Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Gisela Melcon"'
Autor:
Eric P. Hoffman, Aldobrando Broccolini, Gisela Melcon, Simone Di Giovanni, Annamaria Molon, Serenella Servidei, Massimiliano Mirabella
Publikováno v:
Annals of Neurology. 55:195-206
Acute quadriplegic myopathy (AQM; also called "critical illness myopathy") shows acute muscle wasting and weakness and is experienced by some patients with severe systemic illness, often associated with administration of corticosteroids and/or neurob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8374c28a0ad17c4096c20d0cee12b3bb
https://doi.org/10.1002/ana.10811
https://doi.org/10.1002/ana.10811
Autor:
Dedra A. Cutler, Gustavo A. Nader, Terry Sullivan, Eric P. Hoffman, Colin L. Stewart, Gisela Melcon, Marina Bakay, Lidia Hernandez, Stephanie J. Mitchell, Serguei Kozlov, Po Zhao, Jeffrey N. Rottman
Publikováno v:
Human molecular genetics. 15(4)
Emery-Dreifuss muscular dystrophy (EDMD1) is caused by mutations in either the X-linked gene emerin (EMD) or the autosomal lamin A/C (LMNA) gene. Here, we describe the derivation of mice lacking emerin in an attempt to derive a mouse model for EDMD1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4208d99594da17e61a64c25b2a171b2
https://pubmed.ncbi.nlm.nih.gov/16403804
https://pubmed.ncbi.nlm.nih.gov/16403804
Autor:
Lauren M. Pachman, Gisela Melcon, Jianhua Xuan, Louis Schiltz, Zuyi Wang, Elena Pegoraro, Po Zhao, Sara T. Winokur, Yitan Zhu, Eric P. Hoffman, Ben Shneiderman, Erynn Gordon, Diana M. Escolar, Corrado Angelini, Marina Bakay, Raul N. Mandler, Yue Wang, Jinwook Seo, Yoram Nevo, Chenguang Fan, Yibin Dong, Vittorio Sartorelli, Yi-Wen Chen
Mutations of lamin A/C (LMNA) cause a wide range of human disorders, including progeria, lipodystrophy, neuropathies and autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD). EDMD is also caused by X-linked recessive loss-of-function mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99824ccdfbc0c399c8116a8fe97ba53a
http://hdl.handle.net/11577/2432909
http://hdl.handle.net/11577/2432909
Autor:
Simone Di Giovanni, Annamaria Molon, Aldobrando Broccolini, Gisela Melcon, Massimiliano Mirabella, Eric P. Hoffman, Serenella Servidei
Publikováno v:
Annals of Neurology; Feb2004, Vol. 55 Issue 2, p195-206, 12p