المؤلفون: Vandana Ayyar Gupta, Jacqueline M Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Catherine Rye, Mary Chesshyre, Amy Wolfe, Victoria Selby, Anna Mayhew, Elena S Mazzone, Valeria Ricotti, Jean-Yves Hogrel, Erik H Niks, Imelda de Groot, Laurent Servais, Volker Straub, Eugenio Mercuri, Adnan Y Manzur, Francesco Muntoni

المصدر: PLoS ONE, Vol 18, Iss 4, p e0283669 (2023)

مصطلحات موضوعية: Medicine, Science

العلاقة: https://doi.org/10.1371/journal.pone.0283669Test; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/21885a505e0b4afe9114a65409bbe906Test

الإتاحة: https://doi.org/10.1371/journal.pone.0283669Test
https://doaj.org/article/21885a505e0b4afe9114a65409bbe906Test

المؤلفون: Vandana Ayyar Gupta, Jacqueline M. Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Catherine Rye, Mary Chesshyre, Amy Wolfe, Victoria Selby, Anna Mayhew, Elena S. Mazzone, Valeria Ricotti, Jean-Yves Hogrel, Erik H. Niks, Imelda de Groot, Laurent Servais, Volker Straub, Eugenio Mercuri, Adnan Y. Manzur, Francesco Muntoni

المصدر: PLoS ONE, Vol 18, Iss 4 (2023)

مصطلحات موضوعية: Medicine, Science

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10132589/?tool=EBITest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/a350ca5f353944d0a6c92faad79a4f3fTest

الإتاحة: https://doaj.org/article/a350ca5f353944d0a6c92faad79a4f3fTest

المؤلفون: Georgia Stimpson, Sarah Raquq, Mary Chesshyre, Mary Fewtrell, Deborah Ridout, Anna Sarkozy, Adnan Manzur, Vandana Ayyar Gupta, Ramona De Amicis, Francesco Muntoni, Giovanni Baranello, the NorthStar Network

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Duchenne muscular dystrophy, Growth, Isoforms, Glucocorticoids, Prednisolone, Deflazacort, Medicine

العلاقة: https://doi.org/10.1186/s13023-021-02158-9Test; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/9839128fa22d4b0f98c61ed228c910e7Test

الإتاحة: https://doi.org/10.1186/s13023-021-02158-9Test
https://doaj.org/article/9839128fa22d4b0f98c61ed228c910e7Test

المؤلفون: Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giulia Ferrari, Anna Kowala, Yung‐Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 2, Pp 1360-1372 (2022)

مصطلحات موضوعية: Duchenne muscular dystrophy, Isoform, Motor function, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

العلاقة: https://doi.org/10.1002/jcsm.12914Test; https://doaj.org/toc/2190-5991Test; https://doaj.org/toc/2190-6009Test; https://doaj.org/article/f0e9fb8a39b84e67b80fc0751fc0cab9Test

الإتاحة: https://doi.org/10.1002/jcsm.12914Test
https://doaj.org/article/f0e9fb8a39b84e67b80fc0751fc0cab9Test

المؤلفون: Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri

المساهمون: Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34170974; volume:16; firstpage:1; lastpage:13; numberofpages:13; journal:PLOS ONE; http://hdl.handle.net/2318/1806660Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882Test
http://hdl.handle.net/2318/1806660Test

المؤلفون: Georgia Stimpson, Mary Chesshyre, Giovanni Baranello, Francesco Muntoni

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: spinal muscular atrophy, duchenne and becker muscular dystrophy, translational research, trial design, inclusion criteria, matching criteria, Genetics, QH426-470

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.759994/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/3eef4adc91d2442cbee9b941935f8fa9Test

الإتاحة: https://doi.org/10.3389/fgene.2021.759994Test
https://doaj.org/article/3eef4adc91d2442cbee9b941935f8fa9Test

المؤلفون: Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri

المصدر: PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)

مصطلحات موضوعية: Medicine, Science

العلاقة: https://doi.org/10.1371/journal.pone.0253882Test; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/be2f7562560244a9a2a56400fc1fd6e8Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882Test
https://doaj.org/article/be2f7562560244a9a2a56400fc1fd6e8Test

المؤلفون: Federica Trucco, Deborah Ridout, Joana Domingos, Kate Maresh, Mary Chesshyre, Pinki Munot, Anna Sarkozy, Stephanie Robb, Rosaline Quinlivan, Mollie Riley, Colin Wallis, Elaine Chan, Francois Abel, Silvana De Lucia, Jean‐Yves Hogrel, Erik H. Niks, Imelda de Groot, Laurent Servais, Volker Straub, Valeria Ricotti, Adnan Manzur, Francesco Muntoni

المساهمون: Trucco, Federica, Ridout, Deborah, Domingos, Joana, Maresh, Kate, Chesshyre, Mary, Munot, Pinki, Sarkozy, Anna, Robb, Stephanie, Quinlivan, Rosaline, Riley, Mollie, Wallis, Colin, Chan, Elaine, Abel, Francoi, De Lucia, Silvana, Hogrel, Jean‐yve, Niks, Erik H., de Groot, Imelda, Servais, Laurent, Straub, Volker, Ricotti, Valeria, Manzur, Adnan, Muntoni, Francesco

مصطلحات موضوعية: Duchenne muscular dystrophy, exon skipping, forced vital capacity, genotype, respiratory function

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34606104; info:eu-repo/semantics/altIdentifier/wos/WOS:000711484700001; volume:65; firstpage:67; lastpage:74; numberofpages:8; journal:MUSCLE & NERVE; https://hdl.handle.net/11567/1155339Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118321421

الإتاحة: https://doi.org/10.1002/mus.27427Test
https://hdl.handle.net/11567/1155339Test

المؤلفون: Georgia Stimpson, Sarah Raquq, Mary Chesshyre, Mary Fewtrell, Deborah Ridout, Anna Sarkozy, Adnan Manzur, Vandana Ayyar Gupta, Ramona De Amicis, Francesco Muntoni, Giovanni Baranello, the NorthStar Network

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Duchenne muscular dystrophy, Growth, Isoforms, Glucocorticoids, Prednisolone, Deflazacort, Medicine, envir, demo

العلاقة: https://doi.org/10.1186/s13023-021-02158-9Test

الإتاحة: https://doi.org/10.1186/s13023-021-02158-9Test

المؤلفون: Giorgia Coratti (3142176), Marika Pane (289244), Claudia Brogna (783545), Valeria Ricotti (621813), Sonia Messina (289253), Adele D’Amico (289256), Claudio Bruno (289284), Gianluca Vita (3177801), Angela Berardinelli (289251), Elena Mazzone (3777181), Francesca Magri (289272), Federica Ricci (3210738), Tiziana Mongini (289278), Roberta Battini (289280), Luca Bello (289265), Elena Pegoraro (289281), Giovanni Baranello (507019), Stefano C. Previtali (11027655), Luisa Politano (289286), Giacomo P. Comi (11027658), Valeria A. Sansone (6876743), Alice Donati (6876746), Jean Yves Hogrel (11027661), Volker Straub (251869), Silvana De Lucia (9951812), Erik Niks (11027664), Laurent Servais (281540), Imelda De Groot (11027667), Mary Chesshyre (11027670), Enrico Bertini (156405), Nathalie Goemans (503769), Francesco Muntoni (228210), Eugenio Mercuri (289290)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Evolutionary Biology, Developmental Biology, Marine Biology, Cancer, Science Policy, Mental Health, Infectious Diseases, exon 51, Discussion Mutations, baseline values, report 36- month, 53. Materials, North Star Ambulatory Assessment, NSAA, ambulant patients, exons 53, exon 52. Results, North Star Ambulatory Assessment ch., 36 months, 3 year, 101 patients, ambulant Duchenne boys, subgroups, exon 44

العلاقة: https://figshare.com/articles/figure/Mean_NSAA_changes_in_the_subgroups_amenable_to_skip_exons_44_45_51_and_53_according_to_age_/14848560Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.g001Test