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of 94
pro vyhledávání: '"M. Annoussamy"'
Akademický článek
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Autor:
M. Annoussamy, Laurent Servais, Dirk Schmitt, Ulrike Schara-Schmidt, Andreas Roos, Frederik Braun, Andrea Gangfuss
Publikováno v:
Journal of Neuromuscular Diseases
X-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease, which is caused by pathogenic variants in the MTM1 gene. It has a large phenotypic heterogeneity, ranging from patients, who are able to walk independently to immo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::064623908e1effa37e01359b733d53a3
https://doi.org/10.3233/jnd-200539
https://doi.org/10.3233/jnd-200539
Autor:
Jean-Yves Hogrel, Myriam Ly-Le Moal, A. Daron, Teresa Gidaro, Timothy Seabrook, Laurent Servais, Carole Vuillerot, Vincent Laugel, Emmanuel Fournier, Pierre G. Carlier, Ulrike Schara, Yann Péréon, Nicole Hellbach, Andreea Mihaela Seferian, Claude Cances, Ksenija Gorni, M. Annoussamy, Linda Lowes, C. Lilien, Ricardo Hermosilla, Christian Czech, Liesbeth De Waele
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 2021, 8 (2), pp.359-373. ⟨10.1002/acn3.51281⟩
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 359-373 (2021)
Annals of Clinical and Translational Neurology, Wiley, 2021, 8 (2), pp.359-373. ⟨10.1002/acn3.51281⟩
Annals of Clinical and Translational Neurology, 2021, 8 (2), pp.359-373. ⟨10.1002/acn3.51281⟩
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 359-373 (2021)
Annals of Clinical and Translational Neurology, Wiley, 2021, 8 (2), pp.359-373. ⟨10.1002/acn3.51281⟩
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 endpoin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b05a8b9907c355ce4ae932b73230e98b
http://europepmc.org/articles/PMC7886049
http://europepmc.org/articles/PMC7886049
Autor:
Erwan Gasnier, David Vissiere, Laurent Servais, Tahseen Mozaffar, Gennyne Walker, Kathryn R. Wagner, John Vissing, Teresa Gidaro, M. Annoussamy, Sanjay S. Shukla, Stanley Iyadurai, Shahram Attarian
Publikováno v:
MusclenerveREFERENCES. 65(2)
INTRODUCTION/AIMS Limb girdle muscular dystrophy type 2B (LGMDR2) and facioscapulohumeral muscular dystrophy (FSHD) are genetic muscular dystrophies with an increasing number of potential therapeutic approaches. The aim of this study is to report the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c297deefa536deb7b918d726a638be89
https://pubmed.ncbi.nlm.nih.gov/34687225
https://pubmed.ncbi.nlm.nih.gov/34687225
Autor:
M. Poleur, M. Annoussamy, L. Clavel, L. Buscemi, S. Delstanche, D. Eggenspieler, A. Maertens de Noordhout, O. Bouquiaux, I. Lievens, L. Servais
Publikováno v:
Neuromuscular Disorders. 32:S136
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::278c6af320567de76d6fa38cd8d701a1
https://doi.org/10.1016/j.nmd.2022.07.390
https://doi.org/10.1016/j.nmd.2022.07.390
Autor:
C. Lilien, A. Tricot, M. Annoussamy, M. Polleur, L. Clavel, T. Terray, A. Guérin, D. Eggenspieler, D. Lozeve, L. Servais
Publikováno v:
Neuromuscular Disorders. 32:S61
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f36c21dadfa864b300984eec6c3f00e
https://doi.org/10.1016/j.nmd.2022.07.082
https://doi.org/10.1016/j.nmd.2022.07.082
Autor:
M. Annoussamy, D. Eggenspieler, A. Seferian, E. Mercuri, V. Straub, F. Muntoni, M. Scoto, M. Poleur, A. Daron, N. Butoianu, A. Mirea, N. Goemans, S. Previtali, M. Tulinius, A. Nascimento, P. Heydemann, M. Panzara, T. Singh, P. Strijbos, L. Servais
Publikováno v:
Neuromuscular Disorders. 32:S65
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82ddc7c34acad6ebaa5755cf0e0d71bb
https://doi.org/10.1016/j.nmd.2022.07.099
https://doi.org/10.1016/j.nmd.2022.07.099
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Ana Ulinici, Damien Eggenspieler, Fabian Dal Farra, Margaux Poleur, Olivier Schneider, M. Annoussamy, Marie Demonceau, Laurent Servais, David Vissiere, A. Daron
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Background Normative data are necessary for validation of new outcome measures. Recently, the 95th centile of stride speed was qualified by the European Medicines Agency as a valid secondary outcome for clinical trials in subjects with Duchenne muscu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c1075d4033e08dcd78145b84760563f
http://europepmc.org/articles/PMC8287788
http://europepmc.org/articles/PMC8287788
Autor:
Harmen Reyngoudt, Anthony Behin, Ericky C. A. Araujo, Benjamin Marty, Ferial Toumi, M. Annoussamy, Jean-Yves Hogrel, Melanie Villeret, Laurent Servais, Teresa Gidaro, P. Baudin, Julien Le Louër, Pierre G. Carlier
Publikováno v:
Journal of Neurology. 267:228-238
BACKGROUND AND OBJECTIVE: To identify the most responsive and sensitive clinical outcome measures in GNE myopathy. METHODS: ClinBio-GNE is a natural history study in GNE myopathy. Patients were assessed prospectively by clinical, functional and quant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b7783f96137fe9e4cc085b938deb847
https://doi.org/10.1007/s00415-019-09569-6
https://doi.org/10.1007/s00415-019-09569-6