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: 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: 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: 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

المؤلفون: Matthew V Cowley, Johanna Pruller, Massimo Ganassi, Peter S Zammit, Christopher RS Banerji

المصدر: eLife, Vol 12 (2023)

مصطلحات موضوعية: facioscapulohumeral muscular dystrophy, DUX4, stochastic gene expression, FSHD, muscle, cellular automaton, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/88345Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/dd33421a7a064060bd67e70bcede832cTest

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

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: 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

العلاقة: https://www.mdpi.com/2227-9059/11/10/2683Test; https://doaj.org/toc/2227-9059Test

الوصول الحر: https://doaj.org/article/51286032f8f3442ebfcdb580ce159e02Test

المؤلفون: Campbell, Amy E, Arjomand, Jamshid, King, Oliver D, Tawil, Rabi, Jagannathan, Sujatha

المساهمون: Neurology

المصدر: Journal of neuromuscular diseases ; 10 ; 6 ; 1031 ; 1040 ; United States ; Netherlands

مصطلحات موضوعية: DUX4, FSHD, biomarkers, facioscapulohumeral muscular dystrophy, proteomics

العلاقة: Journal of Neuromuscular Diseases; https://doi.org/10.3233/jnd-221636Test; Campbell AE, Arjomand J, King OD, Tawil R, Jagannathan S. A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics. J Neuromuscul Dis. 2023;10(6):1031-1040. doi:10.3233/JND-221636. PMID: 37899061; PMCID: PMC10657687.; http://hdl.handle.net/20.500.14038/52816Test

الإتاحة: https://doi.org/10.3233/JND-221636Test
https://doi.org/20.500.14038/52816Test
https://doi.org/10.3233/jnd-221636Test
https://hdl.handle.net/20.500.14038/52816Test

المؤلفون: Lemmers, Richard JLF, Butterfield, Russell, van der Vliet, Patrick J, de Bleecker, Jan L, van der Pol, Ludo, Dunn, Diane M, Erasmus, Corrie E, D'Hooghe, Marc, Verhoeven, Kristof, Balog, Judit, Bigot, Anne, van Engelen, Baziel, Statland, Jeffrey, Bugiardini, Enrico, van der Stoep, Nienke, Evangelista, Teresinha, Marini-Bettolo, Chiara, van den Bergh, Peter, Tawil, Rabi, Voermans, Nicol C, Vissing, John, Weiss, Robert B, van der Maarel, Silvère M

المصدر: Brain awad312. (2023)

مصطلحات موضوعية: D4Z4, DUX4, FSHD, duplications, facioscapulohumeral muscular dystrophy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10185895/1/awad312.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10185895Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10185895/1/awad312.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10185895Test/