المؤلفون: A. Schaenzer, D. Hilton, James B. Lilleker, Teresinha Evangelista, R. Charlton, Matthew Ellis, F. Muntoni, D. Chambers, Anna Sarkozy, C. Dittmayer, Werner Stenzel, F. Leturcq, Chiara Marini-Bettolo, F. Catapano, C. Jimenez-Mallebrera, Federico Roncaroli, S. Torelli, Rahul Phadke, D. Natera-de Benito

المصدر: Neuromuscular Disorders. 31:S96-S97

مصطلحات موضوعية: Neurology, biology, Pediatrics, Perinatology and Child Health, Utrophin, biology.protein, Neurology (clinical), Dystrophin, Quantitative analysis (chemistry), Genetics (clinical), Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0177d8f50091c53f426367a5bd01b6e3
https://doi.org/10.1016/j.nmd.2021.07.182

المؤلفون: C. Jimenez-Mallebrera, Cristina Domínguez-González, Selena Trifunov, Jordi Díaz-Manera, Carmen Badosa, Fabiola Mavillard, Julio Montoya, Itxaso Marti, Michio Hirano, Marcos Madruga-Garrido, Carmen Paradas, Raquel Montero, Daniel Cuadras, Rafael Artuch, Ramon Martí, Jorge Alonso-Pérez, Joan Villarroya, Andres Berardo, Susana G. Kalko, Yolanda Cámara, Miguel A. Martín, Andrés Nascimento, Eduardo Ruiz-Pesini, Carlos Ortez, Cora Blázquez-Bermejo, Francesc Villarroya

المساهمون: Instituto de Salud Carlos III, European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Muscular Dystrophy Association (US), Arturo Estopinan TK2 Research Fund

المصدر: SCIENTIFIC REPORTS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Scientific Reports
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Digital.CSIC. Repositorio Institucional del CSIC
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Consejo Superior de Investigaciones Científicas (CSIC)

مصطلحات موضوعية: 0301 basic medicine, Male, Mitochondrial Diseases, lcsh:Medicine, Diseases, Gastroenterology, Mitocondris, Basal (phylogenetics), 0302 clinical medicine, Medicine, lcsh:Science, Child, Multidisciplinary, Biochemical markers, Middle Aged, Prognosis, Mitochondria, Neurology, Child, Preschool, Marcadors bioquímics, embryonic structures, Biomarker (medicine), Female, medicine.symptom, After treatment, Adult, medicine.medical_specialty, Growth Differentiation Factor 15, DNA, Mitochondrial, Thymidine Kinase, Article, 03 medical and health sciences, Disease severity, Muscular Diseases, Internal medicine, Genetics, Humans, In patient, Myopathy, Muscle, Skeletal, Aged, business.industry, lcsh:R, Infant, Fibroblast Growth Factors, 030104 developmental biology, Potential biomarkers, lcsh:Q, GDF15, business, 030217 neurology & neurosurgery, Biomarkers, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a563d6d7a349db1a70fda0b22a12d0
http://zaguan.unizar.es/record/94553

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المؤلفون: Loreto Martorell, Julita Medina, Andrés Nascimento, E. Bobadilla, Jaume Colomer, A. Pareja, Carlos Ortez, L. Carrera, J. Corbera, D. Natera, S. Zambudio, V. Sáez, Cristina Jou, A. Bazán, C. Jimenez-Mallebrera, A. Codina, J. Exposito, Delia Yubero

المصدر: Neuromuscular Disorders. 30:S49-S50

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Autophagy, medicine, Distal Myopathies, Neurology (clinical), Disease, Myofibril, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c8a0ca55d961eb50fa954381fb07483d
https://doi.org/10.1016/j.nmd.2020.08.014

المؤلفون: Monkol Lek, Steve D. Wilton, Apurva Sarathy, Ying Hu, A.R. Foley, C. Jimenez-Mallebrera, Shireen R. Lamandé, H. Solomon Degefa, Sandra Donkervoort, Haiyan Zhou, Eric Hanssen, Carsten G. Bönnemann, Alessandra Ferlini, Oded Regev, Beryl B. Cummings, Francesco Muntoni, Valérie Allamand, Véronique Bolduc, Raimund Wagener, Daniel G. MacArthur

المصدر: Neuromuscular Disorders. 29:S40-S41

مصطلحات موضوعية: business.industry, medicine.disease, Clinical neurology, Neurology, Collagen VI, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Cancer research, Medicine, splice, Neurology (clinical), Muscular dystrophy, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bb7fd6186cb9642d3c82d7c0a2abb61a
https://doi.org/10.1016/j.nmd.2019.06.028

المؤلفون: P. Laforêt, Marion Brisset, E. Malfatti, C. Badosa, Robert-Yves Carlier, Norma B. Romero, C. Marques, Corinne Metay, C. Jimenez-Mallebrera

المصدر: Neuromuscular Disorders. 29:S206

مصطلحات موضوعية: Pathology, medicine.medical_specialty, biology, Chemistry, Connective tissue, medicine.disease, Tenascin X, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Neurology (clinical), Joint dislocation, medicine.symptom, Myopathy, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::48265b78527563a0a8693148e64d9542
https://doi.org/10.1016/j.nmd.2019.06.590

المؤلفون: C. Jimenez-Mallebrera, J. Exposito Escudero, D. Natera de Benito, Julita Medina, L. Carrera, Selena Trifunov, Andrés Nascimento, Carmen Badosa, Carlos Ortez

المصدر: Neuromuscular Disorders. 29:S93

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Longitudinal study, business.industry, Duchenne muscular dystrophy, medicine.disease, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, microRNA, medicine, Neurology (clinical), business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9ec349d6c71841c146e71c894aac67bd
https://doi.org/10.1016/j.nmd.2019.06.208

المؤلفون: D. Natera de Benito, C. Jimenez-Mallebrera, Jaume Colomer, A. Codina, L. Carrera, Delia Yubero, Andrés Nascimento, Cristina Jou, N. Julia, J. Exposito, E. Bobadilla, Carlos Ortez

المصدر: Neuromuscular Disorders. 29:S97

مصطلحات موضوعية: Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Limb girdle, Neurology (clinical), Anatomy, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::60e1aaf199936af15af974a991ed4f2c
https://doi.org/10.1016/j.nmd.2019.06.222

المؤلفون: C. Jimenez-Mallebrera, J. Porta, M. Roldán, C. Badosa, A. Bazaga

المصدر: Neuromuscular Disorders. 29:S194

مصطلحات موضوعية: Neurology, Collagen VI, Computer science, Image (category theory), Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical), Biomedical engineering

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f73925ea07df91c00a05c6955e2c6189
https://doi.org/10.1016/j.nmd.2019.06.547