Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Nisha Verwey"'
Publikováno v:
RNA Biology, Vol 20, Iss 1, Pp 693-702 (2023)
Mutations in the DMD gene are causative for Duchenne muscular dystrophy (DMD). Antisense oligonucleotide (AON) mediated exon skipping to restore disrupted dystrophin reading frame is a therapeutic approach that allows production of a shorter but func
Externí odkaz:
https://doaj.org/article/24bc75579f454439b33a70bce5092238
Autor:
Mirko Signorelli, Mitra Ebrahimpoor, Olga Veth, Kristina Hettne, Nisha Verwey, Raquel García‐Rodríguez, Christa L Tanganyika‐deWinter, Luz B Lopez Hernandez, Rosa Escobar Cedillo, Benjamín Gómez Díaz, Olafur T Magnusson, Hailiang Mei, Roula Tsonaka, Annemieke Aartsma‐Rus, Pietro Spitali
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 4, Pp n/a-n/a (2021)
Abstract DMD is a rare disorder characterized by progressive muscle degeneration and premature death. Therapy development is delayed by difficulties to monitor efficacy non‐invasively in clinical trials. In this study, we used RNA‐sequencing to d
Externí odkaz:
https://doaj.org/article/ece83370f1b449858b7ecf64cf32618c
Autor:
Nienke M. van de Velde, Zaïda Koeks, Mirko Signorelli, Nisha Verwey, Maurice Overzier, Jaap A. Bakker, Gautam Sajeev, James Signorovitch, Valeria Ricotti, Jan Verschuuren, Kristy Brown, Pietro Spitali, Erik H. Niks
Publikováno v:
Neurology, 100(9), E975-E984. LIPPINCOTT WILLIAMS & WILKINS
Neurology
Neurology
Background and ObjectivesThe slow and variable disease progression of Becker muscular dystrophy (BMD) urges the development of biomarkers to facilitate clinical trials. We explored changes in 3 muscle-enriched biomarkers in serum of patients with BMD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a57db93bedb6271d9c761dcf773bd2
https://hdl.handle.net/1887/3590525
https://hdl.handle.net/1887/3590525
Mutations in theDMDgene are causative for Duchenne muscular dystrophy (DMD). Antisense oligonucleotide (AON) mediated exon skipping to restore disrupted dystrophin reading frame is a therapeutic approach that allows production of a shorter but functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8df8d9d47aa44881400db64e6068d26
https://doi.org/10.1101/2022.10.28.514237
https://doi.org/10.1101/2022.10.28.514237
Autor:
Kamel Mamchaoui, Sabine Krause, Vincent Mouly, Nisha Verwey, Annemieke Aartsma-Rus, Isabella Gazzoli
Publikováno v:
Nucleic Acid Therapeutics, 30(2), 71-79. MARY ANN LIEBERT, INC
Nucleic Acid Therapeutics
Nucleic Acid Therapeutics, Mary Ann Liebert, Inc. publishers, 2020, 30 (2), pp.71-79. ⟨10.1089/nat.2019.0788⟩
Nucleic Acid Therapeutics
Nucleic Acid Therapeutics, Mary Ann Liebert, Inc. publishers, 2020, 30 (2), pp.71-79. ⟨10.1089/nat.2019.0788⟩
Dysferlinopathies encompass a spectrum of progressive muscular dystrophies caused by the lack of dysferlin due to missense mutations in the dysferlin gene or mutations causing premature truncation of protein translation. Dysferlin is a modular protei
Autor:
Olafur T. Magnusson, Olga Veth, Mitra Ebrahimpoor, Mirko Signorelli, Luz B Lopez Hernandez, Christa L Tanganyika-deWinter, Kristina Hettne, Nisha Verwey, Annemieke Aartsma-Rus, Roula Tsonaka, Pietro Spitali, Benjamín Gómez Díaz, Hailiang Mei, Raquel García-Rodríguez, Rosa Escobar Cedillo
Publikováno v:
EMBO Molecular Medicine
EMBO Molecular Medicine, 13(4). WILEY
EMBO Molecular Medicine, Vol 13, Iss 4, Pp n/a-n/a (2021)
EMBO Molecular Medicine, 13(4). WILEY
EMBO Molecular Medicine, Vol 13, Iss 4, Pp n/a-n/a (2021)
DMD is a rare disorder characterized by progressive muscle degeneration and premature death. Therapy development is delayed by difficulties to monitor efficacy non‐invasively in clinical trials. In this study, we used RNA‐sequencing to describe t
Autor:
Wibowo Arindrarto, Rob G H H Nelissen, Arjen Kolk, Niels Kuipers Groosjohan, Jochem Nagels, Jan Ferdinand Henseler, Vered Raz, Szymon M. Kielbasa, Nisha Verwey, Peter A C 't Hoen, Zuotian Tatum, Yotam Raz
Publikováno v:
Oncotarget, 7(8), 8513-8523
Oncotarget, 23(7), 8513-8523
Oncotarget
Oncotarget, 23(7), 8513-8523
Oncotarget
Chronic muscle diseases are highly prevalent in the elderly causing severe mobility limitations, pain and frailty. The intrinsic molecular mechanisms are poorly understood due to multifactorial causes, slow progression with age and variations between
Autor:
Nisha Verwey, Yotam Raz, Vered Raz, Seyed Yahya Anvar, Silvère M. van der Maarel, Annemieke Aartsma-Rus, Hellen Buijze
Publikováno v:
American Journal of Pathology, 184(4), 1119-1131
Alanine expansion mutations in poly(A)-binding protein nuclear 1 (PABPN1) cause muscle weakness in the late-onset disorder oculopharyngeal muscular dystrophy. In affected muscles, expanded PABPN1 forms nuclear aggregates, depleting levels of soluble
Autor:
Andrea Venema, Jelle J. Goeman, Nisha Verwey, Peter A C 't Hoen, Barbara M. van der Sluijs, Vered Raz, Yotam Raz, Seyed Yahya Anvar, John Vissing, Baziel G.M. van Engelen, Silvère M. van der Maarel
Publikováno v:
Aging (Albany, N.Y.), 5, 412-26
Aging (Albany, N.Y.), 5, 6, pp. 412-26
ResearcherID
Aging (Albany NY)
Aging, 5(6), 412-426
Aging (Albany, N.Y.), 5, 6, pp. 412-26
ResearcherID
Aging (Albany NY)
Aging, 5(6), 412-426
Item does not contain fulltext Oculopharyngeal muscular dystrophy (OPMD) is caused by trinucleotide repeat expansion mutations in Poly(A) binding protein 1 (PABPN1). PABPN1 is a regulator of mRNA stability and is ubiquitously expressed. Here we inves
Autor:
Irina, Pulyakhina, Isabella, Gazzoli, Peter A C, 't Hoen, Nisha, Verwey, Johan T, den Dunnen, Johan, den Dunnen, Annemieke, Aartsma-Rus, Jeroen F J, Laros
Publikováno v:
Nucleic Acids Research, 43(12)
Nucleic Acids Research
Nucleic Acids Research
Alternative splicing is a powerful mechanism present in eukaryotic cells to obtain a wide range of transcripts and protein isoforms from a relatively small number of genes. The mechanisms regulating (alternative) splicing and the paradigm of consecut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::350b84778e112b3bb93213c33525e4bd
http://hdl.handle.net/1887/105452
http://hdl.handle.net/1887/105452