Zobrazeno 1 - 10
of 270
pro vyhledávání: '"Michela, Guglieri"'
Autor:
Patricia Piñol-Jurado, José Verdú-Díaz, Esther Fernández-Simón, Cristina Domínguez-González, Aurelio Hernández-Lain, Conor Lawless, Amy Vincent, Alejandro González-Chamorro, Elisa Villalobos, Alexandra Monceau, Zoe Laidler, Priyanka Mehra, James Clark, Andrew Filby, David McDonald, Paul Rushton, Andrew Bowey, Jorge Alonso Pérez, Giorgio Tasca, Chiara Marini-Bettolo, Michela Guglieri, Volker Straub, Xavier Suárez-Calvet, Jordi Díaz-Manera
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Becker muscular dystrophy (BMD) is characterised by fiber loss and expansion of fibrotic and adipose tissue. Several cells interact locally in what is known as the degenerative niche. We analysed muscle biopsies of controls and BMD patients
Externí odkaz:
https://doaj.org/article/61a0d77c3dfe43de98fb8cb832575a27
Association between neurodevelopmental impairments and motor function in Duchenne muscular dystrophy
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 12, Pp 2285-2296 (2023)
Abstract Objective We explored various prognostic factors of motor outcomes in corticosteroid‐naive boys with Duchenne Muscular Dystrophy (DMD). Methods The associations between parent‐reported neurodevelopmental concerns (speech delay, speech an
Externí odkaz:
https://doaj.org/article/79829bd13c7b40b88426668627dcff0f
Autor:
Claire L Wood, Kieren G Hollingsworth, Edrina Bokaie, Eric Hughes, Robert Muni-Lofra, Anna Mayhew, Rod T Mitchell, Michela Guglieri, Joseph McElvaney, Timothy D Cheetham, Volker Straub
Publikováno v:
Endocrine Connections, Vol 12, Iss 12, Pp 1-12 (2023)
Glucocorticoids (GCs) reduce inflammation and preserve muscle function in boys with Duchenne muscular dystrophy (DMD) but cause pubertal delay. Pubertal induction with testosterone is recommended but longer-term outcome is unknown. Objective: To asse
Externí odkaz:
https://doaj.org/article/db405beaad49493dbc40bf202b1d89db
Autor:
Xavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera, Cristina Jou, Patricia Pinol-Jurado, Elisa Villalobos, Carlos Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, José Verdu-Díaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso-Perez, Chiara Marini-Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, Andrés Nascimento, Jordi Diaz-Manera
Publikováno v:
Cell Death and Disease, Vol 14, Iss 9, Pp 1-15 (2023)
Abstract Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of
Externí odkaz:
https://doaj.org/article/63d64f9d3e584ca18f038365d5b380e0
Autor:
Jonathan Broomfield, Keith Abrams, Nick Latimer, Michela Guglieri, Mark Rutherford, Michael Crowther
Publikováno v:
Brain and Behavior, Vol 13, Iss 12, Pp n/a-n/a (2023)
Abstract Background Duchenne muscular dystrophy (DMD) is a rare, muscle‐degenerative disease predominantly affecting males. Natural history models capture the full disease pathway under current care and combine with estimates of new interventions
Externí odkaz:
https://doaj.org/article/af8c1ccc94e14c8383f076690e267936
Autor:
Sarah P. Sherlock, Jeffrey Palmer, Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Cuixia Tian, Jean K. Mah, Francesco Muntoni, Michela Guglieri, Russell J. Butterfield, Lawrence Charnas, Shannon Marraffino
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract We evaluated whether whole-body dual-energy X-ray absorptiometry (DXA) measures of lean body mass can be used as biomarkers for disease progression and treatment effects in patients with Duchenne muscular dystrophy. This post hoc analysis ut
Externí odkaz:
https://doaj.org/article/b1991b15576f4babafe571cf86344cff
Autor:
Ros Quinlivan, Michela Guglieri, Ashish Chikermane, Adrian Morley-Davies, Konstantinos Savvatis, Zaheer Yousef, John Bourke, William Bradlow, Matthew Fenton, Caroline Coats, Maria Ilina, Marianela Schiava, Cathy Turner, Alexandra Johnson, Stam Kapetanakis, Lisa Kuhwald
Publikováno v:
Open Heart, Vol 9, Iss 2 (2022)
Objective We provide succinct, evidence-based and/or consensus-based best practice guidance for the cardiac care of children living with Duchenne muscular dystrophy (DMD) as well as recommendations for screening and management of female carriers of m
Externí odkaz:
https://doaj.org/article/45cca066188d4f10a7b8685d5cba82de
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/248c0defe3fc427590a3c04694046ce1
Autor:
Dominic Scaglioni, Francesco Catapano, Matthew Ellis, Silvia Torelli, Darren Chambers, Lucy Feng, Matthew Beck, Caroline Sewry, Mauro Monforte, Shawn Harriman, Erica Koenig, Jyoti Malhotra, Linda Popplewell, Michela Guglieri, Volker Straub, Eugenio Mercuri, Laurent Servais, Rahul Phadke, Jennifer Morgan, Francesco Muntoni
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-17 (2021)
Abstract During the last decade, multiple clinical trials for Duchenne muscular dystrophy (DMD) have focused on the induction of dystrophin expression using different strategies. Many of these trials have reported a clear increase in dystrophin prote
Externí odkaz:
https://doaj.org/article/0bb99a8919a34521a7b32c5a0a245087
Autor:
Anna G. Mayhew, Meredith K. James, Ursula Moore, Helen Sutherland, Marni Jacobs, Jia Feng, Linda Pax Lowes, Lindsay N. Alfano, Robert Muni Lofra, Laura E. Rufibach, Kristy Rose, Tina Duong, Luca Bello, Irene Pedrosa-Hernández, Scott Holsten, Chikako Sakamoto, Aurélie Canal, Nieves Sánchez-Aguilera Práxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Heather Gordish-Dressman, Heather Hilsden, Michela Guglieri, Jean-Yves Hogrel, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Díaz-Manera, Elena Pegoraro, Jerry R. Mendell, Volker Straub
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the
Externí odkaz:
https://doaj.org/article/0470816544d14c339d5608df7267ca17