المؤلفون: Alec M. DeSimone, Justin Cohen, Monkol Lek, Angela Lek

المصدر: Disease Models & Mechanisms, Vol 13, Iss 10 (2020)

مصطلحات موضوعية: fshd, dux4, cellular model, animal model, xenograft, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

العلاقة: http://dmm.biologists.org/content/13/10/dmm046904Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test

الوصول الحر: https://doaj.org/article/1547ba23a69a4511ade369dd9ca42413Test

المؤلفون: Kathryn A. Vera, Mary McConville, Michael Kyba, Manda L. Keller-Ross

المصدر: Frontiers in Physiology, Vol 11 (2020)

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/article/10.3389/fphys.2020.01008/fullTest; https://doaj.org/toc/1664-042XTest

الوصول الحر: https://doaj.org/article/43ad264207c24996a1faac8f33264bdbTest

المؤلفون: Chen, Kelly Murphy, Aiping Zhang, Adam J. Bittel, Yi-Wen

المصدر: Journal of Personalized Medicine; Volume 13; Issue 7; Pages: 1040

مصطلحات موضوعية: facioscapulohumeral, muscular, dystrophy, FSHD, FLExDUX4, DUX4, muscle, TDP-43

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::c78f6f1ad6102c4432bd5de9a2d12891Test

المؤلفون: Fayssoil, Abdallah, Stojkovic, Tanya, Ogna, Adam, Laforet, Pascal, Prigent, Helene, Lofaso, Frederic, Orlikowski, David, Bassez, Guillaume, Eymard, Bruno, Behin, Anthony

المساهمون: 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), Hôpital Raymond Poincaré AP-HP, Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0025-7974.

مصطلحات موضوعية: Diaphragm function evaluation FSHD = facioscapulohumeral dystrophy MIP = maximal inspiratory pressure SNIP = sniff nasal inspiratory pressure VC = vital capacity diaphragm weakness, FSHD1, ultrasound, Diaphragm function evaluation FSHD = facioscapulohumeral dystrophy, MIP = maximal inspiratory pressure, SNIP = sniff nasal inspiratory pressure, VC = vital capacity diaphragm weakness, MESH: Diaphragm, MESH: Female, MESH: Humans, MESH: Middle Aged, MESH: Muscular Dystrophy, Facioscapulohumeral, MESH: Sitting Position, MESH: Supine Position, MESH: Ultrasonography, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30681553; hal-04459938; https://hal.science/hal-04459938Test; https://hal.science/hal-04459938/documentTest; https://hal.science/hal-04459938/file/assessment_of_diaphragm_motion_using.3.pdfTest; PUBMED: 30681553; PUBMEDCENTRAL: PMC6358327

الإتاحة: https://doi.org/10.1097/MD.0000000000013887Test
https://hal.science/hal-04459938Test
https://hal.science/hal-04459938/documentTest
https://hal.science/hal-04459938/file/assessment_of_diaphragm_motion_using.3.pdfTest

المؤلفون: Nikolic A., Jones T. I., Govi M., Mele F., Maranda L., Sera F., Ricci G., Ruggiero L., Vercelli L., Portaro S., Villa L., Fiorillo C., Maggi L., Santoro L., Antonini G., Filosto M., Moggio M., Angelini C., Pegoraro E., Berardinelli A., Maioli M. A., D'Angelo G., Di Muzio A., Siciliano G., Tomelleri G., D'Esposito M., Ragione F. D., Brancaccio A., Piras R., Rodolico C., Mongini T., Magdinier F., Salsi V., Jones P. L., Tupler R.

المساهمون: Nikolic, A., Jones, T. I., Govi, M., Mele, F., Maranda, L., Sera, F., Ricci, G., Ruggiero, L., Vercelli, L., Portaro, S., Villa, L., Fiorillo, C., Maggi, L., Santoro, L., Antonini, G., Filosto, M., Moggio, M., Angelini, C., Pegoraro, E., Berardinelli, A., Maioli, M. A., D'Angelo, G., Di Muzio, A., Siciliano, G., Tomelleri, G., D'Esposito, M., Ragione, F. D., Brancaccio, A., Piras, R., Rodolico, C., Mongini, T., Magdinier, F., Salsi, V., Jones, P. L., Tupler, R.

مصطلحات موضوعية: D4Z4 reduced allele, DNA methylation, FSHD, genotype-phenotype correlation, molecular diagnosi, allele, biological variation, population, family, genetic predisposition to disease, human, muscular dystrophy, facioscapulohumeral, pedigree, ROC curve, epigenesis, genetic, epigenomic, genetic association studie, genotype, phenotype

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32290091; info:eu-repo/semantics/altIdentifier/wos/WOS:000535574200377; volume:21; issue:7; firstpage:2635; lastpage:2652; numberofpages:18; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11573/1529636Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083412946

الإتاحة: https://doi.org/10.3390/ijms21072635Test
http://hdl.handle.net/11573/1529636Test

المؤلفون: Ricci G., Mele F., Govi M., Ruggiero L., Sera F., Vercelli L., Bettio C., Santoro L., Mongini T., Villa L., Moggio M., Filosto M., Scarlato M., Previtali S. C., Tripodi S. M., Pegoraro E., Telese R., Di Muzio A., Rodolico C., Bucci E., Antonini G., D'Angelo M. G., Berardinelli A., Maggi L., Piras R., Maioli M. A., Siciliano G., Tomelleri G., Angelini C., Tupler R.

المساهمون: Ricci, G., Mele, F., Govi, M., Ruggiero, L., Sera, F., Vercelli, L., Bettio, C., Santoro, L., Mongini, T., Villa, L., Moggio, M., Filosto, M., Scarlato, M., Previtali, S. C., Tripodi, S. M., Pegoraro, E., Telese, R., Di Muzio, A., Rodolico, C., Bucci, E., Antonini, G., D'Angelo, M. G., Berardinelli, A., Maggi, L., Piras, R., Maioli, M. A., Siciliano, G., Tomelleri, G., Angelini, C., Tupler, R.

مصطلحات موضوعية: FSHD, Genotype-Phenotype, D4Z4 borderline alleles

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33303865; info:eu-repo/semantics/altIdentifier/wos/WOS:000609195000004; volume:10; issue:1; firstpage:21648; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11573/1529642Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097388448

الإتاحة: https://doi.org/10.1038/s41598-020-78578-7Test
http://hdl.handle.net/11573/1529642Test

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: Monforte M., Urbani A., Ricci E., Tasca G.

المساهمون: Carregari, V. C., Monforte, Mauro, Di Maio, G., Pieroni, L., Urbani, Andrea, Ricci, Enzo, Tasca, Giorgio

مصطلحات موضوعية: Biomarkers, Facioscapulohumeral muscular dystrophy, FSHD, Inflammatory response, Proteomics, Settore MED/26 - NEUROLOGIA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33396627; info:eu-repo/semantics/altIdentifier/wos/WOS:000606193200001; volume:22; issue:1; firstpage:1; lastpage:17; numberofpages:17; issueyear:2020; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/10807/171419Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099331910

الإتاحة: https://doi.org/10.3390/ijms22010290Test
http://hdl.handle.net/10807/171419Test

المؤلفون: Mariot, V, Joubert, R, Marsollier, A-C, Hourde, C, Voit, T, Dumonceaux, J

المصدر: Molecular Therapy - Nucleic Acids , 22 pp. 1191-1199. (2020)

مصطلحات موضوعية: FSHD, Facioscapulohumeral dystrophy, DUX4, Therapy, Muscle, Decoy, Neuromuscular disease

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10126272/1/1-s2.0-S2162253120303401-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10126272Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10126272/1/1-s2.0-S2162253120303401-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10126272Test/

المؤلفون: Joubert, R, Mariot, V, Charpentier, M, Concordet, JP, Dumonceaux, J

المصدر: Journal of Personalized Medicine , 11 (1) , Article 7. (2020)

مصطلحات موضوعية: CRISPR-Cas9, D4Z4, DUX4, FSHD, TALEN, facioscapulohumeral dystrophy, gene editing, muscle, polyadenylation

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10118510/1/jpm-11-00007.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118510Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10118510/1/jpm-11-00007.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10118510Test/