المؤلفون: Premi Haynes, Karol Bomsztyk, Daniel G. Miller

المصدر: Epigenetics & Chromatin, Vol 11, Iss 1, Pp 1-14 (2018)

مصطلحات موضوعية: FSHD, Facioscapulohumeral, Muscular, Dystrophy, DUX4, Epigenetics, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13072-018-0215-zTest; https://doaj.org/toc/1756-8935Test

الوصول الحر: https://doaj.org/article/0ab0f130c6d04aaa9e7ebc24650405afTest

المؤلفون: Falzarano, Maria Sofia, Argenziano, Monica, Marsollier, Anne Chalotte, Mariot, Virginie, Rossi, Davide, Selvatici, Rita, Dumonceaux, Julie, Cavalli, Roberta, Ferlini, Alessandra

المساهمون: Falzarano, Maria Sofia, Argenziano, Monica, Marsollier, Anne Chalotte, Mariot, Virginie, Rossi, Davide, Selvatici, Rita, Dumonceaux, Julie, Cavalli, Roberta, Ferlini, Alessandra

مصطلحات موضوعية: DUX4 silencing, FSHD, PMO AON, nanobubbles

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32679000; info:eu-repo/semantics/altIdentifier/wos/WOS:000552134200001; volume:31; issue:3; firstpage:201; lastpage:207; numberofpages:7; journal:NUCLEIC ACID THERAPEUTICS; http://hdl.handle.net/11392/2423266Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107636097; https://iris.unito.it/retrieve/handle/2318/1772923/753346/Falzarano_et_al._NAT_2020.pdfTest

الإتاحة: https://doi.org/10.1089/nat.2020.0862Test
http://hdl.handle.net/11392/2423266Test
https://iris.unito.it/retrieve/handle/2318/1772923/753346/Falzarano_et_al._NAT_2020.pdfTest

المؤلفون: Schätzl, Teresa, Kaiser, Lars, Deigner, Hans-Peter

المصدر: http://lobid.org/resources/99370675069506441Test#!, 16(1):129.

مصطلحات موضوعية: Clinical genetics and genomics, Downstream signalling, Epigenetic, Humans [MeSH], Facioscapulohumeral muscular dystrophy (FSHD), Homeodomain Proteins/genetics [MeSH], Muscular Dystrophy, Facioscapulohumeral/genetics [MeSH], Double Homeobox 4 (, Transcriptional Activation [MeSH], Signal Transduction [MeSH], Review, Treatment strategies, Muscle, Skeletal/metabolism [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6464751Test; https://doi.org/10.1186/s13023-021-01760-1Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953708Test/

الإتاحة: https://doi.org/10.1186/s13023-021-01760-1Test
https://repository.publisso.de/resource/frl:6464751Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953708Test/

المؤلفون: Vercelli L., Mele F., Ruggiero L., Sera F., Tripodi S., Ricci G., Vallarola A., Villa L., Govi M., Maranda L., Di Muzio A., Scarlato M., Bucci E., Maggi L., Rodolico C., Moggio M., Filosto M., Antonini G., Previtali S., Angelini C., Berardinelli A., Pegoraro E., Siciliano G., Tomelleri G., Santoro L., Mongini T., Tupler R.

المساهمون: Vercelli, L., Mele, F., Ruggiero, L., Sera, F., Tripodi, S., Ricci, G., Vallarola, A., Villa, L., Govi, M., Maranda, L., Di Muzio, A., Scarlato, M., Bucci, E., Maggi, L., Rodolico, C., Moggio, M., Filosto, M., Antonini, G., Previtali, S., Angelini, C., Berardinelli, A., Pegoraro, E., Siciliano, G., Tomelleri, G., Santoro, L., Mongini, T., Tupler, R.

مصطلحات موضوعية: clinical categorie, d4z4 reduced allele, follow-up, fshd

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32813049; info:eu-repo/semantics/altIdentifier/wos/WOS:000561058200002; volume:268; issue:1; firstpage:356; lastpage:366; numberofpages:11; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11573/1529640Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089530568

الإتاحة: https://doi.org/10.1007/s00415-020-10144-7Test
http://hdl.handle.net/11573/1529640Test

المؤلفون: Karpukhina, Anna, Tiukacheva, Eugenia, Dib, Carla, Vassetzky, Yegor, S, Dokudovskaya, Svetlana

المساهمون: Aspects métaboliques et systémiques de l'oncogénèse pour de nouvelles approches thérapeutiques (METSY), Institut Gustave Roussy (IGR)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1471-4914 ; Trends in Molecular Medicine ; https://hal.science/hal-03375995Test ; Trends in Molecular Medicine, 2021, 27 (6), pp.588 - 601. ⟨10.1016/j.molmed.2021.03.008⟩.

مصطلحات موضوعية: FSHD, leukemia, sarcoma, DUX4, gene regulation, epigenetics, Manuscript Click here to access/download, Manuscript, DUX4 regulation R1.docx, [SDV]Life Sciences [q-bio]

العلاقة: hal-03375995; https://hal.science/hal-03375995Test; https://hal.science/hal-03375995/documentTest; https://hal.science/hal-03375995/file/2021%20Karpukhina%20Trends.pdfTest

الإتاحة: https://doi.org/10.1016/j.molmed.2021.03.008Test
https://hal.science/hal-03375995Test
https://hal.science/hal-03375995/documentTest
https://hal.science/hal-03375995/file/2021%20Karpukhina%20Trends.pdfTest

المؤلفون: Karpukhina, Anna, Galkin, Ivan, Ma, Yinxing, Dib, Carla, Zinovkin, Roman, Pletjushkina, Olga, Chernyak, Boris, Popova, Ekaterina, Vassetzky, Yegor

المساهمون: Aspects métaboliques et systémiques de l'oncogénèse pour de nouvelles approches thérapeutiques (METSY), Institut Gustave Roussy (IGR)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Koltzov Institute of Developmental Biology, Russian Academy of Science (RAS), Lomonosov Moscow State University (MSU), Belozersky Institute of Physico-Chemical Biology

المصدر: ISSN: 2213-2317 ; Redox Biology ; https://hal.science/hal-03375945Test ; Redox Biology, 2021, 43, pp.102008. ⟨10.1016/j.redox.2021.102008⟩.

مصطلحات موضوعية: DUX4, FSHD, Oxidative stress, Mitochondrial ROS, Muscle differentiation, PITX1, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]

العلاقة: hal-03375945; https://hal.science/hal-03375945Test; https://hal.science/hal-03375945/documentTest; https://hal.science/hal-03375945/file/2021%20Karpukhina%20RB.pdfTest

الإتاحة: https://doi.org/10.1016/j.redox.2021.102008Test
https://hal.science/hal-03375945Test
https://hal.science/hal-03375945/documentTest
https://hal.science/hal-03375945/file/2021%20Karpukhina%20RB.pdfTest

المؤلفون: Bettio C., Salsi V., Orsini M., Calanchi E., Magnotta L., Gagliardelli L., Kinoshita J., Bergamaschi S., Tupler R.

المساهمون: Bettio, C., Salsi, V., Orsini, M., Calanchi, E., Magnotta, L., Gagliardelli, L., Kinoshita, J., Bergamaschi, S., Tupler, R.

مصطلحات موضوعية: Data collection, Data integration, FSHD, Rare disease registry, Rare disease, Delivery of Health Care, Human, Italy, Precision Medicine, Muscular Dystrophy, Facioscapulohumeral, Registries

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34736505; info:eu-repo/semantics/altIdentifier/wos/WOS:000714593800002; volume:16; issue:1; firstpage:470; lastpage:474; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11380/1255799Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118700085

الإتاحة: https://doi.org/10.1186/s13023-021-02100-zTest
http://hdl.handle.net/11380/1255799Test

المؤلفون: Mariot, V, Joubert, R, Le Gall, L, Sidlauskaite, E, Hourde, C, Duddy, W, Voit, T, Bencze, M, Dumonceaux, J

المصدر: Journal of Cachexia, Sarcopenia and Muscle (2021) (In press).

مصطلحات موضوعية: DUX4, FSHD, Facioscapulohumeral dystrophy, Necroptosis, Ripk3

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10137222/1/jcsm.12813.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10137222Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10137222/1/jcsm.12813.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10137222Test/

المؤلفون: Cinzia Bettio (11651582), Valentina Salsi (2617737), Mirko Orsini (11651585), Enrico Calanchi (11651588), Luca Magnotta (11651591), Luca Gagliardelli (11651594), June Kinoshita (29930), Sonia Bergamaschi (11651597), Rossella Tupler (11651600)

مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Sociology, Computational Biology, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare disease registry, Data collection, Data integration, FSHD, Rare diseases

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_The_Italian_National_Registry_for_FSHD_an_enhanced_data_integration_and_an_analytics_framework_towards_Smart_Health_Care_and_Precision_Medicine_for_a_rare_disease/16935761Test

الإتاحة: https://doi.org/10.6084/m9.figshare.16935761.v1Test

المؤلفون: Cinzia Bettio (11651582), Valentina Salsi (2617737), Mirko Orsini (11651585), Enrico Calanchi (11651588), Luca Magnotta (11651591), Luca Gagliardelli (11651594), June Kinoshita (29930), Sonia Bergamaschi (11651597), Rossella Tupler (11651600)

مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Sociology, Computational Biology, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare disease registry, Data collection, Data integration, FSHD, Rare diseases

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_2_of_The_Italian_National_Registry_for_FSHD_an_enhanced_data_integration_and_an_analytics_framework_towards_Smart_Health_Care_and_Precision_Medicine_for_a_rare_disease/16935764Test

الإتاحة: https://doi.org/10.6084/m9.figshare.16935764.v1Test