Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Valeria, Ricotti"'
Publikováno v:
Skeletal Muscle, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Background Multiple clinical trials to assess the efficacy of AAV-directed gene transfer in participants with Duchenne muscular dystrophy (DMD) are ongoing. The success of these trials currently relies on standard functional outcome measures
Externí odkaz:
https://doaj.org/article/4757d38c542643cbadde796ef0c74dc7
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:
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
Autor:
Ryan S. Paquin, Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, Carl Morris, Colin Rensch, Valeria Ricotti, Leo J. Russo, Alesia Sadosky, Edward C. Smith, Holly L. Peay
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Purpose Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. Here, caregivers and pat
Externí odkaz:
https://doaj.org/article/9a341e5765cf4d0c818fe5d13af95442
Autor:
Holly L. Peay, Ryan Fischer, Brennan Mange, Ryan S. Paquin, Edward C. Smith, Alesia Sadosky, Leo Russo, Valeria Ricotti, Colin Rensch, Carl Morris, Amy Strong Martin, Annie Ganot, Katherine Beaverson, Carol Mansfield
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Abstract Background Gene therapy offers an etiologically targeted treatment for genetic disorders. Little is known about the acceptance of mortality risk among patients with progressive, fatal conditions. We assessed patients’ and caregivers’ max
Externí odkaz:
https://doaj.org/article/52d96db984d645b4b1d2e956eedbd260
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:
Balasundaram Kadirvelu, Constantinos Gavriel, Sathiji Nageshwaran, Jackson Ping Kei Chan, Suran Nethisinghe, Stavros Athanasopoulos, Valeria Ricotti, Thomas Voit, Paola Giunti, Richard Festenstein, A. Aldo Faisal
Publikováno v:
Nature Medicine. 29:86-94
Friedreichʼs ataxia (FA) is caused by a variant of the Frataxin (FXN) gene, leading to its downregulation and progressively impaired cardiac and neurological function. Current gold-standard clinical scales use simplistic behavioral assessments, whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e562ed2af7eb9419594fbc66bea01eda
https://doi.org/10.1038/s41591-022-02159-6
https://doi.org/10.1038/s41591-022-02159-6
Autor:
Nienke M. van de Velde, Zaïda Koeks, Mirko Signorelli, Nisha Verwey, Maurice Overzier, Jaap A. Bakker, Gautam Sajeev, James Signorovitch, Valeria Ricotti, Jan Verschuuren, Kristy Brown, Pietro Spitali, Erik H. Niks
Publikováno v:
Neurology, 100(9), E975-E984. LIPPINCOTT WILLIAMS & WILKINS
Neurology
Neurology
Background and ObjectivesThe slow and variable disease progression of Becker muscular dystrophy (BMD) urges the development of biomarkers to facilitate clinical trials. We explored changes in 3 muscle-enriched biomarkers in serum of patients with BMD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a57db93bedb6271d9c761dcf773bd2
https://hdl.handle.net/1887/3590525
https://hdl.handle.net/1887/3590525
Autor:
Claudia Brogna, Giorgia Coratti, Marika Pane, 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, Enrico Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri, on behalf on the International DMD group
Publikováno v:
PLoS ONE, Vol 14, Iss 6, p e0218683 (2019)
IntroductionThe aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53.Materials and methodsOf the
Externí odkaz:
https://doaj.org/article/3932d113fabe49fdac298f216fdc150a
Autor:
Holly Landrum Peay, Ryan Fischer, Janice P Tzeng, Sharon E Hesterlee, Carl Morris, Amy Strong Martin, Colin Rensch, Edward Smith, Valeria Ricotti, Katherine Beaverson, Hannah Wand, Carol Mansfield
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0213649 (2019)
ObjectivesDuchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that causes progressive weakness and early death. Gene therapy is an area of new therapeutic development. This qualitative study explored factors influencing parents' and ad
Externí odkaz:
https://doaj.org/article/dc50ddcfc3d940448acd1b9d4749a014