Effect of sirolimus on muscle in inclusion body myositis observed with magnetic resonance imaging and spectroscopy

Autor: Harmen Reyngoudt, Pierre‐Yves Baudin, Ericky Caldas de Almeida Araújo, Damien Bachasson, Jean‐Marc Boisserie, Kubéraka Mariampillai, Mélanie Annoussamy, Yves Allenbach, Jean‐Yves Hogrel, Pierre G. Carlier, Benjamin Marty, Olivier Benveniste

Publikováno v: Journal of Cachexia, Sarcopenia and Muscle, Vol 15, Iss 3, Pp 1108-1120 (2024)

Abstract Background Finding sensitive clinical outcome measures has become crucial in natural history studies and therapeutic trials of neuromuscular disorders. Here, we focus on 1‐year longitudinal data from quantitative magnetic resonance imaging

Externí odkaz: https://doaj.org/article/0ff63e8cc1324c1da8a712afd1ed760d

Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy.

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

The benefits and tolerance of exercise in myasthenia gravis (MGEX): study protocol for a randomised controlled trial

Autor: Simone Birnbaum, Jean-Yves Hogrel, Raphael Porcher, Pierre Portero, Bernard Clair, Bruno Eymard, Sophie Demeret, Guillaume Bassez, Marcela Gargiulo, Estelle Louët, Sonia Berrih-Aknin, Asmaa Jobic, Philippe Aegerter, Philippe Thoumie, Tarek Sharshar, the MGEX Study Group

Publikováno v: Trials, Vol 19, Iss 1, Pp 1-13 (2018)

Abstract Background Research exploring the effects of physical exercise in auto-immune myasthenia gravis (MG) is scarce. The few existing studies present methodological shortcomings limiting the conclusions and generalisability of results. It is hypo

Externí odkaz: https://doaj.org/article/72ce5df73f364d1da14f4ae03c37bb1c

Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study

Autor: Rabab Debs, Jean-Yves Hogrel, Gaëlle Bruneteau, Nadine Le Forestier, Peter Bede, Pascal Laforêt, Sophie Blancho, Anthony Behin, Timothée Lenglet, Véronique Marchand-Pauvert, François Salachas, Giorgia Querin, Pierre-François Pradat, Tanya Stojkovic, Maria del Mar Amador

Publikováno v: Journal of Neurology
Journal of Neurology, Springer Verlag, 2021, 268 (5), pp.1792-1802. ⟨10.1007/s00415-020-10332-5⟩
Journal of Neurology, 2021, 268 (5), pp.1792-1802. ⟨10.1007/s00415-020-10332-5⟩

International audience; Objective: The aim of this study was the comprehensive characterisation of longitudinal clinical, electrophysiological and neuroimaging measures in type III and IV adult spinal muscular atrophy (SMA) with a view to propose obj

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c900629d70a5c9ba3b3a7e5f1d3cfed
https://doi.org/10.1007/s00415-020-10332-5

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2?3 trial

Autor: Wolfgang Köhler, Marc Engelen, Florian Eichler, Robin Lachmann, Ali Fatemi, Jacinda Sampson, Ettore Salsano, Josep Gamez, Maria Judit Molnar, Sílvia Pascual, Maria Rovira, Anna Vilà, Guillem Pina, Itziar Martín-Ugarte, Adriana Mantilla, Pilar Pizcueta, Laura Rodríguez-Pascau, Estefania Traver, Anna Vilalta, María Pascual, Marc Martinell, Uwe Meya, Fanny Mochel, Eavan Mc Govern, Elise Yazbeck, Magali Barbier, Marie-Pierre Luton, Françoise Pousset, Jean-Yves Hogrel, Isaac Adanyeguh, Florian Then Bergh, Caroline Bergner, Astrid Unterlauft, Hannes Roicke, Karl-Titus Hoffmann, Cordula Scherlach, Andrea Kalb, Bianca Meilick, Mandy Reuschel, Silvia Fenu, Elena Mauro, Elaine Murphy, Gauri Krishna, Tiggy Beyene, Alba Sierra, Sara Quiñoa, Anna Belen Canovas, Zoltan Grosz, Báthori Györgyi, S.I. van de Stadt, I.C. Huffnagel, W.J.C. van Ballegoij, M.M.C. Voermans, Reza Seyedsadjadi, Camille Corre, Neha Godbole, Natalie Rose Grant, Claudia Maria Brito Pires, Melissa Trovato, Nancy Yeh, Jordan Goodman, Jennifer Keller, Chris Joseph, Keith Van Haren, Sarada Sakamuri, Tina Duong, Lila Perrone, Stephanie Tran, Sally Dunaway Young, Syed Hashmi

Publikováno v: The Lancet Neurology, 22(2), 127-136. Lancet Publishing Group

Background: Adult patients with adrenoleukodystrophy have a poor prognosis owing to development of adrenomyeloneuropathy. Additionally, a large proportion of patients with adrenomyeloneuropathy develop life-threatening progressive cerebral adrenoleuk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb8695c85f230bdb0e4f78481480d58
https://pure.amc.nl/en/publications/safety-and-efficacy-of-leriglitazone-for-preventing-disease-progression-in-men-with-adrenomyeloneuropathy-advance(6d25a248-5b0d-4f76-b918-9f438ca0dcf9).html