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of 4
pro vyhledávání: '"Ingrid E C Verhaart"'
Autor:
Ingrid E C Verhaart, Davy van de Vijver, Joke W Boertje-van der Meulen, Kayleigh Putker, Kevin Adamzek, Annemieke Aartsma-Rus, Maaike van Putten
Publikováno v:
PLoS ONE, Vol 14, Iss 4, p e0215335 (2019)
Duchenne muscular dystrophy (DMD) is caused by a lack of dystrophin protein. Next to direct effects on the muscles, this has also metabolic consequences. The influence of nutrition on disease progression becomes more and more recognized. Protein inta
Externí odkaz:
https://doaj.org/article/9a18d6d5c0764be7a351ceaae4d9910b
Autor:
Ingrid E C Verhaart, Kayleigh Putker, Davy van de Vijver, Christa L Tanganyika-de Winter, Svetlana Pasteuning-Vuhman, Jaap J Plomp, Annemieke M Aartsma-Rus, Maaike van Putten
Publikováno v:
PLoS ONE, Vol 14, Iss 8, p e0220665 (2019)
Limb girdle muscular dystrophy (LGMD) types 2D and 2F are caused by mutations in the genes encoding for α- and δ-sarcoglycan, respectively, leading to progressive muscle weakness. Mouse models exist for LGMD2D (Sgca-/-) and 2F (Sgcd-/-). In a previ
Externí odkaz:
https://doaj.org/article/40a6408fd6e54184a8b5254e77001dd5
Autor:
Ingrid E C Verhaart, Laura van Vliet-van den Dool, Jessica A Sipkens, Sjef J de Kimpe, Ingrid G M Kolfschoten, Judith C T van Deutekom, Lia Liefaard, Jim E Ridings, Steve R Hood, Annemieke Aartsma-Rus
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 3, Iss C (2014)
Antisense-mediated exon skipping is currently in clinical development for Duchenne muscular dystrophy (DMD) to amend the consequences of the underlying genetic defect and restore dystrophin expression. Due to turnover of compound, transcript, and pro
Externí odkaz:
https://doaj.org/article/381c115381eb4ba695493ef95aa99b17
Autor:
Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-15 (2017)
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::29481bbd91a2865ce09b5e1675e16e34
http://link.springer.com/article/10.1186/s13023-017-0671-8
http://link.springer.com/article/10.1186/s13023-017-0671-8