Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Már, Tulinius"'
Autor:
Maria Parasyri, Per Brandström, Johanna Uusimaa, Elsebet Ostergaard, Omar Hikmat, Pirjo Isohanni, Karin Naess, I.F.M. de Coo, Andrés Nascimento Osorio, Matti Nuutinen, Christopher Lindberg, Laurence A. Bindoff, Már Tulinius, Niklas Darin, Kalliopi Sofou
Publikováno v:
Kidney Diseases, Vol 8, Iss 2, Pp 137-148 (2022)
Aims: This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as well as predictors of renal disease severity and overall disease outcome. The secondary aim was to g
Externí odkaz:
https://doaj.org/article/3ee2e812910448329c59438092ef3013
Publikováno v:
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-10 (2021)
Abstract Introduction Ataluren is a relatively new treatment for male patients with Duchenne muscular dystrophy (DMD) due to a premature stop codon. Long-term longitudinal data as well as efficacy data on non-ambulant patients are still lacking. Here
Externí odkaz:
https://doaj.org/article/7eeef99fcc6b4c85a7b4e24eb1e55195
Autor:
Nathalie M Goemans, Már Tulinius, Marleen van den Hauwe, Anna-Karin Kroksmark, Gunnar Buyse, Rosamund J Wilson, Judith C van Deutekom, Sjef J de Kimpe, Afrodite Lourbakos, Giles Campion
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0161955 (2016)
BackgroundDrisapersen induces exon 51 skipping during dystrophin pre-mRNA splicing and allows synthesis of partially functional dystrophin in Duchenne muscular dystrophy (DMD) patients with amenable mutations.MethodsThis 188-week open-label extension
Externí odkaz:
https://doaj.org/article/3e55aff068e14473843a4a30a61a1672
Autor:
Perry B Shieh, Gary Elfring, Panayiota Trifillis, Claudio Santos, Stuart W Peltz, Julie A Parsons, Susan Apkon, Basil T Darras, Craig Campbell, Craig M McDonald, Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J. Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, Douglas M Sproule, H. Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Clemens Bloetzer, Russell J Butterfield, Jong-Hee Chae, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Peter Heydemann, Imelda Hughes, Anna Kaminska, Peter Karachunski, Martin Kudr, Timothy Lotze, Alexandra Prufer de Queiroz Campos Araujo, Maria Bernadete Dutra de Resende, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Lindsay N Alfano, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose
Publikováno v:
Paediatrics Publications
Aim: Compare efficacies of deflazacort and prednisone/prednisolone in providing clinically meaningful delays in loss of physical milestones in patients with nonsense mutation Duchenne muscular dystrophy. Materials & methods: Placebo data from Phase I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf
Autor:
Craig M McDonald, Francesco Muntoni, Vinay Penematsa, Joel Jiang, Allan Kristensen, Francesco Bibbiani, Elizabeth Goodwin, Heather Gordish-Dressman, Lauren Morgenroth, Christian Werner, James Li, Richard Able, Panayiota Trifillis, Már Tulinius, M Ryan, K Jones, N Goemans, C Campbell, JK Mah, K Selby, B Chabrol, Y Pereon, T Voit, T Gidaro, U Schara, JB Kirschner, Y Nevo, GP Comi, E Bertini, E Mercuri, J Colomer, A Nascimento, JJ Vilchez, M Tulinius, T Sejersen, F Muntoni, K Bushby, M Guglieri
Publikováno v:
Journal of Comparative Effectiveness Research
Aim: We investigated the effect of ataluren plus standard of care (SoC) on age at loss of ambulation (LoA) and respiratory decline in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) versus patients with DMD on SoC alone. Patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbb3f1627dca413773730a508656ed46
https://pubmed.ncbi.nlm.nih.gov/34791888
https://pubmed.ncbi.nlm.nih.gov/34791888
Autor:
Daniel Novak, Már Tulinius
Publikováno v:
American Journal of Educational Research. 3:594-598
The practice of evidence-based medicine (EBM) is important for medical students to master to optimize their future clinical decision-making and improve the quality of health care. The aim of this study was to explore Swedish final-year medical studen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::575ceaca78b445a3bc371d114eacf851
https://doi.org/10.12691/education-3-5-10
https://doi.org/10.12691/education-3-5-10
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). 101(8)
Distal arthrogryposis is characterized by congenital contractures predominantly in hands and feet. Mutations in sarcomeric protein genes are involved in several types of distal arthrogryposis. Our aim is to describe clinical and molecular genetic fin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c6b9d994b4835c84b11bb894f7cacfe8
https://pubmed.ncbi.nlm.nih.gov/22519952
https://pubmed.ncbi.nlm.nih.gov/22519952
Autor:
Ann-Charlott, Söderpalm, Per, Magnusson, Anne-Christine, Åhlander, Jón, Karlsson, Anna-Karin, Kroksmark, Már, Tulinius, Diana, Swolin-Eide
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). 101(4)
To investigate the longitudinal development of bone mass in patients with Duchenne and Becker muscular dystrophies and to study the impact of muscle strength and motor function on bone mass in these patients.Eighteen patients with Duchenne muscular d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::81f835b5102221493c8b9c7a3d0b884a
https://pubmed.ncbi.nlm.nih.gov/22103559
https://pubmed.ncbi.nlm.nih.gov/22103559
Autor:
Anders Oldfors, Már Tulinius
Publikováno v:
Handbook of clinical neurology. 86
Mitochondrial encephalomyopathies are diseases caused by defective oxidative phosphorylation (OXPHOS), and affect the nervous system and/or skeletal muscle. They have emerged as a major entity among the neurometabolic diseases of childhood with an in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9dee6c3e4e50dbbfbc302f24b050364
https://pubmed.ncbi.nlm.nih.gov/18808998
https://pubmed.ncbi.nlm.nih.gov/18808998
Autor:
Anders Oldfors, Már Tulinius
Publikováno v:
Handbook of Clinical Neurology ISBN: 9780444518996
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c344f8b0c312440e5c2949c72dbd1de6
https://doi.org/10.1016/s0072-9752(07)86006-4
https://doi.org/10.1016/s0072-9752(07)86006-4