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, iMDEX Consortium and the U.K. NorthStar Clinical Network

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

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/21885a505e0b4afe9114a65409bbe906Test

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

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/9839128fa22d4b0f98c61ed228c910e7Test

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, on behalf on the International DMD Group and the iMDEX Consortium

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

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/be2f7562560244a9a2a56400fc1fd6e8Test

المؤلفون: Yasumasa Hashimoto, Marion Main, Yoshitsugu Aoki, Deborah Ridout, Mariacristina Scoto, Francesco Muntoni, K. Maresh, Silvia Torelli, Giovanni Baranello, Valeria Ricotti, Adnan Y. Manzur, Yoko Ookubo, Lianne Abbott, Vandana Ayyar Gupta, Mary Chesshyre

مصطلحات موضوعية: Gene isoform, medicine.medical_specialty, biology, business.industry, Duchenne muscular dystrophy, Central nervous system, Skeletal muscle, medicine.disease, Phenotype, Grip strength, Endocrinology, medicine.anatomical_structure, Internal medicine, biology.protein, Medicine, Muscular dystrophy, business, Dystrophin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7d68df556d4c4d29335f762e13be0a33Test
https://doi.org/10.1101/2021.07.27.21261120Test

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

المصدر: PLoS ONE, 16(6). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)

مصطلحات موضوعية: Male, Heredity, Genetic Linkage, Epidemiology, Physiology, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, Severity of Illness Index, Muscular Dystrophies, Dystrophin, Exon, 0302 clinical medicine, Medical Conditions, Medicine and Health Sciences, 030212 general & internal medicine, Muscular Dystrophy, Longitudinal Studies, Child, Baseline values, Multidisciplinary, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Organic Compounds, Men, Exons, Multidisciplinary Sciences, Chemistry, Deletion Mutation, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Medicine, Science & Technology - Other Topics, Steroids, exon skipping, Research Article, medicine.medical_specialty, Science, Natural history of disease, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Genetics, Humans, Clinical Genetics, Science & Technology, business.industry, Biological Locomotion, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Human Genetics, medicine.disease, Duchenne, Human genetics, Exon skipping, Follow-Up Studies, Muscular Dystrophy, Duchenne, Mutation, Clinical trial, Natural History of Disease, Medical Risk Factors, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Electronic-eCollection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7208ef0a5c3984e1eb8d2853199ed7Test
http://hdl.handle.net/1887/3249481Test

المؤلفون: Amy Wolfe, Mariacristina Scoto, Mary Chesshyre, Lianne Abbott, Vandana Ayyar Guptar, Stephanie Wadsworth, Adnan Y. Manzur, Victoria Selby, Giovanni Baranello, Francesco Muntoni, Marion Main

المصدر: Digital poster presentations.

مصطلحات موضوعية: musculoskeletal diseases, education.field_of_study, medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, Population, Functional skills, Retrospective cohort study, medicine.disease, Ambulatory, Physical therapy, Medicine, education, business, Hypermobility (travel)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7a6aac726e751a9670ea7b2963a816efTest
https://doi.org/10.1136/archdischild-2020-gosh.74Test

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

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/dataset/Details_of_the_NSAA_in_the_study_cohort_subdivided_by_TRF_at_baseline_6_or_6_years_/14848572Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.t002Test

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/dataset/Details_of_the_NSAA_in_the_study_cohort_and_subdivided_by_age_at_baseline_7_or_7_years_/14848569Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.t001Test

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/Individual_NSAA_trajectories_with_details_of_the_mutations_within_skipping_subgroups_/14848566Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.g002Test