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: 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: 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

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: 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

المؤلفون: Han, Jay J, De Bie, Evan, Nicorici, Alina, Abresch, Richard T, Bajcsy, Ruzena, Kurillo, Gregorij

المصدر: Muscle & Nerve. 52(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Facioscapulohumeral Muscular Dystrophy, Muscular Dystrophy, Clinical Research, Rare Diseases, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Adolescent, Adult, Aged, Analysis of Variance, Case-Control Studies, Cohort Studies, Female, Humans, Isometric Contraction, Male, Middle Aged, Movement, Muscle Strength, Muscle Strength Dynamometer, Muscular Dystrophy, Facioscapulohumeral, Range of Motion, Articular, Remote Sensing Technology, Reproducibility of Results, Statistics as Topic, Upper Extremity, Young Adult, FSHD, Kinect, dynamometry, reachable workspace, upper extremity, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3t19w988Test

المؤلفون: Han, Jay J, Kurillo, Gregorij, Abresch, Richard T, Bie, Evan, Nicorici, Alina, Bajcsy, Ruzena

المصدر: Muscle & Nerve. 51(2)

مصطلحات موضوعية: Neurosciences, Muscular Dystrophy, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Facioscapulohumeral Muscular Dystrophy, Rare Diseases, Adult, Aged, Case-Control Studies, Cohort Studies, Female, Functional Laterality, Humans, Male, Middle Aged, Movement, Muscle, Skeletal, Muscular Dystrophy, Facioscapulohumeral, Range of Motion, Articular, Remote Sensing Technology, Upper Extremity, function, FSHD, kinect reachable workspace, upper extremity, Medical and Health Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5dr9x7t2Test

المؤلفون: Salort-Campana, E., Fatehi, F., Beloribi-Djefaflia, S., Roche, S., Nguyen, K., Bernard, R., Cintas, P., Solé, G., Bouhour, F., Ollagnon, E., Sacconi, S., Echaniz-Laguna, A., Kuntzer, T., Levy, N., Magdinier, F., Attarian, S.

المصدر: International journal of molecular sciences, vol. 21, no. 6, pp. 2221

مصطلحات موضوعية: Adult, Alleles, Attention, Cross-Sectional Studies, DNA Methylation, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Muscular Dystrophy, Facioscapulohumeral/diagnosis, Facioscapulohumeral/genetics, Penetrance, Phenotype, Repetitive Sequences, Nucleic Acid, Severity of Illness Index, FSHD, Facioscapulohumeral muscular dystrophy, association, correlation, methylation

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32210100; info:eu-repo/semantics/altIdentifier/eissn/1422-0067; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5C6CF11416921; https://serval.unil.ch/notice/serval:BIB_5C6CF1141692Test; urn:issn:1422-0067; https://serval.unil.ch/resource/serval:BIB_5C6CF1141692.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5C6CF11416921Test

الإتاحة: https://doi.org/10.3390/ijms21062221Test
https://serval.unil.ch/notice/serval:BIB_5C6CF1141692Test
https://serval.unil.ch/resource/serval:BIB_5C6CF1141692.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5C6CF11416921Test

المؤلفون: Sandrine Arbogast, Heinrich Kotzur, Corinna Frank, Nathalie Compagnone, Thibault Sutra, Fabien Pillard, Sylvia Pietri, Nisrine Hmada, Daouda Moustapha Abba Moussa, Jamie Bride, Sarah Françonnet, Jacques Mercier, Jean-Paul Cristol, Marie-Christine Dabauvalle, Dalila Laoudj-Chenivesse

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), University of Würzburg, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Chimie Radicalaire (ICR), Aix Marseille Université (AMU)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)

المصدر: Redox Biology
Redox Biology, 2022, pp.102450. ⟨10.1016/j.redox.2022.102450⟩

مصطلحات موضوعية: Adenine nucleotide translocase type 1 (ANT1), [SDV]Life Sciences [q-bio], Organic Chemistry, Clinical Biochemistry, Adenine Nucleotide Translocator 1, Muscle Development, Biochemistry, Muscular Dystrophy, Facioscapulohumeral, Facioscapulohumeral muscular dystrophy (FSHD), Myoblasts, Xenopus laevis, Metabolism, Oxidative stress, Muscle morphological abnormalities, Humans, Mitochondrial function, Muscle, Skeletal, Reactive Oxygen Species, Primary muscle cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63d200259241b05f778013c70f7bc980Test
https://hal.science/hal-03762323Test