Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Florence Van Tienen"'
Autor:
Chloe Trayford, Alissa Wilhalm, Pamela Habibovic, Hubert Smeets, Florence van Tienen, Sabine van Rijt
Publikováno v:
Discover Nano, Vol 18, Iss 1, Pp 1-16 (2023)
Abstract Mutations in nuclear and mitochondrial genes are responsible for severe chronic disorders such as mitochondrial myopathies. Gene therapy using antisense oligonucleotides is a promising strategy to treat mitochondrial DNA (mtDNA) diseases by
Externí odkaz:
https://doaj.org/article/6b700379b3cc40748148803217c097a1
Autor:
Ruby Zelissen, Somaieh Ahmadian, Joaquin Montilla-Rojo, Erika Timmer, Monique Ummelen, Anton Hopman, Hubert Smeets, Florence van Tienen
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2679 (2023)
In 25% of patients with mitochondrial myopathies, pathogenic mitochondrial DNA (mtDNA) mutation are the cause. For heteroplasmic mtDNA mutations, symptoms manifest when the mutation load exceeds a tissue-specific threshold. Therefore, lowering the mu
Externí odkaz:
https://doaj.org/article/d0dff4ec6b4a437a94fdfb92657c1e81
Autor:
Florence van Tienen, Ruby Zelissen, Erika Timmer, Marike van Gisbergen, Patrick Lindsey, Mattia Quattrocelli, Maurilio Sampaolesi, Elvira Mulder-den Hartog, Irenaeus de Coo, Hubert Smeets
Publikováno v:
Stem Cell Research & Therapy, Vol 10, Iss 1, Pp 1-10 (2019)
Abstract Background Myopathy and exercise intolerance are prominent clinical features in carriers of a point-mutation or large-scale deletion in the mitochondrial DNA (mtDNA). In the majority of patients, the mtDNA mutation is heteroplasmic with vary
Externí odkaz:
https://doaj.org/article/71f1490be04044e4aaabbe33e24d3106
Autor:
Olivier Boyer, Gillian Butler-Browne, Hector Chinoy, Giulio Cossu, Francesco Galli, James B. Lilleker, Alessandro Magli, Vincent Mouly, Rita C. R. Perlingeiro, Stefano C. Previtali, Maurilio Sampaolesi, Hubert Smeets, Verena Schoewel-Wolf, Simone Spuler, Yvan Torrente, Florence Van Tienen, Study Group, H. Aldearee, A. Bisson, L. Bragg, V. Bridoux, R. Duelen, A. Farini, E. Gazzero, N. Giarratana, C. Giverne, L. Meggiolaro, E. Negroni, E. Porrello, R. Tonlorenzi, C. Villa, L. Yedigaryan, A. Zamboni
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
This article will review myogenic cell transplantation for congenital and acquired diseases of skeletal muscle. There are already a number of excellent reviews on this topic, but they are mostly focused on a specific disease, muscular dystrophies and
Externí odkaz:
https://doaj.org/article/e780aee03b7b42b9af7b9f07f3c2c35c
Autor:
Hubert J.M. Smeets, Bram Verbrugge, Pierre Springuel, Nicol C. Voermans, Giulio Cossu, René de Coo, Christos Diamantidis, Eric Dragendorf, Madeleine Durbeej-Hjalt, Gustavo Dziewczapolski, Corrie Erasmus, Reghan Foley, Sweta Girgenrath, Leonardo Zingler Herrero, Dwi Kemaladewi, Andrea Klein, Marie-Julie Lemmens, Lotte van de Loo, Stefano Previtali, Markus Ruegg, Adnan Abdulaziz Said, Maurilio Sampaolesi, Anna Sarkozy, Hemant Sawnani, Dirk Jan Stelwagen, Heleen Stelwagen, Haluk Topaloglu, Florence van Tienen, Peter Yurchenco, Teun van Zutphen
Publikováno v:
Neuromuscular Disorders, 31, 7, pp. 673-680
Neuromuscul Disord
Neuromuscular Disorders, 31, 673-680
Neuromuscular Disorders, 31(7), 673-680. Elsevier Science
Neuromuscul Disord
Neuromuscular Disorders, 31, 673-680
Neuromuscular Disorders, 31(7), 673-680. Elsevier Science
Contains fulltext : 236903.pdf (Publisher’s version ) (Closed access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ead2139118facb2b6f3bd879c7e524de
https://repository.ubn.ru.nl/handle/2066/236903
https://repository.ubn.ru.nl/handle/2066/236903