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المؤلفون: Sam Geuens, Kathelijne Leyen, Koen Raymaekers, Sofie Prikken, Joanna Willen, Nathalie Goemans, Liesbeth De Waele, Jurgen Lemiere, Koen Luyckx
المصدر: Clinical child psychology and psychiatry.
مصطلحات موضوعية: Psychiatry and Mental health, Clinical Psychology, Pediatrics, Perinatology and Child Health, General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cf3b1178b36ba8642d3a431ca4cc670Test
https://pubmed.ncbi.nlm.nih.gov/36112900Test -
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المؤلفون: Andreas Ziegler, Nathalie Goemans, Janbernd Kirschner, Eduardo F. Tizzano, Laurent Servais, Eugenio Mercuri, Thomas Sejersen, Francesco Muntoni, N. Butoianu, Anna Kostera-Pruszczyk, Jana Haberlová, W. Ludo van der Pol, Susana Quijano-Roy
المصدر: European Journal of Paediatric Neurology
مصطلحات موضوعية: medicine.medical_specialty, Consensus, Statement (logic), Recombinant Fusion Proteins, Zolgensma, Context (language use), Disease, SMN1, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, Gene therapy, 0302 clinical medicine, Nusinersen, 030225 pediatrics, Onasemnogene abeparvovec, Humans, Medicine, Intensive care medicine, Biological Products, business.industry, Patient Selection, Gene replacement therapy, Infant, Genetic Therapy, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery, SMN2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07fa53855c7e4c43428df03e9da83368Test
https://doi.org/10.1016/j.ejpn.2020.07.001Test -
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المؤلفون: Eduardo F. Tizzano, W. Ludo van der Pol, Eugenio Mercuri, Susana Quijano-Roy, Andreas Ziegler, Janbernd Kirschner, N. Butoianu, Laurent Servais, Thomas Sejersen, Nathalie Goemans, Jana Haberlová, Anna Kostera-Pruszczyk, Francesco Muntoni
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 30
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, MEDLINE, General Medicine, Spinal muscular atrophy, Newly diagnosed, Spinal Muscular Atrophies of Childhood, medicine.disease, Muscular Atrophy, Spinal, Pediatrics, Perinatology and Child Health, medicine, Humans, Neurology (clinical), Treatment decision making, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbecb24caa6d66aad9e799d27381d087Test
https://pubmed.ncbi.nlm.nih.gov/33353801Test -
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المؤلفون: Shin'ichi Takeda, Annemieke Aartsma-Rus, Eugenio Mercuri, Nathalie Goemans, Dongsheng Duan
المصدر: Nature Reviews Disease Primers, 7(1). NATURE RESEARCH
مصطلحات موضوعية: musculoskeletal diseases, biology, business.industry, Duchenne muscular dystrophy, Cardiomyopathy, General Medicine, Disease, Assisted ventilation, Bioinformatics, medicine.disease, Dystrophin, Muscular Dystrophy, Duchenne, Premature death, Disease Models, Animal, biology.protein, medicine, Animals, Humans, Muscular dystrophy, business, Genetic diagnosis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a1b1b66d7336a356191d47fb66b88b8Test
https://pubmed.ncbi.nlm.nih.gov/33602943Test -
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المؤلفون: Didier Caizergues, Dominic J. Wells, Nathalie Goemans, Joanne Lee, James J. Dowling, Cristina Csimma, Tracey Zoetis, Miranda D. Grounds, Annamaria De Luca, Heather Gordish-Dressman, Elizabeth M. McNally, Michael Kelly, Volker Straub, Kathryn R. Wagner, C. Turner, Anna Mayhew
المصدر: Nature Reviews Drug Discovery. 19:1-2
مصطلحات موضوعية: 0301 basic medicine, Pharmacology, medicine.medical_specialty, business.industry, Advisory committee, General Medicine, Tact, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Drug development, Multidisciplinary approach, 030220 oncology & carcinogenesis, Family medicine, Drug Discovery, medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::be436b9fbcd46f3d92c67b2c9a239111Test
https://doi.org/10.1038/d41573-019-00199-1Test -
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المؤلفون: Nathalie Goemans, Perry B. Shieh, Eugenio Mercuri, M. James, Maria Bernadete Dutra de Resende, Kathryn Selby, Jean K. Mah, Brigitte Chabrol, Juan J. Vílchez, Andrés Nascimento Osorio, Yann Péréon, Linda Lowes, Gihan Tennekoon, Leslie Nelson, Jahannaz Dastgir, Janbernd Kirschner, Thomas Voit, Haluk Topaloglu, Joseph McIntosh, Marcio Souza, Francesco Muntoni, Susan D. Apkon, Richard S. Finkel, Enrico Bertini, R. Spiegel, Kristi J. Jones, Timothy Lotze, Julie A. Parsons, Peter Riebling, Kristy Rose, Giuseppe Vita, H. Kroger, Tuyen Ong, H. Lee Sweeney, Susan T. Iannaccone, Michela Guglieri, Craig Campbell, Kevin M. Flanigan, Clemens Bloetzer, Xiaohui Luo, Peter Heydemann, Michelle Eagle, Anna Kamińska, Stuart W. Peltz, Peter I. Karachunski, Martin Kudr, Giacomi Pietro Comi, Hoda Abdel-Hamid, Lausanne Canton de Vaud, Craig M. McDonald, Basil T. Darras, Yoram Nevo, Ulrike Schara, Alexandra Prufer de Queiroz Campos Araujo, Lindsay N. Alfano, Russell J. Butterfield, J. Ben Renfroe, Thomas Sejersen, Erika Finanger, Gary Elfring, Katherine D. Mathews, Jong-Hee Chae, Isabelle Desguerre, Daehak-ro Jongno-gu, Raul G Escobar, Elena S. Mazzone, Anna Mayhew, Brenda Wong, Richard J. Barohn, Monique M. Ryan, Imelda Hughes, Ricardo Erazo Torricelli, Mar Tulinius
المصدر: Lancet
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Paediatrics Publicationsمصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Patients, Adolescent, Population, Nonsense mutation, Medizin, Subgroup analysis, Walking, Placebo, Global Health, Muscular Dystrophies, Dystrophin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Clinical endpoint, Medicine, Humans, Muscular Dystrophy, education, Child, Muscular Dystrophy, Duchenne, Muscular Dystrophies, Patients, education.field_of_study, Oxadiazoles, Intention-to-treat analysis, business.industry, duchenne, General Medicine, Ataluren, Muscular Dystrophy, Duchenne, 030104 developmental biology, Treatment Outcome, chemistry, Codon, Nonsense, Ambulatory, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595d3fa7afbaf20dfa8bca3b7d7c45eaTest
https://pubmed.ncbi.nlm.nih.gov/28728957Test -
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المؤلفون: L Servais, Ksenija Gorni, Janbernd Kirschner, Y. Cleary, Eugenio Mercuri, W. Yeung, Marianne Gerber, Craig Campbell, Nathalie Goemans, Heidemarie Kletzl, Jeppe Buchbjerg, Omar Khwaja, M Pera, Christian Czech, Giovanni Baranello
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46:S31
مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Survival of motor neuron, General Medicine, SMN1, Spinal muscular atrophy, SMA, Placebo, medicine.disease, nervous system diseases, nervous system, Neurology, Tolerability, Pharmacokinetics, Internal medicine, medicine, Neurology (clinical), Adverse effect, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9a18015a9b40a6ff28a3f3702bb2b47dTest
https://doi.org/10.1017/cjn.2019.163Test -
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المؤلفون: Christine Wittevrongel, Nathalie Goemans, Veerle Labarque, Marc Hoylaerts, Rita Vos, Chris Van Geet, Chantal Thys, Kathleen Freson
المصدر: Human Molecular Genetics. 17:357-366
مصطلحات موضوعية: Blood Platelets, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Gs alpha subunit, Cytoskeleton organization, Duchenne muscular dystrophy, Blood Loss, Surgical, In Vitro Techniques, Dystrophin, Extracellular matrix, Von Willebrand factor, Laminin, Internal medicine, GTP-Binding Protein alpha Subunits, Gs, Genetics, medicine, Humans, Platelet, Child, Molecular Biology, Cytoskeleton, Genetics (clinical), biology, General Medicine, Platelet Activation, medicine.disease, Muscular Dystrophy, Duchenne, Spinal Fusion, Endocrinology, Case-Control Studies, Mutation, biology.protein, Collagen, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1091c5b84531e98de52d17c5e3fde29bTest
https://doi.org/10.1093/hmg/ddm312Test -
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المؤلفون: Gunnar M. Buyse, Diana M. Escolar, Marleen Van den Hauwe, Julaine Florence, Alejandro Jara, J. Mayhew, Erik K Henricson, Nathalie Goemans, Robert T. Leshner
المصدر: European Journal of Paediatric Neurology. 11:337-340
مصطلحات موضوعية: Male, medicine.medical_specialty, Time Factors, Duchenne muscular dystrophy, Pilot Projects, Piperazines, medicine, Humans, Muscle Strength, Muscular dystrophy, Child, business.industry, Pilot trial, General Medicine, medicine.disease, Therapeutic trial, Muscular Dystrophy, Duchenne, Clinical trial, Treatment Outcome, Child, Preschool, Pediatrics, Perinatology and Child Health, Histamine H1 Antagonists, Linear Models, Physical therapy, Muscle strength, Female, Neurology (clinical), Oxatomide, business, Follow-Up Studies, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45b681bedf208641f0f234c7917d3dfdTest
https://doi.org/10.1016/j.ejpn.2007.02.009Test -
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المؤلفون: Nathalie Goemans, Matthias Mörgelin, Kathryn N. North, Rachel A. Peat, Shireen R. Lamandé, John F. Bateman, Naomi L. Baker
المساهمون: University of Groningen
المصدر: Human Molecular Genetics, 14(2), 279-293. Oxford University Press
مصطلحات موضوعية: Adult, IN-FRAME DELETION, VONWILLEBRAND-FACTOR, TRIPLE-HELIX, Ullrich congenital muscular dystrophy, BETHLEM-MYOPATHY, ENDOPLASMIC-RETICULUM, Genes, Recessive, Collagen Type VI, Biology, medicine.disease_cause, Compound heterozygosity, Muscular Dystrophies, MICROFIBRIL FORMATION, Collagen VI, Genetics, medicine, Humans, RNA, Messenger, Child, Molecular Biology, Genetics (clinical), Genes, Dominant, Mutation, MESSENGER-RNA DECAY, Bethlem myopathy, Infant, Muscle weakness, Heterozygote advantage, GLOBULAR DOMAINS, General Medicine, Fibroblasts, medicine.disease, OLIGOMERIZATION DOMAINS, Osteogenesis imperfecta, OSTEOGENESIS IMPERFECTA, Child, Preschool, Microfibrils, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b4662eafe749a2b675730bdf29b58fcTest
https://research.rug.nl/en/publications/30a9d54f-1af2-4fc3-bc4a-2dadd46b6394Test