Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Zandra Körner"'
Autor:
Zandra Körner, Madeleine Durbeej
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0146471 (2016)
Congenital muscular dystrophy with laminin α2 chain-deficiency, also known as MDC1A, is a severe neuromuscular disorder for which there is no cure. Patients with complete laminin α2 chain-deficiency typically have an early onset disease with a more
Externí odkaz:
https://doaj.org/article/f9f5a836573c444faf9f56f249149acf
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-17 (2019)
Scientific Reports
Scientific Reports
Deficiency of laminin α2 chain leads to a severe form of congenital muscular dystrophy (LAMA2-CMD), and dystrophic symptoms progress rapidly in early childhood. Currently, there is no treatment for this detrimental disorder. Development of therapies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c905f3be654dc3176d34680fd5c042e
http://link.springer.com/article/10.1038/s41598-019-50550-0
http://link.springer.com/article/10.1038/s41598-019-50550-0
Autor:
Zandra Körner, Madeleine Durbeej, Bernardo Moreira Soares Oliveira, Cibely C. Fontes-Oliveira, Vahid M. Harandi
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-15 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-15 (2018)
Congenital muscular dystrophy with laminin α2 chain-deficiency (LAMA2-CMD) is a severe muscle disorder with complex underlying pathogenesis. We have previously employed profiling techniques to elucidate molecular patterns and demonstrated significan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07ca2b21ab82da0cca7786c50eef8492
http://europepmc.org/articles/PMC6214987
http://europepmc.org/articles/PMC6214987
Autor:
Virginie Carmignac, Zandra Körner, Madeleine Durbeej, Johan Holmberg, Cibely C. Fontes-Oliveira
Publikováno v:
The American Journal of Pathology. 184:1518-1528
Congenital muscular dystrophy, caused by mutations in LAMA2 (the gene encoding laminin α2 chain), is a severe and incapacitating disease for which no therapy is yet available. We have recently demonstrated that proteasome activity is increased in la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be477aec2cef4c174ace7e1e34533aa0
https://doi.org/10.1016/j.ajpath.2014.01.019
https://doi.org/10.1016/j.ajpath.2014.01.019
Autor:
Madeleine Durbeej, Zandra Körner
Publikováno v:
PLoS ONE
PLoS ONE, Vol 11, Iss 1, p e0146471 (2016)
PLoS ONE, Vol 11, Iss 1, p e0146471 (2016)
Congenital muscular dystrophy with laminin α2 chain-deficiency, also known as MDC1A, is a severe neuromuscular disorder for which there is no cure. Patients with complete laminin α2 chain-deficiency typically have an early onset disease with a more
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf534ebccb8851fc68fb296a6afa4cac
https://pubmed.ncbi.nlm.nih.gov/26731667
https://pubmed.ncbi.nlm.nih.gov/26731667
Autor:
Madeleine Durbeej, Cintia Yuri Matsumura, Kinga I. Gawlik, Martina Svensson, Linda Elowsson, Zandra Körner, Virginie Carmignac, Valérie Allamand
Publikováno v:
Human molecular genetics. 20(24)
Congenital muscular dystrophy caused by laminin α2 chain deficiency (also known as MDC1A) is a severe and incapacitating disease, characterized by massive muscle wasting. The ubiquitin-proteasome system plays a major role in muscle wasting and we re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c752c12602210ed73920e97806bf112
https://pubmed.ncbi.nlm.nih.gov/21920942
https://pubmed.ncbi.nlm.nih.gov/21920942