasthenic syndrome"],"prefix":"10.1093","volume":"13","author":[{"given":"Fr\u00e9d\u00e9ric","family":"Chevessier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brice","family":"Faraut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aymeric","family":"Ravel-Chapuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Gaudon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Bauch\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassandra","family":"Prioleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Herbst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelyne","family":"Goillot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Ioos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Philippe","family":"Azulay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Attarian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Paul","family":"Leroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Fournier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Legay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Schaeffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanine","family":"Koenig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Fardeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Eymard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Pouget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Hanta\u00ef","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2004,10,20]]},"reference":[{"key":"key\n\t\t\t\t20171012185207_DDH333C1","doi-asserted-by":"crossref","unstructured":"Engel, A.G., Ohno, K. and Sine, S.M. (2003) Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve, 27, 4\u201325.","DOI":"10.1002\/mus.10269"},{"key":"key\n\t\t\t\t20171012185207_DDH333C2","doi-asserted-by":"crossref","unstructured":"Hanta\u00ef, D., Richard, P., Koenig, J. and Eymard, B. (2004) Congenital myasthenic syndromes. Curr. Opin. Neurol., 17, 539\u2013551.","DOI":"10.1097\/00019052-200410000-00004"},{"key":"key\n\t\t\t\t20171012185207_DDH333C3","doi-asserted-by":"crossref","unstructured":"Ohno, K., Engel, A.G., Shen, X.M., Selcen, D., Brengman, J., Harper, C.M., Tsujino, A. and Milone, M. (2002) Rapsyn mutations in humans cause neuromuscular junction acetylcholine-receptor deficiency and myasthenic syndrome. Am. J. Hum. Genet., 70, 875\u2013885.","DOI":"10.1086\/339465"},{"key":"key\n\t\t\t\t20171012185207_DDH333C4","doi-asserted-by":"crossref","unstructured":"Richard, P., Gaudon, K., Andreux, F., Yasaki, E., Prioleau, C., Bauch\u00e9, S., Barois, A., Ioos, C., Mayer, M., Routon, M.C. et\u00a0al. (2003) Possible founder effect of rapsyn-N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. J. Med. Genet., 40, e81.","DOI":"10.1136\/jmg.40.6.e81"},{"key":"key\n\t\t\t\t20171012185207_DDH333C5","doi-asserted-by":"crossref","unstructured":"Gautam, M., Noakes, P.G., Mudd, J., Nichol, M., Chu, G.C., Sanes, J.R. and Merlie, J.P. (1995) Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice. Nature, 377, 232\u2013236.","DOI":"10.1038\/377232a0"},{"key":"key\n\t\t\t\t20171012185207_DDH333C6","doi-asserted-by":"crossref","unstructured":"Gautam, M., Noakes, P.G., Moscoso, L., Rupp, F., Scheller, R.H., Merlie, J.P. and Sanes, J.R. (1996) Defective neuromuscular synaptogenesis in agrin-deficient mutant mice. Cell, 85, 525\u2013535.","DOI":"10.1016\/S0092-8674(00)81253-2"},{"key":"key\n\t\t\t\t20171012185207_DDH333C7","doi-asserted-by":"crossref","unstructured":"DeChiara, T.M., Bowen, D.C., Valenzuela, D.M., Simmons, M.V., Poueymirou, W.T., Thomas, S., Kinetz, E., Compton, D.L., Rojas, E., Park, J.S. et\u00a0al. (1996) The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo. Cell, 85, 501\u2013512.","DOI":"10.1016\/S0092-8674(00)81251-9"},{"key":"key\n\t\t\t\t20171012185207_DDH333C8","doi-asserted-by":"crossref","unstructured":"Glass, D.J., Bowen, D.C., Stitt, T.N., Radziejewski, C., Bruno, J., Ryan, T.E., Gies, D.R., Shah, S., Mattsson, K., Burden, S.J. et\u00a0al. (1996) Agrin acts via a MuSK receptor complex. Cell, 85, 513\u2013523.","DOI":"10.1016\/S0092-8674(00)81252-0"},{"key":"key\n\t\t\t\t20171012185207_DDH333C9","doi-asserted-by":"crossref","unstructured":"Sanes, J.R. and Lichtman, J.W. (2001) Induction, assembly, maturation and maintenance of a postsynaptic apparatus. Nat. Rev. Neurosci., 2, 791\u2013805.","DOI":"10.1038\/35097557"},{"key":"key\n\t\t\t\t20171012185207_DDH333C10","doi-asserted-by":"crossref","unstructured":"Sander, A., Hesser, B.A. and Witzemann, V. (2001) MuSK induces in vivo acetylcholine receptor clusters in a ligand-independent manner. J. Cell Biol., 155, 1287\u20131296.","DOI":"10.1083\/jcb.200105034"},{"key":"key\n\t\t\t\t20171012185207_DDH333C11","doi-asserted-by":"crossref","unstructured":"Bezakova, G. and Ruegg, M.A. (2003) New insights into the roles of agrin. Nat. Rev. Mol. Cell. Biol., 4, 295\u2013308.","DOI":"10.1038\/nrm1074"},{"key":"key\n\t\t\t\t20171012185207_DDH333C12","doi-asserted-by":"crossref","unstructured":"Herbst, R. and Burden, S.J. (2000) The juxtamembrane region of MuSK has a critical role in agrin-mediated signaling. EMBO J., 19, 67\u201377.","DOI":"10.1093\/emboj\/19.1.67"},{"key":"key\n\t\t\t\t20171012185207_DDH333C13","doi-asserted-by":"crossref","unstructured":"Schaeffer, L., de Kerchove d'Exaerde, A. and Changeux, J.P. (2001) Targeting transcription to the neuromuscular synapse. Neuron, 31, 15\u201322.","DOI":"10.1016\/S0896-6273(01)00353-1"},{"key":"key\n\t\t\t\t20171012185207_DDH333C14","doi-asserted-by":"crossref","unstructured":"Woldeyesus, M.T., Britsch, S., Riethmacher, D., Xu, L., Sonnenberg-Riethmacher, E., Abou-Rebyeh, F., Harvey, R., Caroni, P. and Birchmeier, C. (1999) Peripheral nervous system defects in erbB2 mutants following genetic rescue of heart development. Genes Dev., 13, 2538\u20132548.","DOI":"10.1101\/gad.13.19.2538"},{"key":"key\n\t\t\t\t20171012185207_DDH333C15","doi-asserted-by":"crossref","unstructured":"Nguyen, Q.T., Son, Y.J., Sanes, J.R. and Lichtman, J.W. (2000) Nerve terminals form but fail to mature when post-synaptic differentiation is blocked: in vivo analysis using mammalian nerve-muscle chimeras. J. Neurosci., 20, 6077\u20136086.","DOI":"10.1523\/JNEUROSCI.20-16-06077.2000"},{"key":"key\n\t\t\t\t20171012185207_DDH333C16","doi-asserted-by":"crossref","unstructured":"Valenzuela, D.M., Stitt, T.N., DiStefano, P.S., Rojas, E., Mattsson, K., Compton, D.L., Nunez, L., Park, J.S., Stark, J.L., Gies, D.R. et\u00a0al. (1995) Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury. Neuron, 15, 573\u2013584.","DOI":"10.1016\/0896-6273(95)90146-9"},{"key":"key\n\t\t\t\t20171012185207_DDH333C17","doi-asserted-by":"crossref","unstructured":"Selcen, D., Fukuda, T., Shen, X.-M. and Engel, A.G. (2004) Are MuSK antibodies the primary cause of myasthenic symptoms? Neurology, 62, 1945\u20131950.","DOI":"10.1212\/01.WNL.0000128048.23930.1D"},{"key":"key\n\t\t\t\t20171012185207_DDH333C18","doi-asserted-by":"crossref","unstructured":"Ip, F.C.F., Glass, D.G., Gies, D.R., Cheung, J., Lai, K.O., Fu, A.K.Y., Yancopoulos, G.D., and Ip, N.Y. (2000) Cloning and characterization of muscle-specific kinase in chicken. Mol. Cell. Neurosci., 16, 661\u2013673.","DOI":"10.1006\/mcne.2000.0892"},{"key":"key\n\t\t\t\t20171012185207_DDH333C19","doi-asserted-by":"crossref","unstructured":"Trinidad, J.C., Fischbach, G.D., and Cohen, J.B. (2000) The Agrin\/MuSK signaling pathway is spatially segregated from the neuregulin\/ErbB receptor signaling pathway at the neuromuscular junction. J. Neurosci., 20, 8762\u20138770.","DOI":"10.1523\/JNEUROSCI.20-23-08762.2000"},{"key":"key\n\t\t\t\t20171012185207_DDH333C20","doi-asserted-by":"crossref","unstructured":"Tang, J., Jo, A.J., and Burden, S.J. (1994) Separate pathways for synapse-specific and electrical activity-dependent gene expression in skeletal muscle. Development, 120, 1799\u20131804.","DOI":"10.1242\/dev.120.7.1799"},{"key":"key\n\t\t\t\t20171012185207_DDH333C21","doi-asserted-by":"crossref","unstructured":"Fuhrer, C., Sugiyama, J.E., Taylor, R.G. and Hall, Z.W. (1997) Association of muscle-specific kinase MuSK with the acetylcholine receptor in mammalian muscle. EMBO J., 16, 4951\u20134960.","DOI":"10.1093\/emboj\/16.16.4951"},{"key":"key\n\t\t\t\t20171012185207_DDH333C22","doi-asserted-by":"crossref","unstructured":"Zhou, H., Glass, D.J., Yancopoulos, G.D. and Sanes, J.R. (1999) Distinct domains of MuSK mediate its abilities to induce and to associate with postsynaptic specializations. J. Cell Biol., 146, 1133\u20131146.","DOI":"10.1083\/jcb.146.5.1133"},{"key":"key\n\t\t\t\t20171012185207_DDH333C23","doi-asserted-by":"crossref","unstructured":"Kong, X.C., Barzaghi, P. and Ruegg, M.A. (2004) Inhibition of synapse assembly in mammalian muscle in vivo by RNA interference. EMBO Rep., 5, 1983\u20131988.","DOI":"10.1038\/sj.embor.7400065"},{"key":"key\n\t\t\t\t20171012185207_DDH333C24","doi-asserted-by":"crossref","unstructured":"Till, J.H., Becerra, M., Watty, A., Lu, Y., Ma, Y., Neubert, T.A., Burden, S.J. and Hubbard, S.R. (2002) Crystal structure of the MuSK tyrosine kinase: insights into receptor autoregulation. Structure, 10, 1187\u20131196.","DOI":"10.1016\/S0969-2126(02)00814-6"},{"key":"key\n\t\t\t\t20171012185207_DDH333C25","doi-asserted-by":"crossref","unstructured":"Burden, S.J. (2002) Building the vertebrate neuromuscular synapse. J. Neurobiol., 53, 501\u2013511.","DOI":"10.1002\/neu.10137"},{"key":"key\n\t\t\t\t20171012185207_DDH333C26","doi-asserted-by":"crossref","unstructured":"Tian, W.-H., Festoff, B.W., Blot, S., Diaz, J. and Hanta\u00ef, D. (1995) Synaptic transmission blockade increases plasminogen activator activity in mouse skeletal muscle poisoned with botulinum toxin type A. Synapse, 20, 24\u201332.","DOI":"10.1002\/syn.890200105"},{"key":"key\n\t\t\t\t20171012185207_DDH333C27","doi-asserted-by":"crossref","unstructured":"Carden, M.J., Trojanowski, J.Q., Schlaepfer, W.W. and Lee, V.M-Y. (1987) Two-stage expression of neurofilament polypeptides during rat neurogenesis with early establishment of adult phosphorylation patterns. J. Neurosci., 7, 3489\u20133504.","DOI":"10.1523\/JNEUROSCI.07-11-03489.1987"},{"key":"key\n\t\t\t\t20171012185207_DDH333C28","doi-asserted-by":"crossref","unstructured":"Julien, J.P. (1999) Neurofilament functions in health and disease. Curr. Opin. Neurobiol., 9, 554\u2013560.","DOI":"10.1016\/S0959-4388(99)00004-5"},{"key":"key\n\t\t\t\t20171012185207_DDH333C29","doi-asserted-by":"crossref","unstructured":"Koelle, G.B. and Friedenwald, J.S. (1949) A histological method for localization of cholinesterase activity. Proc. Soc. Exp. Biol. Med., 70, 617\u2013622.","DOI":"10.3181\/00379727-70-17013"},{"key":"key\n\t\t\t\t20171012185207_DDH333C30","doi-asserted-by":"crossref","unstructured":"Kunkel, T.A., Roberts, J.D. and Zakour, R.A. (1987) Rapid and efficient site-specific mutagenesis without phenotypic selection. Methods Enzymol., 154, 367\u2013382.","DOI":"10.1016\/0076-6879(87)54085-X"},{"key":"key\n\t\t\t\t20171012185207_DDH333C31","doi-asserted-by":"crossref","unstructured":"Mir, L.M., Bureau, M.F., Gehl, J., Rangara, R., Rouy, D., Caillaud, J.-M., Delaere, P., Branellec, D., Schwartz, B. and Scherman, D. (1999) High-efficiency gene transfer into skeletal muscle mediated by electric pulses. Proc. Natl Acad. Sci. USA, 96, 4262\u20134267.","DOI":"10.1073\/pnas.96.8.4262"},{"key":"key\n\t\t\t\t20171012185207_DDH333C32","doi-asserted-by":"crossref","unstructured":"Duclert, A., Savatier, N. and Changeux, J.P. (1993) A 83-nucleotide promoter of the acetylcholine receptor epsilon-subunit gene confers preferential synaptic expression in mouse muscle. Proc. Natl Acad. Sci. USA, 90, 3043\u20133047.","DOI":"10.1073\/pnas.90.7.3043"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/13\/24\/3229\/2090444\/ddh333.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,26]],"date-time":"2021-06-26T14:57:41Z","timestamp":1624719461000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/13\/24\/3229\/709088\/MUSK-a-new-target-for-mutations-causing-congenital"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,10,20]]},"references-count":32,"journal-issue":{"issue":"24","published-online":{"date-parts":[[2004,10,20]]},"published-print":{"date-parts":[[2004,12,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddh333","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published-other":{"date-parts":[[2004,12,15]]},"published":{"date-parts":[[2004,10,20]]}}}