Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Carole, Vuillerot"'
Autor:
Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, Pascal Cintas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved child
Externí odkaz:
https://doaj.org/article/b995c184e3d74c469752208af81f61fa
Autor:
Elisabeth Wallach, Virginie Ehlinger, Maelle Biotteau, Ulrike Walther-Louvier, Yann Péréon, Carole Vuillerot, Stephanie Fontaine, Pascal Sabouraud, Caroline Espil-Taris, Jean-Marie Cuisset, Vincent Laugel, Eloïse Baudou, Catherine Arnaud, Claude Cances
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-11 (2023)
Abstract Duchenne Muscular Dystrophy (DMD) is a neuromuscular disease that inevitably leads to total loss of autonomy. The new therapeutic strategies aim to both improve survival and optimise quality of life. Evaluating quality of life is nevertheles
Externí odkaz:
https://doaj.org/article/44fdffd28e7a45b7b6fbd98449324d4f
Autor:
Tina Duong, Jessica Braid, Hannah Staunton, Aurelie Barriere, Fani Petridis, Johannes Reithinger, Rosangel Cruz, Jill Jarecki, Mencia De Lemus, Nicole Gusset, Ria Broekgaarden, Sharan Randhawa, Jessica Flynn, Rob Arbuckle, Sonia Reif, Lida Yang, Angela De Martini, Carole Vuillerot
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-4 (2021)
Externí odkaz:
https://doaj.org/article/3e7969a63e0b479d964476d929ecea58
Autor:
Tina Duong, Jessica Braid, Hannah Staunton, Aurelie Barriere, Fani Petridis, Johannes Reithinger, Rosangel Cruz, Jill Jarecki, Mencia De Lemus, Nicole Gusset, Ria Broekgaarden, Sharan Randhawa, Jessica Flynn, Rob Arbuckle, Sonia Reif, Lida Yang, Angela De Martini, Carole Vuillerot
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)
Abstract Background The 32-item Motor Function Measure (MFM32) is a clinician-reported outcome measure used to assess the functional abilities of individuals with neuromuscular diseases, including those with spinal muscular atrophy (SMA). This two-pa
Externí odkaz:
https://doaj.org/article/40a4d4e72db647e4b617a358a6c10774
Autor:
Mélanie Annoussamy, Andreea M. Seferian, Aurore Daron, Yann Péréon, Claude Cances, Carole Vuillerot, Liesbeth De Waele, Vincent Laugel, Ulrike Schara, Teresa Gidaro, Charlotte Lilien, Jean‐Yves Hogrel, Pierre Carlier, Emmanuel Fournier, Linda Lowes, Ksenija Gorni, Myriam Ly‐Le Moal, Nicole Hellbach, Timothy Seabrook, Christian Czech, Ricardo Hermosilla, Laurent Servais, the NatHis‐SMA study group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 359-373 (2021)
Abstract Objective To characterize the natural history of spinal muscular atrophy (SMA) over 24 months using innovative measures such as wearable devices, and to provide evidence for the sensitivity of these measures to determine their suitability as
Externí odkaz:
https://doaj.org/article/5662815653b845ccaffc6ca741781c22
Autor:
Dylan Trundell, Stephanie Le Scouiller, Ksenija Gorni, Timothy Seabrook, Carole Vuillerot, the SMA MFM Study Group
Publikováno v:
Neurology and Therapy, Vol 9, Iss 2, Pp 575-584 (2020)
Abstract Introduction To investigate the validity and reliability of the 32-item Motor Function Measure (MFM32) in individuals with neuromuscular disorders (NMD), including spinal muscular atrophy (SMA), aged 2–5 years, and in non-ambulant individu
Externí odkaz:
https://doaj.org/article/b5cbb37514f249639c8a2d0cbad8caa1
Autor:
Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, Pierre Beze-Beyrie, Vanessa Pauly, Susana Quijano-Roy, Brigitte Chabrol, Isabelle Desguerre
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017.
Externí odkaz:
https://doaj.org/article/318647e3ed8f4622944ee433cb371756
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
Autor:
Catherine Koch, Suzie Buono, Alexia Menuet, Anne Robé, Sarah Djeddi, Christine Kretz, Raquel Gomez-Oca, Marion Depla, Arnaud Monseur, Leen Thielemans, Laurent Servais, Jocelyn Laporte, Belinda S. Cowling, Mélanie Annoussamy, Andreea Seferian, Jonathan Baets, Nicole Voermans, Antony Behin, U. Schara, Adele D’Amico, Arturo Hernandez, Capucine de Lattre, Jean-Michel Arnal, Michèle Mayer, Jean-Marie Cuisset, Carole Vuillerot, Stéphanie Fontaine, Rémy Bellance
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1178-1189 (2020)
Myotubular myopathy, also called X-linked centronuclear myopathy (XL-CNM), is a severe congenital disease targeted for therapeutic trials. To date, biomarkers to monitor disease progression and therapy efficacy are lacking. The Mtm1−/y mouse is a f
Externí odkaz:
https://doaj.org/article/a9485f849aa14c759c9733815ca3f66a
Autor:
Tina Duong, Hannah Staunton, Jessica Braid, Aurelie Barriere, Ben Trzaskoma, Ling Gao, Tom Willgoss, Rosangel Cruz, Nicole Gusset, Ksenija Gorni, Sharan Randhawa, Lida Yang, Carole Vuillerot
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
The 32-item Motor Function Measure (MFM32) is an assessment of motor function used to evaluate fine and gross motor ability in patients with neuromuscular disorders, including spinal muscular atrophy (SMA). Reliability and validity of the MFM32 have
Externí odkaz:
https://doaj.org/article/bfda0d067a5e46119881b84dee5d1662
Autor:
Shams Ribault, Pascal Rippert, Minal Jain, Laure Le Goff, Dominique Vincent Genod, Aurélie Barriere, Anne Berruyer, Camille Garde, Marie Tinat, Christelle Pons, Carole Vuillerot
Publikováno v:
Journal of Neuromuscular Diseases. 10:301-314
Background: Recent pharmaceutical breakthroughs in neuromuscular diseases may considerably change the prognosis and natural history these diseases. The ability to measure clinically relevant outcomes such as motor function is critical for the assessm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::66730aba753feacc8bc30cf9110fa4fc
https://doi.org/10.3233/jnd-230001
https://doi.org/10.3233/jnd-230001