المؤلفون: Craig M McDonald, Francesco Muntoni, Vinay Penematsa, Joel Jiang, Allan Kristensen, Francesco Bibbiani, Elizabeth Goodwin, Heather Gordish-Dressman, Lauren Morgenroth, Werner, Christian, James Li, Richard Able, Panayiota Trifillis, Már Tulinius, On behalf of the Study 019 & CINRG Duchenne Natural History Investigators

مصطلحات موضوعية: Neurology and neuromuscular diseases, ataluren, dystrophin, efficacy, loss of ambulation, nonsense mutation, Duchenne muscular dystrophy, respiratory function, Study 019

العلاقة: https://figshare.com/articles/journal_contribution/Plain_language_summary_Ataluren_delays_loss_of_ambulation_and_respiratory_decline_in_nonsense_mutation_Duchenne_muscular_dystrophy_patients/24962502Test

الإتاحة: https://doi.org/10.6084/m9.figshare.24962502.v1Test
https://figshare.com/articles/journal_contribution/Plain_language_summary_Ataluren_delays_loss_of_ambulation_and_respiratory_decline_in_nonsense_mutation_Duchenne_muscular_dystrophy_patients/24962502Test

المؤلفون: Eva Michael, Kalliopi Sofou, Lisa Wahlgren, Anna-Karin Kroksmark, Már Tulinius

المصدر: BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Duchenne muscular dystrophy, Ataluren treatment, Performance of upper limbs, Forced vital capacity, Long-term effect, Ambulatory vs non-ambulatory, Diseases of the musculoskeletal system, RC925-935

العلاقة: https://doi.org/10.1186/s12891-021-04700-zTest; https://doaj.org/toc/1471-2474Test; https://doaj.org/article/7eeef99fcc6b4c85a7b4e24eb1e55195Test

الإتاحة: https://doi.org/10.1186/s12891-021-04700-zTest
https://doaj.org/article/7eeef99fcc6b4c85a7b4e24eb1e55195Test

المؤلفون: Edward C Smith, Laurie S Conklin, Eric P Hoffman, Paula R Clemens, Jean K Mah, Richard S Finkel, Michela Guglieri, Mar Tulinius, Yoram Nevo, Monique M Ryan, Richard Webster, Diana Castro, Nancy L Kuntz, Laurie Kerchner, Lauren P Morgenroth, Adrienne Arrieta, Maya Shimony, Mark Jaros, Phil Shale, Heather Gordish-Dressman, Laura Hagerty, Utkarsh J Dang, Jesse M Damsker, Benjamin D Schwartz, Laurel J Mengle-Gaw, Craig M McDonald, CINRG VBP15 and DNHS Investigators

المصدر: PLoS Medicine, Vol 17, Iss 9, p e1003222 (2020)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1549-1277Test; https://doaj.org/toc/1549-1676Test

الوصول الحر: https://doaj.org/article/b45ccb68e7754878b721301c83d6bdc1Test

المؤلفون: Christopher R. Heier, Aiping Zhang, Nhu Y Nguyen, Christopher B. Tully, Aswini Panigrahi, Heather Gordish-Dressman, Sachchida Nand Pandey, Michela Guglieri, Monique M. Ryan, Paula R. Clemens, Mathula Thangarajh, Richard Webster, Edward C. Smith, Anne M. Connolly, Craig M. McDonald, Peter Karachunski, Mar Tulinius, Amy Harper, Jean K. Mah, Alyson A. Fiorillo, Yi-Wen Chen

المصدر: Journal of Personalized Medicine, Vol 10, Iss 236, p 236 (2020)

مصطلحات موضوعية: FSHD, biomarkers, miRNA, proteomics, calprotectin, dystrophy, Medicine

العلاقة: https://www.mdpi.com/2075-4426/10/4/236Test; https://doaj.org/toc/2075-4426Test; https://doaj.org/article/9f106ec2e0fc4c18a9e807bb0997faaeTest

الإتاحة: https://doi.org/10.3390/jpm10040236Test
https://doaj.org/article/9f106ec2e0fc4c18a9e807bb0997faaeTest

المؤلفون: Jonas Gillenstrand, Anne-Berit Ekström, Anna-Karin Kroksmark, Mar Tulinius, Malin Broberg

المصدر: Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

مصطلحات موضوعية: Neuropsychology and Physiological Psychology, Pediatrics, Perinatology and Child Health, Developmental and Educational Psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba0f5f450b43ad8ad5b85b34064addcTest
https://pubmed.ncbi.nlm.nih.gov/36444135Test

المؤلفون: John W. Day, Mar Tulinius, Alan Pestronk, Tina Duong, Tulio E. Bertorini, Alberto Dubrovsky, Nanette C. Joyce, Anne M. Connolly, Hanna Kolski, Lauren P. Morgenroth, Hoda Abdel-Hamid, Ksenija Gorni, Craig M. McDonald, Erik K Henricson, Erik Landfeldt, Yoram Nevo, Jose Carlo, Sherilyn W. Driscoll, Laura McAdam, S. Chidambaranathan, Paula R. Clemens, Avital Cnaan, Jean Teasley, W. Douglas Biggar, Joel Iff, Andrew J. Kornberg, Nancy L. Kuntz, E. Henricson, Jean K. Mah, Carolina Tesi-Rocha, Robert T. Leshner, Mathula Thangarajh, Richard D. Webster, V. Vishwanathan, Monique M. Ryan, John B. Bodensteiner, Timothy Lotze, Richard T. Abresch, Peter I. Karachunski

المصدر: Value Health

مصطلحات موضوعية: medicine.medical_specialty, Neuromuscular disease, Adolescent, Psychometrics, Duchenne muscular dystrophy, Population, Pediatrics, Article, Quality of life, Surveys and Questionnaires, medicine, Humans, Child, education, education.field_of_study, Rasch model, business.industry, Health Policy, Public Health, Environmental and Occupational Health, medicine.disease, Muscular Dystrophy, Duchenne, Child, Preschool, Quality of Life, Physical therapy, Patient-reported outcome, business, Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd36dd2d6151eb55eab84c122ed70a8Test
https://doi.org/10.1016/j.jval.2021.05.016Test

المؤلفون: Erin Neil Knierbein, Declan O'Rourke, Richard S. Finkel, Monique M. Ryan, Cuixia Tian, Craig M. McDonald, W. Bryan Burnette, Cam-Tu Emilie Nguyen, Han C. Phan, Erika Finanger, Katherine D. Mathews, H. Lee Sweeney, Jessica Nance, Hugh J. McMillan, Gary McCullagh, Jeffrey Statland, Kathryn R. Wagner, Michelle Eagle, Joanne M. Donovan, Jessika Johannsen, Warren Marks, James MacDougall, Maria Cecilia Mancini, Mar Tulinius, Kayal Vijayakumar, Wolfgang Müller-Felber

المصدر: Journal of Neuromuscular Diseases

مصطلحات موضوعية: 0301 basic medicine, Research Report, Duchenne muscular dystrophy, Male, medicine.medical_specialty, edasalonexent, Phases of clinical research, Administration, Oral, Subgroup analysis, Arachidonic Acids, Placebo, NF-κB, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Statistical significance, Internal medicine, NSAA - Total, Salicylamides, medicine, Humans, Adverse effect, Child, CAT-1004, business.industry, NF-kappa B, medicine.disease, Muscular Dystrophy, Duchenne, 030104 developmental biology, Neurology, Child, Preschool, Ambulatory, age effects, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef0de36feced883ff8135df9c9185fcTest
http://europepmc.org/articles/PMC8543277Test

المؤلفون: Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith, Iain Horrocks, Richard S. Finkel, Jean K. Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlova, Volker Straub, Laurel J. Mengle-Gaw, Benjamin D. Schwartz, Amy D. Harper, Perry B. Shieh, Liesbeth De Waele, Diana Castro, Michelle L. Yang, Monique M. Ryan, Craig M. McDonald, Mar Tulinius, Richard Webster, Hugh J. McMillan, Nancy L. Kuntz, Vashmi K. Rao, Giovanni Baranello, Stefan Spinty, Anne-Marie Childs, Annie M. Sbrocchi, Kathryn A. Selby, Migvis Monduy, Yoram Nevo, Juan J. Vilchez-Padilla, Andres Nascimento-Osorio, Erik H. Niks, Imelda J.M. de Groot, Marina Katsalouli, Meredith K. James, Johannes van den Anker, Jesse M. Damsker, Alexandra Ahmet, Leanne M. Ward, Mark Jaros, Phil Shale, Utkarsh J. Dang, Eric P. Hoffman

المصدر: JAMA Neurology, 79(10), 1005-1014. AMER MEDICAL ASSOC
Jama Neurology, 79, 10, pp. 1005-1014
Jama Neurology, 79, 1005-1014

مصطلحات موضوعية: Male, Science & Technology, Hydrocortisone, Clinical Neurology, Anti-Inflammatory Agents, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophy, Duchenne, Treatment Outcome, Adrenocorticotropic Hormone, Double-Blind Method, Adrenal Cortex Hormones, Child, Preschool, Quality of Life, Humans, Prednisone, Neurosciences & Neurology, Neurology (clinical), Life Sciences & Biomedicine, Biomarkers, Adrenal Insufficiency

وصف الملف: application/pdf; Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::725b0a040cb61b4b57e2cda4b26e1adfTest
http://hdl.handle.net/1887/3497485Test

المؤلفون: Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Damjan Osredkar, Thierry Adoukonou, Omid Aryani, Nina Barisic, Fahad Bashiri, Laila Bastaki, Afaf Benitto, Tawfeg Ben Omran, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Rose-Mary Boustani, Nina Butoianu, Claudia Castiglioni, Feriha Catibusic, Sophelia Chan, Yin Hsiu Chien, Kyproula Christodoulou, Donniphat Dejsuphong, Michelle Farrar, Duma Filip, Nathalie Goemans, Kokou Guinhouya, Jana Haberlova, Kinga Hadzsiev, Kristine Hovhannesyan, Pirjo Isohanni, Nelica Ivanovic Radovic, David Jacquier, Alusine Jalloh, Maria Jedrzejowska, Gwen Kandawasvika, Celestin Kaputu, Nfwama Kawatu, Kristin Kernohan, Jan Kirschner, Barbara Klink, Sherry Kodsy, Ange-Eric Kouame-Assouan, Ruzica Kravljanac, Madara Kreile, Ivan Litvinenko, Hugh McMillan, Sandra Mesa, Inaam Mohamed, Liljana Muaremoska Kanzoska, Yoram Nevo, Seraphin Nguefack, Kafula Nkole, Gina O'Grady, Declan O'Rourke, Maryam Oskoui, Flavia Piazzon, Dimitri Poddighe, Audrone Prasauskiene, Juan Prieto, Magnhild Rasmussen, Santara Razafindrasata, Narayan Saha, Kayoko Saito, Foksouna Sakadi, Modibo Sangare, Mary Schroth, Leanid Shalkevich, Andriy Shatillo, Renu Suthar, Lena Szabo, Nana Tatishvili, Meriem Tazir, Eduardo Tizzano, Haluk Topaloglu, Mar Tulinius, Ludo van der Pol, Gabriel Vazquez, Dimitry Vlodavets, Jithangi Wanigasinghe, Jo Wilmshurst, Hui Xiong, Dimitrios Zafeiriou, Eleni Zamba

المصدر: Neuromuscular Disorders. 31:574-582

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Context (language use), Disease, Muscular Atrophy, Spinal, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Surveys and Questionnaires, medicine, Screening method, Humans, Genetics (clinical), Newborn screening, business.industry, Infant, Newborn, food and beverages, Spinal muscular atrophy, medicine.disease, SMA, 030104 developmental biology, Neurology, Family medicine, embryonic structures, Pediatrics, Perinatology and Child Health, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4326212589673e2738fb522e0247b3f2Test
https://doi.org/10.1016/j.nmd.2021.03.007Test

المؤلفون: Erik Landfeldt, Rongrong Zhang, Anne-Marie Childs, Jessika Johannsen, Declan O'Rourke, Thomas Sejersen, Jurgis Strautmanis, Ulrike Schara-Schmidt, Mar Tulinius, Maggie C. Walter, Tracey Willis, Katharina Buesch

مصطلحات موضوعية: Muscular Dystrophy, Duchenne, Caregivers, Codon, Nonsense, Health Policy, Child, Preschool, Quality of Life, Medizin, Humans, Reproducibility of Results

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df498cba1b557df94ce1014737a46ca5Test
https://www.ncbi.nlm.nih.gov/pubmed/35642753Test