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1دورية أكاديمية
المؤلفون: Campbell, Amy E, Dyle, Michael C, Albanese, Roberto, Matheny, Tyler, Sudheendran, Kavitha, Cortázar, Michael A, Forman, Thomas, Fu, Rui, Gillen, Austin E, Caruthers, Marvin H, Floor, Stephen N, Calviello, Lorenzo, Jagannathan, Sujatha
المصدر: Cell Reports. 42(6)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Facioscapulohumeral Muscular Dystrophy, Rare Diseases, Stem Cell Research - Embryonic - Human, Stem Cell Research, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Muscular Dystrophy, Aetiology, 2.1 Biological and endogenous factors, Humans, Gene Expression Regulation, Muscular Dystrophy, Facioscapulohumeral, Nonsense Mediated mRNA Decay, RNA, RNA-Binding Proteins, Serine-Arginine Splicing Factors, CP: Molecular biology, DUX4, FSHD, NMD, RNA decay, dystrophy, muscular, quality control, splicing, translation, Biochemistry and Cell Biology, Medical Physiology, Biological sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2qb0b5ndTest
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2دورية أكاديمية
المؤلفون: Cinzia Bettio, Federico Banchelli, Valentina Salsi, Roberto Vicini, Oscar Crisafulli, Lucia Ruggiero, Giulia Ricci, Elisabetta Bucci, Corrado Angelini, Angela Berardinelli, Silvia Bonanno, Maria Grazia D’Angelo, Antonio Di Muzio, Massimiliano Filosto, Erica Frezza, Lorenzo Maggi, Tiziana Mongini, Elena Pegoraro, Carmelo Rodolico, Marina Scarlato, Gaetano Vattemi, Daniele Velardo, Giuliano Tomelleri, Roberto D’Amico, Giuseppe D’Antona, Rossella Tupler
المصدر: BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: FSHD, Neuromuscular diseases, Sport medicine, Physical activity, Rare disease, Health promotion, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2474Test
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3دورية أكاديمية
المؤلفون: Statland, Jeffrey, Campbell, Craig, Desai, Urvi, Karam, Chafic, Díaz-Manera, Jordi, Guptill, Jeffrey, Korngut, Lawrence, Genge, Angela, Tawil, Rabi, Elman, Lauren, Joyce, Nanette, Wagner, Kathryn, Manousakis, Georgios, Amato, Anthony, Butterfield, Russell, Shieh, Perry, Wicklund, Matthew, Gamez, Josep, Bodkin, Cynthia, Pestronk, Alan, Weihl, Conrad, Vilchez-Padilla, Juan, Johnson, Nicholas, Mathews, Katherine, Miller, Barry, Leneus, Ashley, Fowler, Marcie, van de Rijn, Marc, Attie, Kenneth
المصدر: Muscle and Nerve. 66(1)
مصطلحات موضوعية: FSHD, controlled trial, facioscapulohumeral muscular dystrophy, randomized, Adolescent, Adult, Cytomegalovirus Infections, Humans, Magnetic Resonance Imaging, Muscle Contraction, Muscle, Skeletal, Muscular Dystrophy, Facioscapulohumeral
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4rb044kbTest
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4دورية أكاديمية
المؤلفون: Sanne C.C. Vincenten, Karlien Mul, Daniël vanAs, Julia J. Jansen, Linda Heskamp, Arend Heerschap, Baziel G.M. vanEngelen, Nicol C. Voermans
المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 14, Iss 4, Pp 1695-1706 (2023)
مصطلحات موضوعية: FSHD, Muscle imaging, MRI, Biomarker, Clinical outcome, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695
وصف الملف: electronic resource
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5رسالة جامعية
المؤلفون: Murray, Roisin
المساهمون: Graham, Christopher, Farrell, Lynn, Lyttle, Nigel, Alty, Jane, Curran, David, Williams, Stefan
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6دورية أكاديمية
المؤلفون: Bettio, Cinzia, Banchelli, Federico, Salsi, Valentina, Vicini, Roberto, Crisafulli, Oscar, Ruggiero, Lucia, Ricci, Giulia, Bucci, Elisabetta, Angelini, Corrado, Berardinelli, Angela, Bonanno, Silvia, D'Angelo, Maria Grazia, Di Muzio, Antonio, Filosto, Massimiliano, Frezza, Erica, Maggi, Lorenzo, Mongini, Tiziana, Pegoraro, Elena, Rodolico, Carmelo, Scarlato, Marina, Vattemi, Gaetano, Velardo, Daniele, Tomelleri, Giuliano, D'Amico, Roberto, D'Antona, Giuseppe, Tupler, Rossella
المساهمون: Bettio, Cinzia, Banchelli, Federico, Salsi, Valentina, Vicini, Roberto, Crisafulli, Oscar, Ruggiero, Lucia, Ricci, Giulia, Bucci, Elisabetta, Angelini, Corrado, Berardinelli, Angela, Bonanno, Silvia, D'Angelo, Maria Grazia, Di Muzio, Antonio, Filosto, Massimiliano, Frezza, Erica, Maggi, Lorenzo, Mongini, Tiziana, Pegoraro, Elena, Rodolico, Carmelo, Scarlato, Marina, Vattemi, Gaetano, Velardo, Daniele, Tomelleri, Giuliano, D'Amico, Roberto, D'Antona, Giuseppe, Tupler, Rossella
مصطلحات موضوعية: FSHD, Health promotion, Neuromuscular diseases, Physical activity, Rare disease, Sport medicine
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38183077; info:eu-repo/semantics/altIdentifier/wos/WOS:001137106900004; volume:25; issue:35; firstpage:1; lastpage:9; numberofpages:9; journal:BMC MUSCULOSKELETAL DISORDERS; https://hdl.handle.net/11562/1116767Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85181508675; https://doi.org/10.1186/s12891-023-07150-xTest
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7دورية أكاديمية
المؤلفون: Allen, Jodi, Stone-Ghariani, Aoife, Quezada, Gabriella, Banks, Donna, Rose, Frank, Knight, William, Newman, Jill, Newman, William, Anderson, Philip, Smith, Christina
مصطلحات موضوعية: Swallowing, Myotonic Dystrophy Type 1 (DM1), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Advisory Group
وصف الملف: 389-410; application/pdf
العلاقة: Journal of Neuromuscular Diseases; https://eresearch.qmu.ac.uk/handle/20.500.12289/13722/13722.pdfTest; Allen, J., Stone-Ghariani, A., Quezada, G., Banks, D., Rose, F., Knight, W., Newman, J., Newman, W., Anderson, P. and Smith, C. (2024) ‘Living with dysphagia: a survey exploring the experiences of adults living with neuromuscular disease and their caregivers in the united kingdom’, Journal of Neuromuscular Diseases, 11(2), pp. 389–410. Available at: https://doi.org/10.3233/JND-230002Test.; https://eresearch.qmu.ac.uk/handle/20.500.12289/13722Test; https://doi.org/10.3233/JND-230002Test
الإتاحة: https://doi.org/20.500.12289/13722/13722.pdfTest
https://doi.org/20.500.12289/13722Test
https://doi.org/10.3233/JND-230002Test
https://eresearch.qmu.ac.uk/handle/20.500.12289/13722/13722.pdfTest
https://hdl.handle.net/20.500.12289/13722/13722.pdfTest
https://eresearch.qmu.ac.uk/handle/20.500.12289/13722Test
https://hdl.handle.net/20.500.12289/13722Test -
8دورية أكاديمية
المؤلفون: Thuy-Hang Nguyen, Maelle Limpens, Sihame Bouhmidi, Lise Paprzycki, Alexandre Legrand, Anne-Emilie Declèves, Philipp Heher, Alexandra Belayew, Christopher R. S. Banerji, Peter S. Zammit, Alexandra Tassin
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 6, p 3327 (2024)
مصطلحات موضوعية: FSHD, DUX4, HIF1α, myogenesis, skeletal muscle, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/6/3327Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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9دورية أكاديمية
المؤلفون: Claudia Strafella, Valerio Caputo, Sara Bortolani, Eleonora Torchia, Domenica Megalizzi, Giulia Trastulli, Mauro Monforte, Luca Colantoni, Carlo Caltagirone, Enzo Ricci, Giorgio Tasca, Raffaella Cascella, Emiliano Giardina
المصدر: Frontiers in Genetics, Vol 14 (2023)
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1235589/fullTest; https://doaj.org/toc/1664-8021Test
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10دورية أكاديمية
المؤلفون: Chau, Jonathan, Kong, Xiangduo, Nguyen, Nam, Williams, Katherine, Ball, Miya, Tawil, Rabi, Kiyono, Tohru, Mortazavi, Ali, Yokomori, Kyoko
المصدر: Human Mutation. 42(4)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Muscular Dystrophy, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Biotechnology, Facioscapulohumeral Muscular Dystrophy, Cell Nucleus, Gene Expression, Gene Expression Regulation, Homeodomain Proteins, Humans, Muscle Fibers, Skeletal, Muscle, Skeletal, Muscular Dystrophy, Facioscapulohumeral, DUX4, FSHD, KDM4E, LEUTX, RNAScope, skeletal myotubes, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2z3611rpTest