المؤلفون: Smeets, Hubert, Verbrugge, Bram, Bulbena, Xavier, Hristova, Liliya, Vogt, Julia, van Beckhoven, Isabelle, Allamand, Valérie, Almekinders, Josephine, Barquinero, Jordi, Berreur, Séverine, Bönnemann, Carsten, Bouman, Karlijn, de Bruin, Laura, Caron, Leslie, Damon, Céline, Durbeej, Madeleine, Feijen, Doris, Foley, Reghan, Goncalves, Ana, Rita, Camelo, Clara, Gontijo, Güell, Marc, Haliloğlu, Göknur, Kemaladewi, Dwi, Klein, Andrea, Koleda, Nastia, Minko, Olga, Munell, Francina, Nebermann, Tim, Pini, Veronica, Previtali, Stefano, Roos, Andreas, Rüegg, Markus, Sarkozy, Anna, Seferian, Andrea, Stepniewski, Jacek, van Straten, Emma, van Tienen, Florence, Quijano-Roy, Susana, Voermans, Nicol, West, Alexia, Yurchenco, Peter, Moy, Justin, Almeida, Cristina, Becker, Johannes, Gill, Louise

المساهمون: Universität Ulm - Ulm University Ulm, Allemagne, Universitätsklinikum Ulm - University Hospital of Ulm, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), LAMA2 France, National Institute of Neurological Disorders and Stroke Bethesda (NINDS), National Institutes of Health Bethesda, MD, USA (NIH), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU), Skane University Hospital Lund, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), STIM/AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Horizon 2020LAMA2 FranceImpulsaT SpainVoor Sara, the Netherlands, European Project: 825575,EJP RD

المصدر: ISSN: 0960-8966 ; Neuromuscular Disorders.

مصطلحات موضوعية: LAMA2, muscular dystrophy, rare diseases, natural history, patient-advocacy, therapy, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/grantAgreement//825575/EU/ EJP Rare Diseases initiative/EJP RD; hal-04546346; https://amu.hal.science/hal-04546346Test; https://amu.hal.science/hal-04546346/documentTest; https://amu.hal.science/hal-04546346/file/2024.LAMA2%20Barcelona.publication.pdfTest

الإتاحة: https://doi.org/10.1016/j.nmd.2024.01.001Test
https://amu.hal.science/hal-04546346Test
https://amu.hal.science/hal-04546346/documentTest
https://amu.hal.science/hal-04546346/file/2024.LAMA2%20Barcelona.publication.pdfTest

المؤلفون: Falcetta, Denis, Quirim, Sandrine, Cocchiararo, Ilaria, Chabry, Florent, Théodore, Marine, Stiefvater, Adeline, Lin, Shuo, Tintignac, Lionel, Ivanek, Robert, Kinter, Jochen, Rüegg, Markus A., Sinnreich, Michael, Castets, Perrine

مصطلحات موضوعية: Genetics, FOS Biological sciences

الإتاحة: https://doi.org/10.6084/m9.figshare.c.7243953Test
https://springernature.figshare.com/collections/CaMKII_deregulation_contributes_to_neuromuscular_junction_destabilization_in_Myotonic_Dystrophy_type_I/7243953Test

المؤلفون: Falcetta, Denis, Quirim, Sandrine, Cocchiararo, Ilaria, Chabry, Florent, Théodore, Marine, Stiefvater, Adeline, Lin, Shuo, Tintignac, Lionel, Ivanek, Robert, Kinter, Jochen, Rüegg, Markus A., Sinnreich, Michael, Castets, Perrine

مصطلحات موضوعية: Genetics, FOS Biological sciences

العلاقة: https://dx.doi.org/10.6084/m9.figshare.25865046Test; https://dx.doi.org/10.1093/hmg/ddl132Test; https://dx.doi.org/10.1093/emboj/19.17.4439Test; https://dx.doi.org/10.1002/ana.23992Test; https://dx.doi.org/10.1371/journal.pone.0033218Test; https://dx.doi.org/10.1038/mt.2012.222Test; https://dx.doi.org/10.1523/jneurosci.3309-10.2010Test; https://dx.doi.org/10.1016/j.cellsig.2003.09.006Test; https://dx.doi.org/10.1091/mbc.e08-07-0759Test; https://dx.doi.org/10.1074/jbc.m109864200Test; https://dx.doi.org/10.1093/brain/84.1.75Test; https://dx.doi.org/10.1001/archneur.1973.00490280027003Test; https://dx.doi.org/10.1186/1749-8104-7-7Test; https://dx.doi.org/10.1001/archneur.1976.00500070027005Test; https://dx.doi.org/10.1016/0022-510xTest(77)90068-5; https://dx.doi.org/10.1016/j.nmd.2006.12.015Test; https://dx.doi.org/10.1371/journal.pone.0107324Test; https://dx.doi.org/10.1126/science.289.5485.1769Test; https://dx.doi.org/10.1126/science.1088583Test; https://dx.doi.org/10.1038/s41467-019-11227-4Test

الإتاحة: https://doi.org/10.6084/m9.figshare.25865046.v110.6084/m9.figshare.2586504610.1093/hmg/ddl13210.1093/emboj/19.17.443910.1002/ana.2399210.1371/journal.pone.003321810.1038/mt.2012.22210.1523/jneurosci.3309-10.201010.1016/j.cellsig.2003.09.00610.1091/mbc.e08-07-075910.1074/jbc.m10986420010.1093/brain/84.1.7510.1001/archneur.1973.0049028002700310.1186/1749-8104-7-710.1001/archneur.1976.0050007002700510.1016/0022-510xTest(77)90068-510.1016/j.nmd.2006.12.01510.1371/journal.pone.010732410.1126/science.289.5485.176910.1126/science.108858310.1038/s41467-019-11227-4
https://springernature.figshare.com/articles/journal_contribution/Additional_file_1_of_CaMKII_deregulation_contributes_to_neuromuscular_junction_destabilization_in_Myotonic_Dystrophy_type_I/25865046/1Test

المؤلفون: Thürkauf, Marco, Lin, Shuo, Oliveri, Filippo, Grimm, Dirk, Platt, Randall J., Rüegg, Markus A.

وصف الملف: application/pdf

العلاقة: https://edoc.unibas.ch/95960/1/20231012124623_6527ce7f6ca6f.pdfTest; Thürkauf, Marco and Lin, Shuo and Oliveri, Filippo and Grimm, Dirk and Platt, Randall J. and Rüegg, Markus A. (2023) Fast, multiplexable and efficient somatic gene deletions in adult mouse skeletal muscle fibers using AAV-CRISPR/Cas9. Nature communications, 14 (1). p. 6116.; info:pmid/37777530; urn:ISSN:2041-1723

الإتاحة: https://doi.org/10.1038/s41467-023-41769-7Test
https://edoc.unibas.ch/95960Test/
https://edoc.unibas.ch/95960/1/20231012124623_6527ce7f6ca6f.pdfTest

المؤلفون: Reinhard, Judith R., Porrello, Emanuela, Lin, Shuo, Pelczar, Pawel, Previtali, Stefano C., Rüegg, Markus A.

وصف الملف: application/pdf

العلاقة: https://edoc.unibas.ch/94242/1/pgad083.pdfTest; Reinhard, Judith R. and Porrello, Emanuela and Lin, Shuo and Pelczar, Pawel and Previtali, Stefano C. and Rüegg, Markus A. (2023) Nerve pathology is prevented by linker proteins in mouse models for LAMA2-related muscular dystrophy. PNAS Nexus, 2 (4). pgad083.; urn:ISSN:2752-6542

الإتاحة: https://doi.org/10.1093/pnasnexus/pgad083Test
https://edoc.unibas.ch/94242Test/
https://edoc.unibas.ch/94242/1/pgad083.pdfTest

المؤلفون: Blandino-Rosano, Manuel, Louzada, Ruy Andrade, Werneck-De-Castro, Joao Pedro, Lubaczeuski, Camila, Almaça, Joana, Rüegg, Markus A., Hall, Michael N., Leibowitz, Gil, Bernal-Mizrachi, Ernesto

المساهمون: National Institutes of Health, NIDDK

المصدر: Molecular Metabolism ; volume 75, page 101769 ; ISSN 2212-8778

مصطلحات موضوعية: Cell Biology, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.molmet.2023.101769Test
https://api.elsevier.com/content/article/PII:S2212877823001035?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2212877823001035?httpAccept=text/plainTest

المؤلفون: Thürkauf, Marco, Lin, Shuo, Oliveri, Filippo, Grimm, Dirk, Platt, Randall J., Rüegg, Markus A.

وصف الملف: application/pdf

العلاقة: https://edoc.unibas.ch/93769/1/20230222144936_63f61d70cbdb5.pdfTest; Thürkauf, Marco and Lin, Shuo and Oliveri, Filippo and Grimm, Dirk and Platt, Randall J. and Rüegg, Markus A. (2023) Fast, multiplexable and highly efficient somatic gene deletions in adult mouse skeletal muscle fibers using AAV-CRISPR/Cas9.

الإتاحة: https://doi.org/10.1101/2023.02.20.529232Test
https://edoc.unibas.ch/93769Test/
https://edoc.unibas.ch/93769/1/20230222144936_63f61d70cbdb5.pdfTest

المؤلفون: Delezie, Julien, Weihrauch, Martin, Maier, Geraldine, Tejero, Rocío, Ham, Daniel J., Gill, Jonathan F., Karrer-Cardel, Bettina, Rüegg, Markus A., Tabares, Lucía, Handschin, Christoph

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2019 Aug 01. 116(32), 16111-16120.

الوصول الحر: https://www.jstor.org/stable/26848471Test

المؤلفون: Ham, Daniel J., Börsch, Anastasiya, Chojnowska, Kathrin, Lin, Shuo, Leuchtmann, Aurel B., Ham, Alexander S., Thürkauf, Marco, Delezie, Julien, Furrer, Regula, Burri, Dominik, Sinnreich, Michael, Handschin, Christoph, Tintignac, Lionel A., Zavolan, Mihaela, Mittal, Nitish, Rüegg, Markus A.

وصف الملف: application/pdf

العلاقة: https://edoc.unibas.ch/88210/1/s41467-022-29714-6.pdfTest; Ham, Daniel J. and Börsch, Anastasiya and Chojnowska, Kathrin and Lin, Shuo and Leuchtmann, Aurel B. and Ham, Alexander S. and Thürkauf, Marco and Delezie, Julien and Furrer, Regula and Burri, Dominik and Sinnreich, Michael and Handschin, Christoph and Tintignac, Lionel A. and Zavolan, Mihaela and Mittal, Nitish and Rüegg, Markus A. (2022) Distinct and additive effects of calorie restriction and rapamycin in aging skeletal muscle. Nature Communications, 13. p. 2025.; info:pmid/35440545; urn:ISSN:2041-1723

الإتاحة: https://doi.org/10.1038/s41467-022-29714-6Test
https://edoc.unibas.ch/88210Test/
https://edoc.unibas.ch/88210/1/s41467-022-29714-6.pdfTest

المؤلفون: Blandino-Rosano, Manuel, Scheys, Joshua O., Werneck-de-Castro, Joao Pedro, Louzada, Ruy A., Almaça, Joana, Leibowitz, Gil, Rüegg, Markus A., Hall, Michael N., Bernal-Mizrachi, Ernesto

وصف الملف: application/pdf

العلاقة: https://edoc.unibas.ch/90150/1/ajpendo.00076.2022.pdfTest; Blandino-Rosano, Manuel and Scheys, Joshua O. and Werneck-de-Castro, Joao Pedro and Louzada, Ruy A. and Almaça, Joana and Leibowitz, Gil and Rüegg, Markus A. and Hall, Michael N. and Bernal-Mizrachi, Ernesto. (2022) Novel roles of mTORC2 in regulation of insulin secretion by actin filament remodeling. American Journal of Physiology, Endocrinology and Metabolism, 323 (2). E133-E144.; info:pmid/35723227; urn:ISSN:1522-1555

الإتاحة: https://doi.org/10.1152/ajpendo.00076.2022Test
https://edoc.unibas.ch/90150Test/
https://edoc.unibas.ch/90150/1/ajpendo.00076.2022.pdfTest