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

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

الوصول الحر: https://doaj.org/article/61de057bf13d4fb78dcd7f9489634400Test

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

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

العلاقة: https://doaj.org/toc/2190-5991Test; https://doaj.org/toc/2190-6009Test

الوصول الحر: https://doaj.org/article/9f75fa9bef2e4cbab604efb78a1219d3Test

المؤلفون: Murray, Roisin

المساهمون: Graham, Christopher, Farrell, Lynn, Lyttle, Nigel, Alty, Jane, Curran, David, Williams, Stefan

مصطلحات موضوعية: FND, Functional Neurological Disorder, Neurological Conditions, FSHD, facioscapulohumeral muscular dystrophy, clinical psychology, healthcare practitioner attitudes, implicit attitudes, qualitative synthesis

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.865070Test

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

الإتاحة: https://doi.org/10.1186/s12891-023-07150-xTest
https://hdl.handle.net/11562/1116767Test

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

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

الوصول الحر: https://doaj.org/article/f38a0076c826444eb8ce8da70e5120a5Test

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)

مصطلحات موضوعية: FSHD, exome, D4Z4, genetics, muscular dystrophy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1235589/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/cc4047e5faa546578eb91081027d9b46Test

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