Zobrazeno 1 - 10
of 1 281
pro vyhledávání: '"Francesco Muntoni"'
Autor:
Carolynne M. Doherty, Jasper M. Morrow, Riccardo Zuccarino, Paige Howard, Stephen Wastling, Menelaos Pipis, Nick Zafeiropoulos, Katherine J. Stephens, Tiffany Grider, Shawna M. E. Feely, Peggy Nopoulous, Mariola Skorupinska, Evelin Milev, Emma Nicolaisen, Magdalena Dudzeic, Amy McDowell, Nuran Dilek, Francesco Muntoni, Alexander M. Rossor, Sachit Shah, Matilde Laura, Tarek A. Yousry, Daniel Thedens, John Thornton, Michael E. Shy, Mary M. Reilly
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 607-617 (2024)
Abstract Objective With potential therapies for many forms of Charcot‐Marie‐Tooth disease (CMT), responsive outcome measures are urgently needed for clinical trials. Quantitative lower limb MRI demonstrated progressive calf intramuscular fat accu
Externí odkaz:
https://doaj.org/article/b655160e70c64a5fac42d356158f7451
Autor:
Francesco Muntoni, Barry J. Byrne, Hugh J. McMillan, Monique M. Ryan, Brenda L. Wong, Juergen Dukart, Amita Bansal, Valerie Cosson, Roxana Dreghici, Maitea Guridi, Michael Rabbia, Hannah Staunton, Giridhar S. Tirucherai, Karl Yen, Xiling Yuan, Kathryn R. Wagner, the Taldefgrobep Alfa Study Group
Publikováno v:
Neurology and Therapy, Vol 13, Iss 1, Pp 183-219 (2024)
Abstract Introduction Duchenne muscular dystrophy (DMD) is a genetic muscle disorder that manifests during early childhood and is ultimately fatal. Recently approved treatments targeting the genetic cause of DMD are limited to specific subpopulations
Externí odkaz:
https://doaj.org/article/202c472942a04da4895185c648dc27dc
Autor:
Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano‐Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2155-2160 (2023)
Abstract We sought to devise a rational, systematic approach for defining/grouping survival motor neuron‐targeted disease‐modifying treatment (DMT) scenarios. The proposed classification is primarily based on a two‐part differentiation: initial
Externí odkaz:
https://doaj.org/article/ef602e623038483db8127100cc3b1503
Autor:
Francesco Muntoni, James Signorovitch, Gautam Sajeev, Nicolae Done, Zhiwen Yao, Nathalie Goemans, Craig McDonald, Eugenio Mercuri, Erik H Niks, Brenda Wong, Krista Vandenborne, Volker Straub, Imelda J M de Groot, Cuixia Tian, Adnan Manzur, Ibrahima Dieye, Henry Lane, Susan J Ward, Laurent Servais, PRO-DMD-01 study investigators, Association Française contre les Myopathies, UK NorthStar Clinical Network, ImagingDMD investigators, cTAP
Publikováno v:
PLoS ONE, Vol 19, Iss 7, p e0304984 (2024)
Evaluations of treatment efficacy in Duchenne muscular dystrophy (DMD), a rare genetic disease that results in progressive muscle wasting, require an understanding of the 'meaningfulness' of changes in functional measures. We estimated the minimal de
Externí odkaz:
https://doaj.org/article/0cdc19d226b54599940b6eaa426e1e89
Autor:
Maria Sofia Falzarano, Martina Mietto, Fernanda Fortunato, Marianna Farnè, Fernanda Martini, Pierpaolo Ala, Rita Selvatici, Francesco Muntoni, Alessandra Ferlini
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
Abstract To gain insight on dystrophin (DMD) gene transcription dynamics and spatial localization, we assayed the DMD mRNA amount and defined its compartmentalization in myoblasts, myotubes, and skeletal muscle biopsies of Duchenne muscular dystrophy
Externí odkaz:
https://doaj.org/article/fd59f74e0e624464966471010ea7c3fc
Autor:
Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarkozy
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 7, Pp 1219-1229 (2023)
Abstract Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort. Methods Modified Mercuri scoring of lower limb MRI in genetically character
Externí odkaz:
https://doaj.org/article/27f9a36c99974d868cd782ce561793a9
Autor:
Amel Saoudi, Sacha Barberat, Olivier le Coz, Ophélie Vacca, Mathilde Doisy Caquant, Thomas Tensorer, Eric Sliwinski, Luis Garcia, Francesco Muntoni, Cyrille Vaillend, Aurélie Goyenvalle
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 173-188 (2023)
The mdx52 mouse model recapitulates a frequent mutation profile associated with brain involvement in Duchenne muscular dystrophy. Deletion of exon 52 impedes expression of two dystrophins (Dp427, Dp140) expressed in brain, and is eligible for therape
Externí odkaz:
https://doaj.org/article/14cbed576c444c01be01ae87e64766c9
Autor:
Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan Jesus Vilchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt-Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala
Publikováno v:
JCI Insight, Vol 8, Iss 21 (2023)
Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle and important for muscle contraction. However, it is unclear how mutations in these genes disrupt myosin structure and function leading to skeletal muscle myopathies t
Externí odkaz:
https://doaj.org/article/59ff4fd339fd4cbaa9a588a2470f9192
Autor:
Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group
Publikováno v:
Neurology and Therapy, Vol 12, Iss 5, Pp 1799-1801 (2023)
Externí odkaz:
https://doaj.org/article/258bc786e54b4365b79dbe9dd14b5d86
Autor:
Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group
Publikováno v:
Neurology and Therapy, Vol 12, Iss 2, Pp 543-557 (2023)
Abstract Introduction Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokine
Externí odkaz:
https://doaj.org/article/cf9aa173befd4087b4e4bc7cce3e9e84