Zobrazeno 1 - 10
of 13
pro vyhledávání: '"François Lecoq"'
Autor:
François Lecoquierre, Kévin Cassinari, Nathalie Drouot, Angèle May, Steeve Fourneaux, Francoise Charbonnier, Celine Derambure, Sophie Coutant, Pascale Saugier-Veber, Alexander Hoischen, Camille Charbonnier, Gaël Nicolas
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract While de novo variants (DNV) are overall at low risk of recurrence in subsequent pregnancies, a subset is at high risk due to parental mosaicism. Accurately identifying cases of parental mosaicism is therefore important for genetic counselin
Externí odkaz:
https://doaj.org/article/6d5713aaaa4444979daf4c8e8565c653
Autor:
Guy Duperrex, Guido Giardini, Olivier Mesland, François Lecoq, Stéphane Doutreleau, David Le Moal, Hervé Douard, Mathias Poussel, François J. Lhuissier, Philippe Oriol, Bruno Chenuel, Sophie Demanez, Maurice Hayot, Jean-Paul Richalet, Romain Remetter, Samuel Verges, David Debeaumont, Alain Frey, Maryse Dupré, Michel Vergnion, Christophe Hedon, Evelyne Lonsdorfer-Wolf, Daniel Rivière, Fabien Pillard, Jean-Michel Boulet, Louis Vilcoq, Anne Nedelec Jaffuel
Publikováno v:
Medicine and Science in Sports and Exercise
Medicine and Science in Sports and Exercise, American College of Sports Medicine (ACSM), 2021, 53 (6), pp.1294-1302. ⟨10.1249/MSS.0000000000002586⟩
Medicine and Science in Sports and Exercise, 2021, 53 (6), pp.1294-1302. ⟨10.1249/MSS.0000000000002586⟩
Medicine and Science in Sports and Exercise, American College of Sports Medicine (ACSM), 2021, 53 (6), pp.1294-1302. ⟨10.1249/MSS.0000000000002586⟩
Medicine and Science in Sports and Exercise, 2021, 53 (6), pp.1294-1302. ⟨10.1249/MSS.0000000000002586⟩
International audience; Purpose: A decision tree based on a clinico-physiological score (SHAI score) has been developed to detect subjects susceptible to Severe High Altitude Illness (SHAI). We aimed to validate this decision tree, to rationalize the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecb402e1ae005455810f4595fc462b7f
https://pubmed.ncbi.nlm.nih.gov/33433150
https://pubmed.ncbi.nlm.nih.gov/33433150
Autor:
Gaël Nicolas, Myriam Sévigny, François Lecoquierre, Florent Marguet, Andréanne Deschênes, Maria Carment del Pelaez, Sébastien Feuillette, Anaïs Audebrand, Magalie Lecourtois, Stéphane Rousseau, Anne-Claire Richard, Kévin Cassinari, Vincent Deramecourt, Charles Duyckaerts, Anne Boland, Jean-François Deleuze, Vincent Meyer, Jordi Clarimon Echavarria, Ellen Gelpi, Haruhiko Akiyama, Masato Hasegawa, Ito Kawakami, Tsz H. Wong, Jeroen G. J. Van Rooij, John C. Van Swieten, Dominique Campion, Paul A. Dutchak, David Wallon, Flavie Lavoie-Cardinal, Annie Laquerrière, Anne Rovelet-Lecrux, Chantelle F. Sephton
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-18 (2022)
Abstract Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subtype of FTD, frontotemporal lobar
Externí odkaz:
https://doaj.org/article/48e521d609984a38b72e92aa11f8c79b
Autor:
Alice Moisan, Anaïs Soares, Fabienne De Oliveira, Elodie Alessandri-Gradt, François Lecoquierre, Steeve Fourneaux, Jean-Christophe Plantier, Marie Gueudin
Publikováno v:
Viruses, Vol 15, Iss 5, p 1115 (2023)
Since the end of 2020, multiple severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants of concern (VOCs) have emerged and spread worldwide. Tracking their evolution has been a challenge due to the huge number of positive samples and li
Externí odkaz:
https://doaj.org/article/e586d2f302fe410c87e51e76cbd08438
Autor:
Thomas Husson, François Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Richard, Valérie Drouin-Garraud, Anne-Claire Brehin, Maryam Soleimani, Romain Taton, Maud Rotharmel, Antoine Rosier, Pascal Chambon, Nathalie Le Meur, Géraldine Joly-Helas, Pascale Saugier-Veber, Anne Boland, Jean-François Deleuze, Robert Olaso, Thierry Frebourg, Gael Nicolas, Olivier Guillin, Dominique Campion
Publikováno v:
Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
Abstract Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component whose knowledge evolves quickly. Next-generation sequencing is the only effective technology to deal with the high genetic heterogeneity of ASD i
Externí odkaz:
https://doaj.org/article/8b9cf6cb671e43d4a092d47799fdef90
Autor:
Stephen J. Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S. Kilberg
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 1, p 559 (2022)
Asparagine Synthetase Deficiency (ASNSD) is a disease caused by mutations in asparagine synthetase (ASNS). Newborns exhibit microcephaly, intractable epileptic-like seizures, progressive brain atrophy, and axial hypotonia. ASNSD results in global dev
Externí odkaz:
https://doaj.org/article/692279fbaccb45ba8e7304a853ad8a97
Autor:
Jean-François Lecoq
Publikováno v:
Commentaire. :53a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ade4f0818f8c61e11c52a856c9a73836
https://doi.org/10.3917/comm.073.0053
https://doi.org/10.3917/comm.073.0053
Autor:
Pascale Saugier-Veber, Florent Marguet, François Lecoquierre, Homa Adle-Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, Marie Brasseur-Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière
Publikováno v:
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-12 (2017)
Abstract Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital hydrocephalus is either syndromic
Externí odkaz:
https://doaj.org/article/8adcfada33254a5ea2c7dbc4263f1ac2
Autor:
Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret, Gaël Nicolas, Abdellah Tebani, Soumeya Bekri
Publikováno v:
Life, Vol 11, Iss 3, p 187 (2021)
NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequenc
Externí odkaz:
https://doaj.org/article/c93a77fd112040858a0f105c6bb0c938
Publikováno v:
Périodiques Scientifiques en Édition Électronique.
Lecoq de Boisbaudran François. Sur les sulfates mixtes de cuivre et de nickel. In: Bulletin de la Société française de Minéralogie, volume 12, 3, 1889. pp. 55-56.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4375a298f99381e403640d162a2a22d0
https://www.persee.fr/doc/bulmi_0366-3248_1889_num_12_3_2100
https://www.persee.fr/doc/bulmi_0366-3248_1889_num_12_3_2100