Validation of a Score for the Detection of Subjects with High Risk for Severe High-Altitude Illness

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⟩

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

A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics

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

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

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

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

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

Sur les sulfates mixtes de cuivre et de nickel

Autor: François Lecoq de Boisbaudran

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