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المؤلفون: Francesca Benedetti, Caterina Agosto, Luca Giacomelli, Franca Benini, Eleonora Salamon, Giorgio Perilongo, Antuan Divisic, Aashni Shah
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-4 (2021)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Palliative care, lcsh:Medicine, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Nusinersen, medicine, Lack of efficacy, Humans, Pharmacology (medical), 030212 general & internal medicine, Adverse effect, Child, Letter to the Editor, Genetics (clinical), Ethics, business.industry, lcsh:R, Spinal muscular atrophy, Treatment, General Medicine, medicine.disease, SMA, Clinical Practice, Treatment interruption, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::993cf4e7cb587d546ebedca4eb4a6115Test
http://europepmc.org/articles/PMC7879688Test -
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المؤلفون: Riccardo Masson, Ramona De Amicis, Alberto Battezzati, Adele D'Amico, Alessandro Leone, Enrico Bertini, Marina Pedemonte, Chiara Mastella, Simone Ravella, Giorgio Bedogni, Caterina Agosto, Andrea Foppiani, Giovanni Baranello, E. Giaquinto, M. Bassano, Claudio Bruno, Simona Bertoli
المصدر: The American journal of clinical nutrition. 111(5)
مصطلحات موضوعية: Artificial ventilation, Male, Percentile, medicine.medical_specialty, medicine.medical_treatment, Oligonucleotides, Medicine (miscellaneous), Nutritional Status, Spinal Muscular Atrophies of Childhood, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Linear regression, Medicine, Humans, Resting energy expenditure, 030212 general & internal medicine, Longitudinal Studies, Child, Mechanical ventilation, Nutrition and Dietetics, Ventilators, Mechanical, business.industry, Nutritional Requirements, Infant, Calorimetry, Indirect, Child, Preschool, Basal metabolic rate, Breathing, Cardiology, Nusinersen, Female, Basal Metabolism, business, Energy Metabolism, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59df84c65e7c8e94d289ea48d13dea2Test
https://pubmed.ncbi.nlm.nih.gov/32145012Test -
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المؤلفون: Eleonora Salamon, Chiara Di Pede, Matteo Motta, Adriano Ferrari, Franca Benini, Caterina Agosto
مصطلحات موضوعية: Male, 030506 rehabilitation, Vital capacity, Adolescent, Posture, Physical Therapy, Sports Therapy and Rehabilitation, Scoliosis, Spinal Muscular Atrophies of Childhood, Sitting, Pulmonary function testing, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Spinal bracing, 0302 clinical medicine, Humans, Medicine, lung function in type-2, SMA, Child, Braces, business.industry, Rehabilitation, Spinal muscular atrophy, medicine.disease, Spinal bracing, lung function in type-2, SMA, Brace, respiratory tract diseases, Anesthesia, Female, Pulmonary Ventilation, 0305 other medical science, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a6aab06f91855d3b7e87021fa00b826Test
https://hdl.handle.net/11380/1169101Test -
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المؤلفون: Michio Hirano, Rafael Artuch, Eva Trevisson, Geppo Sartori, Maria Andrea Desbats, Salvatore DiMauro, Sabrina Sacconi, Caterina Agosto, Catarina M. Quinzii, Plácido Navas, Matteo Cassina, Vanessa Pertegato, Alberto Casarin, Leonardo Salviati, Orsetta Zuffardi, María Angeles Hernández, Carlos Santos-Ocaña, Luigi Memo, Mara Doimo
المساهمون: Fondazione Cassa di Risparmio di Padova e Rovigo, Fondazione Telethon, Ministerio de Sanidad, Servicios Sociales e Igualdad (España), Università degli Studi di Padova, Instituto de Salud Carlos III, Fondazione Cariplo, National Institutes of Health (US), Ministero della Salute, Dpt. of Pediatrics, Universita degli Studi di Padova, Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Cytogenetics, Human Genetics, Instituto de Salud Carlos III [Madrid] (ISC), Cell Biology, Universidad Pablo de Olavide [Sevilla] (UPO)
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (3), pp.187-91. ⟨10.1136/jmedgenet-2011-100394⟩مصطلحات موضوعية: Male, Transcription, Genetic, Ubiquinone, Haploinsufficiency, chemistry.chemical_compound, 0302 clinical medicine, COQ6, MESH: Ubiquinone, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Comparative Genomic Hybridization, 0303 health sciences, Gene knockdown, food and beverages, MESH: Mitochondrial Proteins, MESH: Saccharomyces cerevisiae, 3. Good health, Child, Preschool, MESH: Haploinsufficiency, Coenzyme Q10 deficiency, MESH: Electron Transport Chain Complex Proteins, medicine.medical_specialty, MESH: Abnormalities, Multiple, Saccharomyces cerevisiae, Biology, Article, Electron Transport, Mitochondrial Proteins, 03 medical and health sciences, MESH: Cell Proliferation, Molecular genetics, Genetics, medicine, Humans, Abnormalities, Multiple, MESH: Electron Transport, Gene, Cell Proliferation, 030304 developmental biology, Coenzyme Q10, MESH: Humans, Cell growth, MESH: Transcription, Genetic, MESH: Child, Preschool, Fibroblasts, medicine.disease, Molecular biology, MESH: Male, MESH: Comparative Genomic Hybridization, Electron Transport Chain Complex Proteins, chemistry, MESH: Fibroblasts, MESH: HeLa Cells, 030217 neurology & neurosurgery, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4abac953349840aec414f88c54a92885Test
http://hdl.handle.net/10261/129113Test