Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

Autor: Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa

Publikováno v: PLoS ONE, Vol 6, Iss 12, p e29061 (2011)

BackgroundDysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a prima

Externí odkaz: https://doaj.org/article/a2790daf220b462ebf310415059896be

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York

Autor: Robert Griggs, Mauro Monforte, Daniel Miller, Stephen Tapscott, Pietro Spitali, Sabrina SACCONI, Giorgio Tasca, Katherine Mathews, Enzo RICCI, Silvère Van der Maarel

Publikováno v: Neuromuscular Disorders, 26, 2, pp. 181-6
Neuromuscular Disorders, 26(2), 181-186
Neuromuscular Disorders, 26, 181-6

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York Rabi Tawil *, George W. Padberg , Dennis W. Shaw , Silvere M. van der Maarel , Stephen J. Taps

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b460dd22fbb565781963f32a733464a
https://doi.org/10.1016/j.nmd.2015.10.005

ProteomeBinders: planning a European resource of affinity reagents for analysis of the human proteome

Autor: Michael J, Taussig, Oda, Stoevesandt, Carl A K, Borrebaeck, Andrew R, Bradbury, Dolores, Cahill, Christian, Cambillau, Antoine, de Daruvar, Stefan, Dübel, Jutta, Eichler, Ronald, Frank, Toby J, Gibson, David, Gloriam, Larry, Gold, Friedrich W, Herberg, Henning, Hermjakob, Jörg D, Hoheisel, Thomas O, Joos, Olli, Kallioniemi, Manfred, Koegl, Manfred, Koegll, Zoltán, Konthur, Bernhard, Korn, Elisabeth, Kremmer, Sylvia, Krobitsch, Ulf, Landegren, Silvère, van der Maarel, John, McCafferty, Serge, Muyldermans, Per-Ake, Nygren, Sandrine, Palcy, Andreas, Plückthun, Bojan, Polic, Michael, Przybylski, Petri, Saviranta, Alan, Sawyer, David J, Sherman, Arne, Skerra, Markus, Templin, Marius, Ueffing, Mathias, Uhlén

Publikováno v: Nature Methods
Nature Methods, Nature Publishing Group, 2007, 4, pp.13-17. ⟨10.1038/nmeth0107-13⟩
Taussig, M J, Stoevesandt, O, Borrebaeck, C A K, Kallioniemi, O, Saviranta, P & authors, E A 2007, ' ProteomeBinders : Planning a European resource of affinity reagents for analysis of the human proteome ', Nature Methods, vol. 4, pp. 13-17 . https://doi.org/10.1038/nmeth0107-13
Nature Methods, 2007, 4, pp.13-17. ⟨10.1038/nmeth0107-13⟩

ProteomeBinders is a new European consortium aiming to establish a comprehensive resource of well-characterized affinity reagents, including but not limited to antibodies, for analysis of the human proteome. Given the huge diversity of the proteome,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb2215f41e15937cacaffe2d86bcec98
https://hal.archives-ouvertes.fr/hal-00306585

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

Autor: Gp, Dijk, van der Kooi E, Behin A, Smeets J, Timmermans J, Silvère van der Maarel, Padberg G, Voermans N, van Engelen B

Publikováno v: ResearcherID
Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2e00155d67e55a315ccf132ef6a7de3a
http://europepmc.org/abstract/med/25473735

Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies

Autor: Jm, Statland, Kj, Odrzywolski, Shah B, Henderson D, Af, Fricke, Silvère van der Maarel, Sj, Tapscott, Tawil R

Publikováno v: ResearcherID
Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d9174863e35bd9ca93a52eacae974e9f
http://europepmc.org/abstract/med/26345300