المؤلفون: Estefanía Cerro-Herreros, Irene González-Martínez, Nerea Moreno, Jorge Espinosa-Espinosa, Juan M. Fernández-Costa, Anna Colom-Rodrigo, Sarah J. Overby, David Seoane-Miraz, Javier Poyatos-García, Juan J. Vilchez, Adolfo López de Munain, Miguel A. Varela, Matthew J. Wood, Manuel Pérez-Alonso, Beatriz Llamusí, Rubén Artero

المصدر: Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 174-191 (2021)

مصطلحات موضوعية: microRNAs, CTG repeat expansions, MBNL1 protein, antisense oligonucleotide, alternative splicing, myotonic dystrophy, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253121001852; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/fcb1590ef3cd430fb37c123264dbacdc

المؤلفون: Maria Sabater-Arcis, Ariadna Bargiela, Nerea Moreno, Javier Poyatos-Garcia, Juan J. Vilchez, Ruben Artero

المصدر: Molecular Therapy: Nucleic Acids, Vol 25, Iss , Pp 652-667 (2021)

مصطلحات موضوعية: myotonic dystrophy, muscle dysfunction, MSI2, miR-7, autophagy, antisense oligonucleotides, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253121002043; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/a4afb6946f544312a3ac309996985fde

المؤلفون: Pedro Asensi Cantó, Empar Mayordomo, Andrea Dorado, Marta Villalba, Rosana Blanco Mañez, Eva González, Miguel Salavert, Ana Facal, Pedro Chorão, Aitana Balaguer, Rafael Sivera, Juan Montoro, Juan J. Vilchez, José Luis Piñana, Miguel Sanz, Jaime Sanz, Nuria Muelas, Manuel Guerreiro

المصدر: Transplant Infectious Disease.

مصطلحات موضوعية: Transplantation, Infectious Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a72b463a9c6547bfa6c9879963ea6660
https://doi.org/10.1111/tid.14067

المؤلفون: Ariadna Bargiela, Estefanía Cerro-Herreros, Juan M. Fernandez-Costa, Juan J. Vilchez, Beatriz Llamusi, Ruben Artero

المصدر: Disease Models & Mechanisms, Vol 8, Iss 7, Pp 679-690 (2015)

مصطلحات موضوعية: Autophagy, Apoptosis, Muscleblind, CTG repeat expansion, Muscle atrophy, Dystrophy, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/8/7/679; https://doaj.org/toc/1754-8411; https://doaj.org/toc/1754-8403

URL الوصول: https://doaj.org/article/395ac63bd7224b6189e50af4aafd544e

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::725b0a040cb61b4b57e2cda4b26e1adf
http://hdl.handle.net/1887/3497485

المؤلفون: Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, Carlos Morata-Martínez, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller, Irene Martínez-Torres, Julia Pérez-García, Rafael Sivera, Teresa Sevilla, Juan J. Vilchez, Teresa Jaijo, Carmen Espinós, Jose M. Millán, Luis Bataller, Elena Aller

المصدر: Neurology. Genetics. 8(6)

مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1195d4c0d80c5e8e15a487923001d21a
https://pubmed.ncbi.nlm.nih.gov/36530930

المؤلفون: Jeffrey M. Statland, Craig Campbell, Urvi Desai, Chafic Karam, Jordi Díaz‐Manera, Jeffrey T. Guptill, Lawrence Korngut, Angela Genge, Rabi N. Tawil, Lauren Elman, Nanette C. Joyce, Kathryn R. Wagner, Georgios Manousakis, Anthony A. Amato, Russell J. Butterfield, Perry B. Shieh, Matthew Wicklund, Josep Gamez, Cynthia Bodkin, Alan Pestronk, Conrad C. Weihl, Juan J. Vilchez‐Padilla, Nicholas E. Johnson, Katherine D. Mathews, Barry Miller, Ashley Leneus, Marcie Fowler, Marc van de Rijn, Kenneth M. Attie

المصدر: MUSCLE & NERVE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: Adult, FSHD, Adolescent, Physiology, facioscapulohumeral muscular dystrophy, controlled trial, Magnetic Resonance Imaging, Muscular Dystrophy, Facioscapulohumeral, Cellular and Molecular Neuroscience, Physiology (medical), randomized, Cytomegalovirus Infections, Humans, Neurology (clinical), Muscle, Skeletal, Muscle Contraction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5633f4fbc98d0656df25aa5f60ef8e7f
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9872

المؤلفون: 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

المصدر: Paediatrics Publications

مصطلحات موضوعية: Duchenne muscular dystrophy, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Prednisolone, Population, Nonsense mutation, Placebo, chemistry.chemical_compound, Pregnenediones, Prednisone, Internal medicine, medicine, Humans, education, deflazacort, Retrospective Studies, education.field_of_study, business.industry, Health Policy, prednisolone, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, Deflazacort, meta-analysis, chemistry, Codon, Nonsense, prednisone, business, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf

المؤلفون: Luis Bataller, Myrna R. Rosenfeld, Francesc Graus, Juan J. Vilchez, Nai-Kong V. Cheung

المصدر: Annals of Neurology; Mar2003, Vol. 53 Issue 3, p347-353, 7p

المؤلفون: Estrella Rubio-Solsona, Salvador Martí, Juan J Vílchez, Francesc Palau, Janet Hoenicka

المصدر: PLoS ONE, Vol 13, Iss 6, p e0198880 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5991398?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/315eef2ed3274bacb7aacbfe485d3d75