Zobrazeno 1 - 10
of 10
pro vyhledávání: '"A. M. Seferian"'
Autor:
Laurent Servais, Paul Strijbos, Margaux Poleur, Andrada Mirea, Nina Butoianu, Valeria A. Sansone, Carole Vuillerot, Ulrike Schara-Schmidt, Mariacristina Scoto, Andreea M. Seferian, Stefano C. Previtali, Már Tulinius, Andrés Nascimento, Pat Furlong, Teji Singh, Roxana Donisa Dreghici, Nathalie Goemans, Eugenio Mercuri, Volker Straub, Maitea Guridi Ormazabal, Jessica Braid, Francesco Muntoni, Alexis Tricot, Mélanie Annoussamy, Damien Eggenspieler
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Stride velocity 95th centile (SV95C) is a wearable-derived endpoint representing the 5% fastest strides taken during everyday living. In July 2023, SV95C received European Medicines Agency (EMA) qualification for use as a primary endpoint in
Externí odkaz:
https://doaj.org/article/2f2f5f8732804df2aa06b3b35f7bb95e
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:
Eve Fouarge, Arnaud Monseur, Bruno Boulanger, Mélanie Annoussamy, Andreea M. Seferian, Silvana De Lucia, Charlotte Lilien, Leen Thielemans, Khazal Paradis, Belinda S. Cowling, Chris Freitag, Bradley P. Carlin, Laurent Servais, the NatHis-MTM Study Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background Centronuclear myopathies are severe rare congenital diseases. The clinical variability and genetic heterogeneity of these myopathies result in major challenges in clinical trial design. Alternative strategies to large placebo-cont
Externí odkaz:
https://doaj.org/article/a0d4e425dd7946bea62e0212923708d2
Autor:
Karen Anthony, Pierpaolo Ala, Francesco Catapano, Jinhong Meng, Joana Domingos, Mark Perry, Valeria Ricotti, Kate Maresh, Lauren C. Phillips, Laurent Servais, Andreea M. Seferian, Silvana De Lucia, Imelda de Groot, Yvonne D. Krom, J.G.M. Verschuuren, Erik H. Niks, Volker Straub, Michela Guglieri, Thomas Voit, Jennifer Morgan, Francesco Muntoni
Publikováno v:
Human Gene Therapy, 34, 439-448
Human Gene Therapy, 34, 9-10, pp. 439-448
Human Gene Therapy, 34, 9-10, pp. 439-448
Item does not contain fulltext Duchenne muscular dystrophy (DMD) is caused by the lack of dystrophin, but many patients have rare revertant fibers that express dystrophin. The skeletal muscle pathology of DMD patients includes immune cell infiltratio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49514bd8301473406d57fff0a578efbe
https://doi.org/10.1089/hum.2022.166
https://doi.org/10.1089/hum.2022.166
Autor:
James J, Dowling, Wolfgang, Müller-Felber, Barbara K, Smith, Carsten G, Bönnemann, Nancy L, Kuntz, Francesco, Muntoni, Laurent, Servais, Lindsay N, Alfano, Alan H, Beggs, Deborah A, Bilder, Astrid, Blaschek, Tina, Duong, Robert J, Graham, Minal, Jain, Michael W, Lawlor, Jun, Lee, Julie, Coats, Charlotte, Lilien, Linda P, Lowes, Victoria, MacBean, Sarah, Neuhaus, Mojtaba, Noursalehi, Teresa, Pitts, Caroline, Finlay, Sarah, Christensen, Gerrard, Rafferty, Andreea M, Seferian, Etsuko, Tsuchiya, Emma S, James, Weston, Miller, Bryan, Sepulveda, Maria Candida, Vila, Suyash, Prasad, Salvador, Rico, Perry B, Shieh
Supplementary Material: The supplementary material is available in the electronic version of this article: https://doi.org/10.3233/JND-210871. Copyright © 2022 The authors. Background X-linked myotubular myopathy (XLMTM) is a life-threatening congen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79d19b66f308abf8cb99baa6a14e7388
https://bura.brunel.ac.uk/handle/2438/24793
https://bura.brunel.ac.uk/handle/2438/24793
Autor:
Tamara Dangouloff, Mickael Hiligsmann, Nicolas Deconinck, Adèle D'Amico, Andreea M. Seferian, François Boemer, Laurent Servais
Publikováno v:
Developmental Medicine and Child Neurology, 65(1), 67-77. Wiley
To compare the societal financial costs and quality of life (QoL) of untreated patients with spinal muscular atrophy (SMA) and treated patients identified because they presented symptoms or were identified by early testing (sibling or newborn screeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::884887e2fa93d7d41cd0592fa32158f2
https://pubmed.ncbi.nlm.nih.gov/35673937
https://pubmed.ncbi.nlm.nih.gov/35673937
Autor:
Joris Menard, Andreea M Seferian, Emmanuelle Fleurence, Audrey Barzic, Alexandra Binoche, Géraldine Labouret, Laurianne Coutier, Carole Vuillerot, Blaise M Bieleu, Marta Gomez Garcia de la Banda, Harriet Corvol, Laurent Servais, Jessica Taytard
Publikováno v:
Pediatric Pulmonology
Pediatric Pulmonology, 2022, 57 (6), pp.1505-1512. ⟨10.1002/ppul.25899⟩
Pediatric Pulmonology, 2022, 57 (6), pp.1505-1512. ⟨10.1002/ppul.25899⟩
International audience; Introduction: The recent development of disease-modifying treatments in spinal muscular atrophy (SMA) type 1 shifted these patients' management from palliative to proactive. The aim of this study was to assess patients' noctur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8edb7850436cb41fa609b331504897e
https://pubmed.ncbi.nlm.nih.gov/35307979
https://pubmed.ncbi.nlm.nih.gov/35307979
Autor:
A. M. Seferian, Laurent Servais, A. Foley, Suyash Prasad, Salvador Rico, D. N. Saade, Astrid Blaschek, Perry B. Shieh, Wolfgang Müller-Felber, James J. Dowling, M. Noursalehi, Nancy L. Kuntz, Michael W. Lawlor, Carsten G. Bönnemann, W. Miller
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd44a8a086bf20b02662687ef2cbef49
https://doi.org/10.1055/s-0041-1739645
https://doi.org/10.1055/s-0041-1739645
Autor:
James J. Dowling, Carsten G. Bönnemann, Perry B. Shieh, Nancy L. Kuntz, Astrid Blaschek, Andreea M Seferian, Wolfgang Müller-Felber
Publikováno v:
Human Gene Therapy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10e94e0653d0700e86a7d5eb38a5134
https://doi.org/10.1089/hum.2020.217
https://doi.org/10.1089/hum.2020.217
Autor:
Laurent Servais, Marie Montus, Caroline Le Guiner, Rabah Ben Yaou, Mélanie Annoussamy, Amélie Moraux, Jean-Yves Hogrel, Andreea M. Seferian, Karima Zehrouni, Anne-Gaëlle Le Moing, Teresa Gidaro, Catherine Vanhulle, Vincent Laugel, Nina Butoianu, Jean-Marie Cuisset, Pascal Sabouraud, Claude Cances, Andrea Klein, France Leturcq, Philippe Moullier, Thomas Voit
Publikováno v:
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2015, 2, pp.269-279. ⟨10.3233/JND-150100⟩
Journal of Neuromuscular Diseases, IOS Press, 2015, 2, pp.269-279. ⟨10.3233/JND-150100⟩
Journal of Neuromuscular Diseases, 2015, 2, pp.269-279. ⟨10.3233/JND-150100⟩
Journal of Neuromuscular Diseases, IOS Press, 2015, 2, pp.269-279. ⟨10.3233/JND-150100⟩
Background: Exon skipping therapy is an emerging approach in Duchenne Muscular Dystrophy (DMD). Antisense oligonucleotides that induce skipping of exon 51, 44, 45, or 53 are currently being evaluated in clinical trials. These trials were designed on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cffcb1d1630b61d957168bc2d50c29a5
https://hal.science/hal-02881020
https://hal.science/hal-02881020