Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Mary Chesshyre"'
Autor:
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
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 2, Pp 1360-1372 (2022)
Abstract Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle and is also expressed in the central nervous system (CNS). Two shor
Externí odkaz:
https://doaj.org/article/f0e9fb8a39b84e67b80fc0751fc0cab9
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Objectives The objective of this study is to analyse retrospective, observational, longitudinal growth (weight, height and BMI) data in ambulatory boys aged 5–12 years with Duchenne muscular dystrophy (DMD). Background We considered glucoc
Externí odkaz:
https://doaj.org/article/9839128fa22d4b0f98c61ed228c910e7
Autor:
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
Publikováno v:
PLoS ONE, Vol 18, Iss 4, p e0283669 (2023)
The North Star ambulatory assessment (NSAA) is a functional motor outcome measure in Duchenne muscular dystrophy (DMD), widely used in clinical trials and natural history studies, as well as in clinical practice. However, little has been reported on
Externí odkaz:
https://doaj.org/article/21885a505e0b4afe9114a65409bbe906
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD), two of the most common, child onset, rare neuromuscular disorders, present a case study for the translation of preclinical research into clinical work. Over the past decade, well-de
Externí odkaz:
https://doaj.org/article/3eef4adc91d2442cbee9b941935f8fa9
Autor:
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
Publikováno v:
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)
IntroductionThe aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53.Materials and methods
Externí odkaz:
https://doaj.org/article/be2f7562560244a9a2a56400fc1fd6e8
Autor:
E. Mercuri, A.M. Seferian, L. Servais, N. Deconinck, H. Stevenson, X. Ni, W. Zhang, L. East, S. Yonren, F. Muntoni, Nicolas Deconinck, Rudy Van Coster, Arnaud Vanlander, Andreea Seferian, Silvana De Lucia, Teresa Gidaro, Laura Vanden Brande, Laurent Servais, Janbernd Kirschner, Sabine Borell, Eugenio Mercuri, Claudia Brogna, Marika Pane, Lavinia Fanelli, Giulia Norcia, Francesco Muntoni, Chiara Brusa, Mary Chesshyre, Kate Maresh, Jaqueline Pitchforth, Lucia Schottlaender, Mariacristina Scoto, Arpana Silwal, Fedrica Trucco
Publikováno v:
Neuromuscular Disorders. 33:476-483
Autor:
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
BackgroundDuchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full length Dp427 is the primary dystrophin isoform expressed in skeletal muscle and is also expressed in the central nervous system (CNS). Two shorter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d68df556d4c4d29335f762e13be0a33
https://doi.org/10.1101/2021.07.27.21261120
https://doi.org/10.1101/2021.07.27.21261120
Autor:
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
Publikováno v:
PLoS ONE, 16(6). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)
Introduction The aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. Materials and metho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7208ef0a5c3984e1eb8d2853199ed7
http://hdl.handle.net/1887/3249481
http://hdl.handle.net/1887/3249481
Autor:
Amy Wolfe, Mariacristina Scoto, Mary Chesshyre, Lianne Abbott, Vandana Ayyar Guptar, Stephanie Wadsworth, Adnan Y. Manzur, Victoria Selby, Giovanni Baranello, Francesco Muntoni, Marion Main
Publikováno v:
Digital poster presentations.
On average children with hypermobility achieve motor milestones later than peers without. This study looked at the prevalence of hypermobility in a sample of Duchenne Muscular Dystrophy (DMD) and aimed to determine if hypermobility has an impact on w