Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Rémi Bellance"'
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:
Anna-Gaelle Valard-Giguet, Jacqueline Véronique-Baudin, Yannis Duffourd, Jocelyn Inamo, Cyril Goizet, Rémi Bellance, Juliette Smith-Ravin
Publikováno v:
Journal of Global Health Reports, Vol 4 (2020)
Neurodegenerative diseases (NDs) are very polymorphic and affect people of all ages. They concern both rare diseases and more common diseases. Improving knowledge of NDs in the French Caribbean region requires special attention because of the unique
Externí odkaz:
https://doaj.org/article/9fb2e700b5644e8ea4d89888cb4a0de0
Autor:
A. Daron, James J. Dowling, Carole Vuillerot, Severine Denis, Bruno Boulanger, Rémi Bellance, Jean-Michel Arnal, Carina Wallgren-Pettersson, Kimberly Amburgey, Etsuko Tsuchiya, A. Hernandez, Jean-Marie Cuisset, Bradley P. Carlin, Enrico Bertini, Andrea Gangfuß, Barbara Andres, Arnaud Monseur, E. Gargaun, Dominique Duchene, Ruxandra Cardas, Virginie Latournerie, Ana Buj-Bello, Ulrike Schara, Basil T. Darras, H. Landy, V. Chê, Chris Freitag, Laurent Servais, S. Fontaine, Adele D'Amico, Jean-Yves Hogrel, Teresa Gidaro, Nacera Reguiba, Andreea Mihaela Seferian, L. Thielemans, Valérie Biancalana, Michèle Mayer, Capucine de Lattre
Publikováno v:
Statistics in Biosciences. 14:237-258
The small sample sizes inherent in rare and pediatric disease settings offer significant challenges for clinical trial design. In such settings, Bayesian adaptive trial methods can often pay dividends, allowing the sensible incorporation of auxiliary
Autor:
Rémi Bellance, Cyril Goizet, Thomas Barnetche, Séverine Jeannin, Cécile Cazeneuve, Pascale Olive, Fabienne Clot, Sophie Duclos, Juliette Smith-Ravin, Anna-Gaelle Giguet-Valard, Oriane Allard-Saint-Albin, Pittion-Vouyovitch Sophie
Publikováno v:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Taylor & Francis, 2021, ⟨10.1080/21678421.2021.1900870⟩
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Taylor & Francis, 2021, ⟨10.1080/21678421.2021.1900870⟩
Amyotrophic Lateral Sclerosis (ALS) is a rare neurological disorder that causes degeneration of upper and lower motor neurons and their axons. ALS is mostly sporadic, but there are familial forms. In more than half of the familial forms, a pathogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3dfc8c3cac803d80dfd54d1847e155
https://hal.archives-ouvertes.fr/hal-03404622
https://hal.archives-ouvertes.fr/hal-03404622
Autor:
Rémi Bellance, Yannis Duffourd, Anna-Gaelle Valard-Giguet, Juliette Smith-Ravin, Jacqueline Veronique-Baudin, Jocelyn Inamo, Cyril Goizet
Publikováno v:
Journal of Global Health Reports. 4
Neurodegenerative diseases (NDs) are very polymorphic and affect people of all ages. They concern both rare diseases and more common diseases. Improving knowledge of NDs in the French Caribbean region requires special attention because of the unique
Autor:
Edoardo Malfatti, Odile Rigal, Andrea Barp, Rémi Bellance, Cécile Acquaviva-Bourdain, Pascal Laforêt
Publikováno v:
JCR: Journal of Clinical Rheumatology. 26:e125-e127
Autor:
Arthur Felix, Frederique Delion, Fabienne Louis-Sidney, Lindsay Osei, Aurélie Armougon, Remi Bellance, Moustapha Dramé, Christophe Deligny, Benoit Suzon, Yves Hatchuel
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-6 (2023)
Abstract Introduction The epidemiology of Juvenile Dermatomyositis (JDM) in non-Caucasian population is poorly described. We performed a study of patients followed up in the French West Indies for JDM. We aimed to describe clinical and biological spe
Externí odkaz:
https://doaj.org/article/50988ef8b36c4e7bb282c9495b3285ba
Autor:
Anna-Gaëlle Giguet-Valard, Astrid Monfort, Hugues Lucron, Helena Mosbah, Franck Boccara, Camille Vatier, Corinne Vigouroux, Pascale Richard, Karim Wahbi, Remi Bellance, Elisabeth Sarrazin, Jocelyn Inamo
Publikováno v:
Cardiogenetics, Vol 13, Iss 4, Pp 135-144 (2023)
The likely pathogenic variant c.407A>T p.Asp136Val of the LMNA gene has been recently described in a young woman presenting with atypical progeroid syndrome, associated with severe aortic valve stenosis. We further describe the cardiovascular involve
Externí odkaz:
https://doaj.org/article/58d5f3827479490cab9fc522f3172001
Autor:
A. Hernandez, Andrea Gangfuß, V. Chê, Adele D'Amico, Rémi Bellance, Laurent Servais, Capucine de Lattre, Basil T. Darras, E. Gargaun, James J. Dowling, Teresa Gidaro, C. Lilien, Ulrike Schara, A. Daron, Ana Buj-Bello, H. Landy, Jean-Marie Cuisset, Carole Vuillerot, Jean-Yves Hogrel, S. Fontaine, Jean-Michel Arnal, Valérie Biancalana, Michèle Mayer, M. Annoussamy
Publikováno v:
Neurology
Neurology, American Academy of Neurology, 2019, 92 (16), pp.e1852-e1867. ⟨10.1212/WNL.0000000000007319⟩
Neurology, 2019, 92 (16), pp.e1852-e1867. ⟨10.1212/WNL.0000000000007319⟩
Neurology, American Academy of Neurology, 2019, 92 (16), pp.e1852-e1867. ⟨10.1212/WNL.0000000000007319⟩
Neurology, 2019, 92 (16), pp.e1852-e1867. ⟨10.1212/WNL.0000000000007319⟩
ObjectivesBecause X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b38c1995ded35a436868282a9704c7
https://hal.archives-ouvertes.fr/hal-02880782
https://hal.archives-ouvertes.fr/hal-02880782
Autor:
Hubert Journel, Sylvie Ragot-Mandry, Delphine Héron, Brigitte Chabrol, S. Peudenier, Jean-Marie Cuisset, Guillaume Bassez, Pascal Sabouraud, Catherine Sarret, Claude Cances, Mélanie Fradin, Agnès Jacquin-Piques, Julie Perrier-Boeswillald, Isabelle Desguerre, Michèle Mayer, Susana Quijano-Roy, Arnaud Isapof, Vincent Laugel, Marie De Antonio, Frédérique Audic, Nathalie Bach, Emmanuelle Lagrue, C. Espil, Rémi Bellance, Catherine Vanhulle, Armelle Magot, Hervé Testard, Julien Durigneux, Yann Péréon, Cécile Laroche-Raynaud, Romain K. Gherardi, Christine Barnerias, Céline Dogan, Véronique Manel, François Rivier, Dalil Hamroun, Ulrike Walther-Louvier, Christian Richelme
Publikováno v:
Neurology
Neurology, American Academy of Neurology, 2019, 92 (8), pp.e852-e865. ⟨10.1212/WNL.0000000000006948⟩
Neurology, 2019, 92 (8), pp.e852-e865. ⟨10.1212/WNL.0000000000006948⟩
Neurology, American Academy of Neurology, 2019, 92 (8), pp.e852-e865. ⟨10.1212/WNL.0000000000006948⟩
Neurology, 2019, 92 (8), pp.e852-e865. ⟨10.1212/WNL.0000000000006948⟩
ObjectiveTo genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management.MethodsAmong the 2,697 patients with genetically confirmed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90f5e2b2022b063379e100eade2c6dc6
https://hal.archives-ouvertes.fr/hal-02097112
https://hal.archives-ouvertes.fr/hal-02097112