Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Fabien Lesne"'
Autor:
Thierry Prazuck, Raphael Serreau, Aurelie Theillay, Sandra Pallay, Daniela Pires-Roteia, Fanny Prazuck, Fabien Lesne
Publikováno v:
Heliyon, Vol 9, Iss 7, Pp e18088- (2023)
For the last two years, the SARS-CoV-2 virus spread all around the world and led to the COVID-19 pandemic. The need of methods to control the pandemic and to propose rapid and efficient diagnostic tools has emerged. In this perspective, SARS-CoV-2 ra
Externí odkaz:
https://doaj.org/article/34cc7eed24e14740b43f6fe0b458d196
Autor:
Olivier Perche, Fabien Lesne, Alain Patat, Susanne Raab, Roy Twyman, Robert H. Ring, Sylvain Briault
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-7 (2022)
Abstract Background Mutations in the genes encoding the large-conductance calcium-activated potassium channel, especially KCNMA1 encoding its α-subunit, have been linked to several neurological features, including intellectual disability or autism.
Externí odkaz:
https://doaj.org/article/8efb35bc6940431b821ad0c53830657b
Autor:
Olivier Perche, Fabien Lesne, Alain Patat, Susanne Raab, Roy Twyman, Robert H. Ring, Sylvain Briault
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background Disturbances in sensory function are an important clinical feature of neurodevelopmental disorders such as fragile X syndrome (FXS). Evidence also directly connects sensory abnormalities with the clinical expression of behavioral
Externí odkaz:
https://doaj.org/article/9c4d601052b74f959eff15e4beb639d3
Autor:
Jean-Jacques Parienti, Thierry Prazuck, Laure Peyro-Saint-Paul, Anna Fournier, Cécile Valentin, Sylvie Brucato, Renaud Verdon, Aymeric Sève, Mathilda Colin, Fabien Lesne, Jérome Guinard, Meriadeg Ar Gouilh, Julia Dina, Astrid Vabret, Laurent Hocqueloux
Publikováno v:
EClinicalMedicine, Vol 38, Iss , Pp 100993- (2021)
Background: Tenofovir and emtricitabine interfere with the SARS CoV-2 ribonucleic acid (RNA)-dependent RNA polymerase (RdRp). Several cohorts reported that people treated by tenofovir disoproxil fumarate and emtricitabine are less likely to develop S
Externí odkaz:
https://doaj.org/article/5b690fb20be44f46aa4eff4fdce06b69
Autor:
Thierry Prazuck, Raphael Serreau, Aurelie Theillay, Sandra Pallay, Daniela Pires-Roteia, Fanny Prazuck, Fabien Lesne
For the last two years, the SARS-CoV-2 virus spread all around the world and led to the COVID-19 pandemic. The need of methods to control the pandemic and to propose rapid and efficient diagnostic tools has emerged. In this perspective, SARS-CoV-2 ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43ccc55e27dfe76e05c099f7ad4a8082
https://doi.org/10.1101/2022.09.29.22280448
https://doi.org/10.1101/2022.09.29.22280448
Autor:
Susanne Raab, Sylvain Briault, Olivier Perche, Fabien Lesne, Alain Patat, Robert H. Ring, Roy Twyman
Publikováno v:
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-19 (2021)
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-19 (2021)
Background Disturbances in sensory function are an important clinical feature of neurodevelopmental disorders such as fragile X syndrome (FXS). Evidence also directly connects sensory abnormalities with the clinical expression of behavioral impairmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6adc0a088fd0bf4f0bf0bb096ddadfce
https://doi.org/10.1186/s11689-021-09375-0
https://doi.org/10.1186/s11689-021-09375-0
Autor:
Maryvonne Ardourel, Arnaud Pâris, Chloé Felgerolle, Fabien Lesne, Isabelle Ranchon-Cole, Sylvain Briault, Olivier Perche
Publikováno v:
Experimental Eye Research. 224:109238
FMRP, the fragile X mental retardation protein coded by the FMR1 gene, is an RNA-binding protein that assists transport, stabilization and translational regulation of specific synaptic mRNAs. Its expression has been found in multiple cell types of ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b2e38dd7440de5ef53d986b322753e7
https://doi.org/10.1016/j.exer.2022.109238
https://doi.org/10.1016/j.exer.2022.109238
Autor:
Sylvie Brucato, Meriadeg Ar Gouilh, Thierry Prazuck, Julia Dina, Fabien Lesne, Renaud Verdon, Jérôme Guinard, Laurent Hocqueloux, Aymeric Sève, Jean-Jacques Parienti, Laure Peyro-Saint-Paul, Astrid Vabret, Cécile Valentin, A. Fournier, Mathilda Colin
Publikováno v:
EClinicalMedicine
EClinicalMedicine, Vol 38, Iss, Pp 100993-(2021)
EClinicalMedicine, Vol 38, Iss, Pp 100993-(2021)
Background Tenofovir and emtricitabine interfere with the SARS CoV-2 ribonucleic acid (RNA)-dependent RNA polymerase (RdRp). Several cohorts reported that people treated by tenofovir disoproxil fumarate and emtricitabine are less likely to develop SA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a5445215113b360f40ac469075334e
https://pubmed.ncbi.nlm.nih.gov/34222849
https://pubmed.ncbi.nlm.nih.gov/34222849
Autor:
Mathieu Anheim, Perrine Charles, Michel Koenig, Fabien Zagnoli, Yann Péréon, Claire Guissart, Alexandra Durr, Cyril Goizet, Patrick Calvas, François Tison, Alexandre Eusebio, Nelly Fabre, Alexis Brice, Massimo Pandolfo, Claire Lecocq, Karine K. N'Guyen, Wassilios W. Meissner, Gabrielle Rudolf, Elsa E. Robin, Fabien Lesne, Myriam Rai, Jean-Philippe Azulay, Sylvie S. Courtois, Pascal Derkinderen, Christine Tranchant, Mathieu M. Sévin-Allouet, Lucie Guyant-Maréchal, Mathilde Renaud, Nick N. Alaerts
Publikováno v:
Movement Disorders. 31:62-69
Background: Friedreich's ataxia usually occurs before the age of 25. Rare variants have been described, such as late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia, occurring after 25 and 40 years, respectively. We describe the cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18ff605aa3c675d54da8ae387f07317d
https://doi.org/10.1002/mds.26382
https://doi.org/10.1002/mds.26382
Autor:
Amélie Piton, Melanie Bahlo, Paul J. Lockhart, Vesna Lukic, Caroline Nava, David J. Amor, Pierre Bitoun, Vicki Anderson, Fabien Lesne, Greta Gillies, Amanda G. Wood, Justine Guegan, Gail Robinson, Catherine Garel, Alexis Brice, Sarah E.M. Stephenson, Guy A. Rouleau, Aurélie Méneret, Delphine Héron, Kate Pope, Solveig Heide, Cyril Mignot, Emmanuel Roze, Angélique Quartier, Jean-Louis Mandel, Annalisa Paolino, Quentin Welniarz, Sylvie Odent, Florence Riant, George McGillivray, Linda J. Richards, Ilan Gobius, Elliott H. Sherr, Tania Attié-Bitach, Charles A. Galea, Timothy J. Edwards, Myriam Srour, Megan Spencer-Smith, Oriane Trouillard, Laura Morcom, Boris Keren, Christel Depienne, Marie Laure Moutard, Anne Faudet, Richard J. Leventer, Alissandra McIlroy, Agnès Rastetter, Thierry Billette de Villemeur, Simone Mandelstam, Jens Bunt, Martin B. Delatycki, Rick M. Tankard, Ashley P L Marsh
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Nature Genetics, Nature Publishing Group, 2017, 49 (4), pp.511-514. 〈10.1038/ng.3794〉
Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Nature Genetics, Nature Publishing Group, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Nature Genetics, Nature Publishing Group, 2017, 49 (4), pp.511-514. 〈10.1038/ng.3794〉
Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
International audience; Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8ed48cf72d3e7ff3e948cd8c5c51c1d
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01502133/file/Mutations_in_DCC_cause_isolated_agenesis.pdf
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01502133/file/Mutations_in_DCC_cause_isolated_agenesis.pdf