Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Maria Jose Escriva"'
Autor:
Tiziana Mongini, Joseph M. Devaney, Elena Pegoraro, Richard F. Mayer, Christoph Fahlke, Michael J. Giuliani, Aisling M. Ryan, Fen Fen Wu, Maike Warnstedt, Kevin J. Felice, Laura Palmucci, Michael A. Marino, Maria Jose Escriva, Reinhardt Rüdel, Eric P. Hoffman, Zeljka Korade-Mirnics, Barbara Poser, Audrey S. Yee
Publikováno v:
Brain. 125:2392-2407
Myotonia is a condition characterized by impaired relaxation of muscle following sudden forceful contraction. We systematically screened all 23 exons of the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients. Si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::324e00781cc35f86a47aeb28cb30109a
https://doi.org/10.1093/brain/awf246
https://doi.org/10.1093/brain/awf246
Autor:
Maria Jose Escriva, Marijke Van Ghelue, Maike Warnstedt, T. Torbergsen, Lisbeth Tranebjærg, Chen Sun, Christoph Fahlke, Barbara Poser
Publikováno v:
The Journal of Neuroscience. 22:7462-7470
Mutations in the muscle chloride channel gene CLCN1 cause myotonia congenita, an inherited disorder of skeletal muscle excitability leading to a delayed relaxation after muscle contraction. Here, we examine the functional consequences of a novel dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e896f3ce8e2c8265657b33fd638bd854
https://doi.org/10.1523/jneurosci.22-17-07462.2002
https://doi.org/10.1523/jneurosci.22-17-07462.2002