Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay

Autor: J.C. van den Bergen, Anneke A.M. Janson, Zaïda Koeks, Jan J.G.M. Verschuuren, Melissa T. Hooijmans, Pietro Spitali, Iris Alleman, C. Beekman, E. H. Niks, N. A. Datson, Mirko Signorelli, H.A. van Duyvenvoorde, I. M. Hegeman, J. C. v. Deutekom

Publikováno v: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Scientific Reports, 11(1). NATURE RESEARCH
Scientific reports, 11(1):5952. Nature Publishing Group

Becker muscular dystrophy (BMD) is the milder allelic variant of Duchenne muscular dystrophy, with higher dystrophin levels. To anticipate on results of interventions targeting dystrophin expression it is important to know the natural variation of dy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6f2abccccac3da78faff9950f627c61
https://pubmed.ncbi.nlm.nih.gov/33723284

Determinants of Gliadin-Specific T Cell Selection in Celiac Disease

Autor: David Price, Hugh H. Reid, James E. McLaren, Jan Petersen, Yvonne Kooy-Winkelaar, Kristin Ladell, Allan Thompson, Khai Lee Loh, Frits Koning, Chris J. J. Mulder, Dennis X. Beringer, Sjoerd F. Bakker, J.C. van den Bergen, Jamie Rossjohn

Publikováno v: Journal of Immunology, 194(12), 6112-6122. American Association of Immunologists
Journal of Immunology, 194(12), 6112-6122
Petersen, J, van Bergen, J, Loh, K L, Kooy-Winkelaar, Y, Beringer, D X, Thompson, A, Bakker, S F, Mulder, C J J, Ladell, K, McLaren, J E, Price, D A, Rossjohn, J, Reid, H H & Koning, F 2015, ' Determinants of Gliadin-Specific T Cell Selection in Celiac Disease ', Journal of Immunology, vol. 194, no. 12, pp. 6112-6122 . https://doi.org/10.4049/jimmunol.1500161

In HLA-DQ8–associated celiac disease (CD), the pathogenic T cell response is directed toward an immunodominant α-gliadin–derived peptide (DQ8-glia-α1). However, our knowledge of TCR gene usage within the primary intestinal tissue of HLA-DQ8+ CD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f5f647d16cb9e24e105a6db33fd3ef2
https://doi.org/10.4049/jimmunol.1500161

Prolonged Ambulation in Duchenne Patients with a Mutation Amenable to Exon 44 Skipping

Autor: Jan J.G.M. Verschuuren, Annemieke Aartsma-Rus, H.B. Ginjaar, J.C. van den Bergen, Erik H. Niks

Publikováno v: Journal of Neuromuscular Diseases. 1:91-94

Duchenne muscular dystrophy has a severe disease course, though variability exists. Case reports suggest a milder disease course of patients amenable to exon 44 skipping. In this study, we analyzed this and show that age at wheelchair dependence in p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::01cbedfefd0c75189686a856a7ec4a41
https://doi.org/10.3233/jnd-140002

Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity

Autor: Margriet Hulsker, Annemieke Aartsma-Rus, B.H.A. Wokke, Jan J.G.M. Verschuuren, J.C. van den Bergen

Publikováno v: Neuromuscular Disorders, 25(3), 231-237

Becker muscular dystrophy is characterized by a variable disease course. Many factors have been implicated to contribute to this diversity, among which the expression of several components of the dystrophin associated glycoprotein complex. Together w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::822b30943387fbc7198ab2d6c05928ef
https://pubmed.ncbi.nlm.nih.gov/26004424

Reliability of the walking energy cost test and the six-minute walk test in boys with Duchenne muscular dystrophy

Autor: Merel-Anne Brehm, I.J.M. de Groot, Erik H. Niks, J.C.E. Kempen, Jan J.G.M. Verschuuren, J.C. van den Bergen, Jaap Harlaar, A. J. van der Kooi

Publikováno v: Neuromuscular Disorders, 24(3), 216-221. Elsevier Limited
Neuromuscular disorders, 24(3), 216-221. Elsevier Limited
Kempen, J C E, Harlaar, J, van der Kooi, A, de Groot, I, van Bergen, J, Niks, E, Verschuuren, J & Brehm, M A 2014, ' Reliability of the walking energy cost test and the six-minute walk test in boys with Duchenne muscular dystrophy ', Neuromuscular Disorders, vol. 24, no. 3, pp. 216-221 . https://doi.org/10.1016/j.nmd.2013.11.015
Neuromuscular Disorders, 24, 216-21
Neuromuscular Disorders, 24(3), 216-221
Neuromuscular Disorders, 24, 3, pp. 216-21

Item does not contain fulltext The walking energy cost test (WECT) is a useful tool when measuring ambulatory function in children with motor disorders. However, data on the reliability of this test in Duchenne muscular dystrophy (DMD) is not availab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7b2906373e8eaba5e6cf623763ed52d
https://research.vu.nl/en/publications/da36fec1-a07c-4036-8f72-a8fa45378660