Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Judith C van Deutekom"'
Publikováno v:
PLoS ONE, Vol 13, Iss 4, p e0195850 (2018)
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by progressive weakness of the skeletal and cardiac muscles. This X-linked disorder is caused by open reading frame disrupting mutations in the DMD gene, resulting in strong r
Externí odkaz:
https://doaj.org/article/63cdb3e024f542949e3e1d9757ace428
Autor:
Nathalie M Goemans, Már Tulinius, Marleen van den Hauwe, Anna-Karin Kroksmark, Gunnar Buyse, Rosamund J Wilson, Judith C van Deutekom, Sjef J de Kimpe, Afrodite Lourbakos, Giles Campion
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0161955 (2016)
BackgroundDrisapersen induces exon 51 skipping during dystrophin pre-mRNA splicing and allows synthesis of partially functional dystrophin in Duchenne muscular dystrophy (DMD) patients with amenable mutations.MethodsThis 188-week open-label extension
Externí odkaz:
https://doaj.org/article/3e55aff068e14473843a4a30a61a1672
Autor:
Chantal Beekman, Jessica A Sipkens, Janwillem Testerink, Stavros Giannakopoulos, Dyonne Kreuger, Judith C van Deutekom, Giles V Campion, Sjef J de Kimpe, Afrodite Lourbakos
Publikováno v:
PLoS ONE, Vol 9, Iss 9, p e107494 (2014)
Duchenne muscular dystrophy (DMD) is characterized by the absence or reduced levels of dystrophin expression on the inner surface of the sarcolemmal membrane of muscle fibers. Clinical development of therapeutic approaches aiming to increase dystroph
Externí odkaz:
https://doaj.org/article/cd13d08f1d8d4544abd4ec444d29d804
Autor:
Anna-Karin Kroksmark, G. Campion, Judith C. van Deutekom, Marleen Van den Hauwe, R. Wilson, Mar Tulinius, Nathalie Goemans, Afrodite Lourbakos, Sjef J. de Kimpe, Gunnar Buyse
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0161955 (2016)
PLoS ONE
PLoS ONE
BackgroundDrisapersen induces exon 51 skipping during dystrophin pre-mRNA splicing and allows synthesis of partially functional dystrophin in Duchenne muscular dystrophy (DMD) patients with amenable mutations.MethodsThis 188-week open-label extension