-
1دورية 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
-
2دورية أكاديمية
المؤلفون: Stephanie Efthymiou, Richard J. L. F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, Elisa Vegezzi, Sabrina Ravaglia, Lindsay Wilson, Patrick J. van der Vliet, Rinkle Mishra, Alisha Reyaz, Tanveer Ahmad, Rohit Bhatia, James M. Polke, Mv Padma Srivastava, Andrea Cortese, Henry Houlden, Silvère M. van der Maarel, Michael G. Hanna, Enrico Bugiardini
المصدر: Biomolecules, Vol 13, Iss 11, p 1567 (2023)
مصطلحات موضوعية: FSHD, D4Z4 contraction, optical genome mapping, Bionano Genomics, Microbiology, QR1-502
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Christopher D. Sarsons, Dean Gilham, Laura M. Tsujikawa, Sylwia Wasiak, Li Fu, Brooke D. Rakai, Stephanie C. Stotz, Agostina Carestia, Michael Sweeney, Ewelina Kulikowski
المصدر: Biomedicines, Vol 11, Iss 10, p 2683 (2023)
مصطلحات موضوعية: facioscapulohumeral muscular dystrophy, FSHD, DUX4, bromodomain and extra-terminal domain, BET inhibitor, transcriptome, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Efthymiou, Stephanie, Lemmers, Richard JLF, Vishnu, Venugopalan Y, Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J, Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M, Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M, Hanna, Michael G, Bugiardini, Enrico
المصدر: Biomolecules , 13 (11) , Article 1567. (2023)
مصطلحات موضوعية: FSHD, D4Z4 contraction, optical genome mapping, Bionano Genomics
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181347/1/biomolecules-13-01567.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181347Test/
-
5دورية أكاديمية
المؤلفون: Martina Maceroni, Mauro Monforte, Rossella Cariola, Benedetto Falsini, Stanislao Rizzo, Maria Cristina Savastano, Francesco Martelli, Enzo Ricci, Sara Bortolani, Giorgio Tasca, Angelo Maria Minnella
المصدر: Diagnostics, Vol 13, Iss 5, p 982 (2023)
مصطلحات موضوعية: facioscapulohumeral muscular dystrophy (FSHD), retinal vasculopathy, optical coherence tomography-angiography (OCT-A), tortuosity index (TI), vessel density (VD), foveal avascular zone (FAZ), Medicine (General), R5-920
العلاقة: https://www.mdpi.com/2075-4418/13/5/982Test; https://doaj.org/toc/2075-4418Test; https://doaj.org/article/67ed81827bf04f08a0cd80dd7a93f03eTest
الإتاحة: https://doi.org/10.3390/diagnostics13050982Test
https://doaj.org/article/67ed81827bf04f08a0cd80dd7a93f03eTest -
6دورية أكاديمية
المؤلفون: Kelly Murphy, Aiping Zhang, Adam J. Bittel, Yi-Wen Chen
المصدر: Journal of Personalized Medicine, Vol 13, Iss 7, p 1040 (2023)
العلاقة: https://www.mdpi.com/2075-4426/13/7/1040Test; https://doaj.org/toc/2075-4426Test; https://doaj.org/article/76a673f6f43340e4a0d8aa05366622fcTest
الإتاحة: https://doi.org/10.3390/jpm13071040Test
https://doaj.org/article/76a673f6f43340e4a0d8aa05366622fcTest -
7دورية أكاديمية
المؤلفون: Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio, Andrea Termine, Luca Colantoni, Cristina Bax, Juliette Gimenez, Mauro Monforte, Giorgio Tasca, Enzo Ricci, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella, Claudia Strafella
المصدر: Cells, Vol 11, Iss 24, p 4114 (2022)
مصطلحات موضوعية: FSHD, epigenetics, DNA methylation, neuromuscular diseases, biomarker, machine learning, Cytology, QH573-671
وصف الملف: electronic resource
-
8دورية أكاديمية
المؤلفون: Mariacristina Parravano, Eliana Costanzo, Lucilla Barbano, Pasquale Viggiano, Daniele De Geronimo, Giulio Antonelli, Vincenzo Parisi, Monica Varano, Lucia Ziccardi
المصدر: Diagnostics, Vol 12, Iss 12, p 2977 (2022)
مصطلحات موضوعية: FSHD, macular abnormalities, photoreceptor degeneration, Medicine (General), R5-920
وصف الملف: electronic resource
-
9دورية أكاديمية
المؤلفون: Mehdi Ghasemi, Charles P. Emerson, Lawrence J. Hayward
المصدر: Cells, Vol 11, Iss 687, p 687 (2022)
مصطلحات موضوعية: facioscapulohumeral muscular dystrophy (FSHD), double homeobox 4 ( DUX4 ), clinical trial, outcome measures, magnetic resonance imaging (MRI), Cytology, QH573-671
العلاقة: https://www.mdpi.com/2073-4409/11/4/687Test; https://doaj.org/toc/2073-4409Test; https://doaj.org/article/06079d95e9424a85a522ac4b857842b1Test
الإتاحة: https://doi.org/10.3390/cells11040687Test
https://doaj.org/article/06079d95e9424a85a522ac4b857842b1Test -
10دورية أكاديمية
المؤلفون: Charis L. Himeda, Peter L. Jones
المصدر: Journal of Personalized Medicine, Vol 12, Iss 865, p 865 (2022)
مصطلحات موضوعية: facioscapulohumeral muscular dystrophy, FSHD, DUX4, skeletal muscle, muscular dystrophy, gene therapy, Medicine
العلاقة: https://www.mdpi.com/2075-4426/12/6/865Test; https://doaj.org/toc/2075-4426Test; https://doaj.org/article/e261423b5e1246b2bb0b57382c468227Test
الإتاحة: https://doi.org/10.3390/jpm12060865Test
https://doaj.org/article/e261423b5e1246b2bb0b57382c468227Test