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Web Resource
Acta Paediatrica, ISSN 0803-5253, 02/2019, Volume 108, Issue 2, pp. 224 - 230
Aim Ataluren has been approved for treating nonsense mutation Duchenne muscular dystrophy (nmDMD), and there are currently discussions concerning drug access... 
Implementation model | Sweden | Ataluren | Treatment guidelines | Duchenne muscular dystrophy | SURVIVAL | DIAGNOSIS | DISORDERS | PEDIATRICS | NATURAL-HISTORY | Literature reviews | Drugs | Medical research | Intelligence | Nonsense mutation | Duchenne's muscular dystrophy | Medical services | Clinical trials | Dystrophy | Mutation | Epidemiology | Muscular dystrophy
Journal Article
by McDonald, Craig M and Campbell, Craig and Torricelli, Ricardo Erazo and Finkel, Richard S and Flanigan, Kevin M and Goemans, Nathalie and Heydemann, Peter and Kaminska, Anna and Kirschner, Janbernd and Muntoni, Francesco and Osorio, Andrés Nascimento and Schara, Ulrike and Sejersen, Thomas and Shieh, Perry B and Sweeney, H Lee and Topaloglu, Haluk and Tulinius, Már and Vilchez, Juan J and Voit, Thomas and Wong, Brenda and Elfring, Gary and Kroger, Hans and Luo, Xiaohui and McIntosh, Joseph and Ong, Tuyen and Riebling, Peter and Souza, Marcio and Spiegel, Robert J and Peltz, Stuart W and Mercuri, Eugenio and Alfano, Lindsay N and Eagle, Michelle and James, Meredith K and Lowes, Linda and Mayhew, Anna and Mazzone, Elena S and Nelson, Leslie and Rose, Kristy J and Abdel-Hamid, Hoda Z and Apkon, Susan D and Barohn, Richard J and Bertini, Enrico and Bloetzer, Clemens and de Vaud, Lausanne Canton and Butterfield, Russell J and Chabrol, Brigitte and Chae, Jong-Hee and Jongno-gu, Daehak-ro and Comi, Giacomi Pietro and Darras, Basil T and Dastgir, Jahannaz and Desguerre, Isabelle and Escobar, Raul G and Finanger, Erika and Guglieri, Michela and Hughes, Imelda and Iannaccone, Susan T and Jones, Kristi J and Karachunski, Peter and Kudr, Martin and Lotze, Timothy and Mah, Jean K and Mathews, Katherine and Nevo, Yoram and Parsons, Julie and Péréon, Yann and de Queiroz Campos Araujo, Alexandra Prufer and Renfroe, J Ben and de Resende, Maria Bernadete Dutra and Ryan, Monique and Selby, Kathryn and Tennekoon, Gihan and Vita, Giuseppe and Clinical Evaluator Training Grp and ACT DMD Study Grp and Clinical Evaluator Training Group and ACT DMD Study Group
The Lancet, ISSN 0140-6736, 09/2017, Volume 390, Issue 10101, pp. 1489 - 1498
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1396 - 14
Journal Article
Journal Article
Science, ISSN 0036-8075, 6/2005, Volume 308, Issue 5728, pp. 1599 - 1603
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 01/2018, Volume 22, Issue 1, pp. 128 - 134
Journal Article
Acta Pædiatrica, ISSN 0803-5253, 09/2009, Volume 98, Issue 9, pp. 1541 - 1541
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 3/2019, Volume 34, Issue 4, pp. 210 - 215
Objective: This study aims to assess the experiences and wishes of parents of children with severe spinal muscular atrophy regarding information and... 
neonatology | palliative care | SMA | pediatrics | end-of-life care | LIFE-LIMITING CONDITIONS | DEATH | END | PLACE | CLINICAL NEUROLOGY
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 2/2019, Volume 34, Issue 2, pp. 104 - 112
Background and aims: Children with severe spinal muscular atrophy have complex care needs due to progressive muscle weakness, eventually leading to respiratory... 
parental perception | neuromuscular disease | care coordination | spinal muscular atrophy | pediatric palliative care | health care professional | DIAGNOSIS | POPULATION | MANAGEMENT | CLINICAL NEUROLOGY | OF-LIFE | SHAM CONTROL | NUSINERSEN | EXPERIENCES | NATIONWIDE | PEDIATRICS | END | HEALTH
Journal Article