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: Mary Lou Beermann, Sachiko Homma, Jeffrey Boone Miller

المصدر: BMC Research Notes, Vol 15, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: DUX4, Facioscapulohumeral muscular dystrophy, FSHD, Skeletal muscle biopsy, Proximity ligation assay, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-0500Test

الوصول الحر: https://doaj.org/article/239049193c71461b8c3ef4486e2f506eTest

المؤلفون: Cinzia Bettio, Valentina Salsi, Mirko Orsini, Enrico Calanchi, Luca Magnotta, Luca Gagliardelli, June Kinoshita, Sonia Bergamaschi, Rossella Tupler

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Rare disease registry, Data collection, Data integration, FSHD, Rare diseases, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/f2cc7c6cc1104d04a0dd2afdd0dacf6eTest

المؤلفون: Leo H. Wang, Dennis W. W. Shaw, Anna Faino, Christopher B. Budech, Leann M. Lewis, Jeffrey Statland, Katy Eichinger, Stephen J. Tapscott, Rabi N. Tawil, Seth D. Friedman

المصدر: BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: MRI, All neuromuscular disease, Muscle disease, Facioscapulohumeral muscular dystrophy (FSHD), Outcome measures, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2474Test

الوصول الحر: https://doaj.org/article/d70451aa6ae64c5697fa216d037e6492Test

المؤلفون: Teresa Schätzl, Lars Kaiser, Hans-Peter Deigner

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-26 (2021)

مصطلحات موضوعية: Facioscapulohumeral muscular dystrophy (FSHD), Double Homeobox 4 (DUX4), Epigenetic, Downstream signalling, Treatment strategies, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/6962fa1e9abd4ab3a1e09d7a1e621d29Test

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 disease, Physical activity, Rare disease, Sport medicine

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38183077; info:eu-repo/semantics/altIdentifier/wos/WOS:001137106900004; volume:25; issue:1; firstpage:25; lastpage:35; numberofpages:11; journal:BMC MUSCULOSKELETAL DISORDERS; https://hdl.handle.net/11570/3295228Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85181508675

الإتاحة: https://doi.org/10.1186/s12891-023-07150-xTest
https://hdl.handle.net/11570/3295228Test

المؤلفون: Leo H. Wang, Laura M. Johnstone, Michael Bindschadler, Stephen J. Tapscott, Seth D. Friedman

المصدر: BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: All neuromuscular disease, Muscle disease, Facioscapulohumeral muscular dystrophy (FSHD), Outcome measures, Case report, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2474Test

الوصول الحر: https://doaj.org/article/519fc0c87b7045eaa80ac1ba077301ffTest

المؤلفون: Nikolay Zernov, Mikhail Skoblov

المصدر: BMC Medical Genomics, Vol 12, Iss S2, Pp 79-85 (2019)

مصطلحات موضوعية: Inherited disease, FSHD, D4Z4, Genotype-phenotype correlation, Methylation, Anticipation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12920-019-0488-5Test; https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/3deda3d4a1e546afb740fd52963bc93fTest

المؤلفون: Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi, Christophe Béroud

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: Patient registry, Database, Facioscapulohumeral muscular dystrophy, FSHD, FSHD1, FSHD2, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-018-0960-xTest; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/1d253328860746cc93b723944ebbca3cTest

المؤلفون: Premi Haynes, Karol Bomsztyk, Daniel G. Miller

المصدر: Epigenetics & Chromatin, Vol 11, Iss 1, Pp 1-14 (2018)

مصطلحات موضوعية: FSHD, Facioscapulohumeral, Muscular, Dystrophy, DUX4, Epigenetics, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13072-018-0215-zTest; https://doaj.org/toc/1756-8935Test

الوصول الحر: https://doaj.org/article/0ab0f130c6d04aaa9e7ebc24650405afTest