Zobrazeno 1 - 10
of 110
pro vyhledávání: '"Pascal, Cintas"'
Autor:
Vincent Huin, David Blum, Violette Delforge, Emeline Cailliau, Sofia Djeziri, Kathy Dujardin, Alexandre Genet, Romain Viard, Shahram Attarian, Gaelle Bruneteau, Julien Cassereau, Steeve Genestet, Anne-Laure Kaminsky, Marie-Hélène Soriani, Mathilde Lefilliatre, Philippe Couratier, Sophie Pittion-Vouyovitch, Florence Esselin, Elisa De La Cruz, Nathalie Guy, Ivan Kolev, Philippe Corcia, Pascal Cintas, Claude Desnuelle, Luc Buée, Véronique Danel-Brunaud, David Devos, Anne-Sophie Rolland
Publikováno v:
Neurobiology of Disease, Vol 199, Iss , Pp 106603- (2024)
Caffeine consumption outcomes on Amyotrophic Lateral Sclerosis (ALS) including progression, survival and cognition remain poorly defined and may depend on its metabolization influenced by genetic variants. 378 ALS patients with a precise evaluation o
Externí odkaz:
https://doaj.org/article/972ce4d8410148ae8d535f49c2d84219
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:
David Gasq, Raphaël Dumas, Benoit Caussé, Marino Scandella, Pascal Cintas, Blandine Acket, Marie Christine Arné-Bes
Publikováno v:
Journal of NeuroEngineering and Rehabilitation, Vol 20, Iss 1, Pp 1-13 (2023)
Abstract Background Neuromuscular disease and peripheral neuropathy may cause drop foot with or without evertor weakness. We developed a helical-shaped, non-articulated ankle–foot orthosis (AFO) to provide medial–lateral stability while allowing
Externí odkaz:
https://doaj.org/article/b0c4d9e492de4bf4b93787585799cc87
Autor:
Marion Onnée, Audrey Bénézit, Sultan Bastu, Aleksandra Nadaj-Pakleza, Béatrice Lannes, Flavie Ader, Corinne Thèze, Pascal Cintas, Claude Cances, Robert-Yves Carlier, Corinne Metay, Mireille Cossée, Edoardo Malfatti
Publikováno v:
Biomedicines, Vol 12, Iss 2, p 322 (2024)
Filamin C-related disorders include myopathies and cardiomyopathies linked to variants in the FLNC gene. Filamin C belongs to a family of actin-binding proteins involved in sarcomere stability. This study investigates the pathogenic impact of the FLN
Externí odkaz:
https://doaj.org/article/2c608c330d9249089f5423cc46bc3bca
Autor:
Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques, Christophe Béroud, Sabrina Sacconi, The French FSHD registry collaboration group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopatholo
Externí odkaz:
https://doaj.org/article/898889ea615c4715b332595799961f95
Autor:
Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, Shahram Attarian
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19. The objective of this study was to analyze the prevalence of COVID-19 among NMD patie
Externí odkaz:
https://doaj.org/article/1f852d93563d40c5ad7e18eea6212e9c
Autor:
Daniel Dang, Pauline Fournier, Eve Cariou, Antoine Huart, David Ribes, Pascal Cintas, Murielle Roussel, Magali Colombat, Yoan Lavie‐Badie, Didier Carrié, Michel Galinier, Olivier Lairez
Publikováno v:
ESC Heart Failure, Vol 7, Iss 5, Pp 2418-2430 (2020)
Abstract Aims Advances have been made over the last decade in the management of cardiac amyloidosis (CA), but a delayed diagnosis is still common. The aim of this study was to describe the journey to CA diagnosis from initial clinical and to analyse
Externí odkaz:
https://doaj.org/article/0c0dc722f6cb45069a50ef29d886029a
Autor:
Eve Cariou, Kevin Sanchis, Khailène Rguez, Virginie Blanchard, Stephanie Cazalbou, Pauline Fournier, Antoine Huart, Murielle Roussel, Pascal Cintas, Michel Galinier, Didier Carrié, Philippe Maury, Yoan Lavie-Badie, Olivier Lairez
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2021)
Background: Atrial arrhythmia (AA) is common among patients with cardiac amyloidosis (CA), who have an increased risk of intracardiac thrombus. The aim of this study was to explore the prognostic impact of vitamin K-antagonists (VKA) and direct oral
Externí odkaz:
https://doaj.org/article/435fa4c4080545f590084dc89085847d
Autor:
Vincent Fabry, Angélique Gerdelat, Blandine Acket, Pascal Cintas, Vanessa Rousseau, Emmanuelle Uro-Coste, Solène M. Evrard, Anne Pavy-Le Traon
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Introduction: Small fiber neuropathies (SFN) induce pain and/or autonomic symptoms. The diagnosis of SFN poses a challenge because the role of skin biopsy as a reference method and of each neurophysiological test remain to be discussed. This study co
Externí odkaz:
https://doaj.org/article/0e91973a401e4ce3a1d955594200d4b6
Autor:
Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract Background Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the effect of miglust
Externí odkaz:
https://doaj.org/article/78eb2cb04dab43348fe7f8edcd6dfb27