المؤلفون: Mirko Signorelli, Burcu Ayoglu, Camilla Johansson, Hanns Lochmüller, Volker Straub, Francesco Muntoni, Erik Niks, Roula Tsonaka, Anja Persson, Annemieke Aartsma‐Rus, Peter Nilsson, Cristina Al‐Khalili Szigyarto, Pietro Spitali

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 11, Iss 2, Pp 505-517 (2020)

مصطلحات موضوعية: Duchenne muscular dystrophy, Protein biomarkers, Prognostic biomarker, Rare diseases, Serum biomarkers, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2190-5991; https://doaj.org/toc/2190-6009

URL الوصول: https://doaj.org/article/279f86f1eb524b11a1cf2dcdaf841012

المؤلفون: Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri, on behalf on the International DMD Group and the iMDEX Consortium

المصدر: PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/be2f7562560244a9a2a56400fc1fd6e8

المؤلفون: Anna Sarkozy, Rosaline Quinlivan, John P. Bourke, Alessandra Ferlini, Inès Barthélémy, Linda H Cripe, Emily Reuben, Teresinha Evangelista, Anca Florian, Josh Gribnau, Lidia Gonzalez-Quereda, Michela Guglieri, Erik Niks, Rahul Phadke, Luisa Politano, Ros Quinlivan, John Vissing, Nicol Voermans, Elizabeth Vroom, Aleksandra Pietrusz, Fernanda Fortunato, Saskia Houwen

المساهمون: Developmental Biology

المصدر: Neuromuscular Disorders, 33, 3, pp. 274-284
Neuromuscular Disorders, 33(3), 274-284. Elsevier Ltd.
Neuromuscular Disorders, 33, 274-284

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69bd2696a88b88f3d6bd19b8d6ad2ac1
https://doi.org/10.1016/j.nmd.2023.01.003

المؤلفون: Camilla Johansson, Helian Hunt, Mirko Signorelli, Fredrik Edfors, Andreas Hober, Anne-Sophie Svensson, Hanna Tegel, Björn Forstström, Annemieke Aartsma-Rus, Erik Niks, Pietro Spitali, Mathias Uhlén, Cristina Al-Khalili Szigyarto

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5cb672e9c3af49befb6244d885e65dea
https://doi.org/10.21203/rs.3.rs-2285032/v1

المؤلفون: Nienke M. Van de Velde, Jurriaan De Groot, Erik Niks, Melissa Hooijmans, Thom Veeger, Kevin Keene, Andrew Webb, Hermien Kan

المساهمون: Radiology and Nuclear Medicine, AMS - Ageing & Vitality, AMS - Sports

المصدر: NMR in Biomedicine, 35(7). WILEY
NMR in biomedicine, 35(7):e4691. John Wiley and Sons Ltd

مصطلحات موضوعية: Adult, MRS, Magnetic Resonance Imaging, muscle degeneration/disease progression, Muscular Dystrophy, Duchenne, Adenosine Triphosphate, Adipose Tissue, Dixon, Disease Progression, Humans, Molecular Medicine, Dixon, mixed-effects model, MRI, MRS, muscle degeneration/disease progression, Radiology, Nuclear Medicine and imaging, Muscle, Skeletal, mixed-effects model, Spectroscopy, MRI

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82260761046e46703156a090db8abb84
http://hdl.handle.net/1887/3276366

المؤلفون: Victor, Ronald G, Sweeney, H. Lee, Finkel, Richard, Mcdonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M. Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox, David, Hoda, Abdel-Hamid, Susan, Apkon, Richard, Barohn, Elena, Belousova, Enrico, Bertini, John, Brandsema, Claudio, Bruno, William, Burnette, Russell, Butterfield, Barry, Byrne, Craig, Campbell, Jose, Carlo, Jong-Hee, Chae, Saleel, Chandratre, Giacomo, Comi, Anne, Connolly, Imelda De Groot, Nicolas, Deconinck, Joseph, Dooley, Alberto, Dubrovsky, Julien, Durigneux, Erika, Finanger, Richard, Finkel, L Matthew Frank, Nathalie, Goemans, Amy, Harper, Ayako, Hattori, Ozlem, Herguner, Susan, Iannaccone, Joanne, Janas, Yuh-Jyh, Jong, Janberd, Kirschner, Hirofumi, Komaki, Nancy, Kuntz, Wang-Tso, Lee, Edward, Leung, Jean, Mah, Katherine, Mathews, Craig, Mcdonald, Eugenio, Mercuri, Hugh, Mcmillan, Wolfgang, Mueller-Felber, Adolfo Lopez de Munain, Akinori, Nakamura, Erik, Niks, Katsuhisa, Ogata, Samuel, Pascual, Pegoraro, Elena, Yann, Pereon, Ben, Renfroe, Ratna Bhavaraju Sanka, Jens, Schallner, Ulrike, Schara, Kathryn, Selby, Isabel Illa Sendra, Laurent, Servais, Edward, Smith, Susan, Sparks, Haluk, Topaloglu, Ron, Victor, Juan Jose Vilchez, Matthew, Wicklund, Ekkehard, Wilichoswki, Brenda, Wong

المساهمون: L, Servais., Çocuk Sağlığı ve Hastalıkları, Schara, Ulrike (Beitragende*r)

المصدر: Neurology, vol 89, iss 17
Neurology
Neurology, 89(17), 1811-1820
Neurology, 89 (17

مصطلحات موضوعية: 0301 basic medicine, Male, Duchenne muscular dystrophy, Vasodilator Agents, International Cooperation, Left, Medizin, Placebo-controlled study, Walking, Ventricular Function, Left, law.invention, Pulmonary function testing, Tadalafil, Efficacy, 0302 clinical medicine, Randomized controlled trial, law, Heart Rate, Ventricular Function, Muscular Dystrophy, Child, Pediatric, Sciences bio-médicales et agricoles, 3. Good health, Respiratory Function Tests, Treatment Outcome, Area Under Curve, 6.1 Pharmaceuticals, Ambulatory, Cognitive Sciences, Walking -- physiology, Drug, medicine.drug, musculoskeletal diseases, Duchenne/ Becker Muscular Dystrophy, medicine.medical_specialty, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Trials and Supportive Activities, Clinical Sciences, Vasodilator Agents -- therapeutic use, Tadalafil -- therapeutic use, Placebo, Article, Dose-Response Relationship, 03 medical and health sciences, Rare Diseases, Double-Blind Method, Clinical Research, Internal medicine, medicine, Heart Rate -- physiology, Humans, Glucocorticoids, Neurology & Neurosurgery, Dose-Response Relationship, Drug, business.industry, Neurosciences, Evaluation of treatments and therapeutic interventions, medicine.disease, Duchenne, Glucocorticoids -- therapeutic use, Tadalafil DMD Study Group, Brain Disorders, Muscular Dystrophy, Duchenne, 030104 developmental biology, Musculoskeletal, Muscular Dystrophy, Duchenne -- drug therapy -- psychology, Quality of Life, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf; Print-Electronic; text/plain; 2 full-text file(s): application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0e6503a882dfb553f43c58e0475c30
https://ora.ox.ac.uk/objects/uuid:07acefc6-f3c1-43d6-aaff-dd314f53221c

المؤلفون: Pinki Munot, Stephanie A. Robb, Erik H. Niks, Jacqueline Palace, Erik Niks, Stephanie Robb, Amelia Evoli, Andrea Klein, Pedro Rodriquez Cruz, Bruno Eymard, Heinz Jungbluth, Corrie Erasmus, Adela Della Marina, Fulvio Baggi, Nancy Kuntz, Malene Børresen, Imelda Hughes, Sithara Ramdas, Monique Ryan, Matthew Pitt

المصدر: Neuromuscular Disorders, 30(3), 254-264. PERGAMON-ELSEVIER SCIENCE LTD

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Juvenile, Guidelines, medicine.disease, Myasthenia gravis, Settore MED/26 - NEUROLOGIA, Neurology, Pediatrics, Perinatology and Child Health, Myasthenia Gravis, medicine, Neurology (clinical), business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87cd90b4d0d59a80d83e00420c431f01
https://hdl.handle.net/1887/3182689

المؤلفون: Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaetan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand-Sorbets, Georg Dorfmüller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernandez-Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor Jansen, Kees Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe d’Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R. NordliJr, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartolomei, Anne Fabienne Lepine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard-Mousnier, Julien Thevenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller-Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostasy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac

المساهمون: Reproduction and Genetics, Clinical sciences, Medical Genetics, Mental Health and Wellbeing research group, Public Health Sciences, Neurogenetics, Pediatrics

المصدر: Genetics in Medicine

مصطلحات موضوعية: ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Correction, Genetics(clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e177a26f87742ce4a3c63fe250cdad2b
http://europepmc.org/articles/PMC7608347

المؤلفون: Annemieke Aartsma-Rus, Pat Furlong, Elizabeth Vroom, Gert-Jan van Ommen, Erik Niks, Chiara Straathof, Jan Verschuuren, Alessandra Ferlini, Lynn Hagger, Emma Heslop, Veronika Karcagi, Jan Kirschner, Pauline McCormack, Pat Moeschen, Francesco Muntoni, Marie-Christine Ouillade, Jes Rahbeck, Christoph Rehmann-Sutter, Francoise Rouault, Tomas Sejersen, Simon Woods

المصدر: Neuromuscular disorders : NMD. 21(1)

مصطلحات موضوعية: Therapeutic Misconception, medicine.medical_specialty, Duchenne dystrophy, Clinical Trials as Topic, business.industry, Therapeutic misconception, Duchenne muscular dystrophy, medicine.disease, Exon skipping, Clinical trial, Muscular Dystrophy, Duchenne, Neurology, Pediatrics, Perinatology and Child Health, Antisense oligonucleotides, Medicine, Humans, Neurology (clinical), Precision Medicine, business, Intensive care medicine, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f707b7e4b8f5211a83694313ce95dc0c
https://pubmed.ncbi.nlm.nih.gov/21641220

المؤلفون: Annemieke Aartsma-Rus, Pat Furlong, Elizabeth Vroom, Gert-Jan van Ommen, Erik Niks, Chiara Straathof, Jan Verschuuren, Alessandra Ferlini, Lynn Hagger, Emma Heslop, Veronika Karcagi, Jan Kirschner, Pauline McCormack, Pat Moeschen, Francesco Muntoni, Marie-Christine Ouillade, Jes Rahbeck, Christoph Rehmann-Sutter, Francoise Rouault, Tomas Sejersen, Simon Woods

المصدر: Neuromuscular Disorders. 21:527-528

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::24990db33ab2efa22bd5cb8cb317961f
https://doi.org/10.1016/j.nmd.2011.05.004