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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: 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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3دورية 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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4دورية 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
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5دورية أكاديمية
المؤلفون: Shaw, Natalie, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère, Lemmers, Richard, van der Stoep, Nienke, Vliet, Patrick, Moore, Steven, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Kimonis, Virginia, Mozaffar, Tahseen
المصدر: Journal of Medical Genetics. 56(10)
مصطلحات موضوعية: ATPase domain, BAMS, D4Z4, DUX4, FSHD, SMCHD1, mutation spectrum, Adenosine Triphosphatases, Choanal Atresia, Chromosomal Proteins, Non-Histone, DNA Methylation, Female, Genetic Variation, Humans, Male, Microphthalmos, Muscular Dystrophy, Facioscapulohumeral, Mutation, Mutation, Missense, Nose, Protein Domains
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/32j9681gTest
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6دورية أكاديمية
المؤلفون: Lemmers, Richard JLF, van der Stoep, Nienke, Vliet, Patrick J van der, Moore, Steven A, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Mozaffar, Tahseen, Kimonis, Virginia, Shaw, Natalie D, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère M
المصدر: Journal of medical genetics. 56(10)
مصطلحات موضوعية: Nose, Humans, Muscular Dystrophy, Facioscapulohumeral, Choanal Atresia, Microphthalmos, Chromosomal Proteins, Non-Histone, DNA Methylation, Mutation, Mutation, Missense, Female, Male, Adenosine Triphosphatases, Genetic Variation, Protein Domains, ATPase domain, BAMS, D4Z4, DUX4, FSHD, SMCHD1, mutation spectrum, Genetics, Muscular Dystrophy, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Facioscapulohumeral Muscular Dystrophy, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0107b4rwTest
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7دورية أكاديمية
المؤلفون: Moyle, Louise A, Blanc, Eric, Jaka, Oihane, Prueller, Johanna, Banerji, Christopher Rs, Tedesco, Francesco Saverio, Harridge, Stephen Dr, Knight, Robert D, Zammit, Peter S
المصدر: eLife. 5(NOVEMBER2016)
مصطلحات موضوعية: Muscles, Cells, Cultured, Myoblasts, Satellite Cells, Skeletal Muscle, Animals, Humans, Mice, Muscular Dystrophy, Facioscapulohumeral, Pyrroles, Indoles, Homeodomain Proteins, Enzyme Inhibitors, Cell Differentiation, Cell Proliferation, Gene Expression, Proto-Oncogene Proteins c-ret, Sunitinib, DUX4, FSHD, RET, cell biology, facioscapulohumeral muscular dystrophy, human, human biology, medicine, mouse, therapy, Biochemistry and Cell Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9n46f1r1Test
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8دورية أكاديمية
المؤلفون: Kathryn Vera, Mary McConville, Michael Kyba, Manda Keller-Ross
المصدر: Frontiers in Physiology, Vol 13 (2022)
مصطلحات موضوعية: FSHD, muscular dystrophy, sarcopenic obesity, appendicular lean mass index, body composition, Physiology, QP1-981
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fphys.2022.908605/fullTest; https://doaj.org/toc/1664-042XTest
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9دورية أكاديمية
المؤلفون: Miguel Anselmo, Shandon Coffman, Mia Larson, Kathryn Vera, Emma Lee, Mary McConville, Michael Kyba, Manda L. Keller‐Ross
المصدر: Physiological Reports, Vol 10, Iss 8, Pp n/a-n/a (2022)
مصطلحات موضوعية: autonomic function, blood pressure, FSHD, heart rate variability, muscular dystrophy, Physiology, QP1-981
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2051-817XTest
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10دورية أكاديمية
المؤلفون: Zheng, Dongxu (author), Wondergem, Annelot (author), Kloet, Susan (author), Willemsen, Iris (author), Balog, Judit (author), Tapscott, Stephen J. (author), Mahfouz, A.M.E.T.A. (author), Van Den Heuvel, Anita (author), Van Der Maarel, Silvère M. (author)
مصطلحات موضوعية: cellular heterogeneity, DUX4, FSHD, muscular dystrophy, single-nucleus RNA-sequencing
العلاقة: http://www.scopus.com/inward/record.url?scp=85182908063&partnerID=8YFLogxKTest; Human Molecular Genetics--0964-6906--20d3eb05-c674-46d4-90b0-c34f4870a88c; http://resolver.tudelft.nl/uuid:7e81ae4d-e29e-4082-a812-287c01562824Test; https://doi.org/10.1093/hmg/ddad186Test
الإتاحة: https://doi.org/10.1093/hmg/ddad186Test
http://resolver.tudelft.nl/uuid:7e81ae4d-e29e-4082-a812-287c01562824Test