Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Antoinette Gelot"'
Autor:
Laura Planas-Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Heron, Cristina Jou, Natalia Juliá-Palacios, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Carolina De La Torre, Antoinette Gelot, Maria Marsal, Pablo Loza-Alvarez, Àngels García-Cazorla, Ali Fatemi, Isidre Ferrer, Manel Portero-Otin, Estela Area-Gómez, Aurora Pujol
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Sphingolipids function as membrane constituents and signaling molecules, with crucial roles in human diseases, from neurodevelopmental disorders to cancer, best exemplified in the inborn errors of sphingolipid metabolism in lysosomes. The dihydrocera
Externí odkaz:
https://doaj.org/article/57a458aa84644ca19559b39fa3a6a489
Autor:
Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-10 (2021)
Abstract The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca2+-dependent muscle contraction. Abnormal RyR1 activity compromises normal musc
Externí odkaz:
https://doaj.org/article/5cf31dd78b474640baaf16ef899f028a
Publikováno v:
Frontiers in Neuroanatomy, Vol 16 (2022)
Externí odkaz:
https://doaj.org/article/321bfa43ed794f88ae494da82293949a
Publikováno v:
médecine/sciences. 38:553-561
La panencéphalite sclérosante subaiguë (PESS), une complication tardive de la rougeole, est encore présente lors d’épidémies de cette maladie dues aux insuffisances de la vaccination. Après un rappel historique, nous aborderons la physiopath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ebdfe5b325a5dee42539910cc5885d6
https://doi.org/10.1051/medsci/2022081
https://doi.org/10.1051/medsci/2022081
Autor:
Leila Slaoui, Alice Gilbert, Armelle Rancillac, Barbara Delaunay-Piednoir, Audrey Chagnot, Quentin Gerard, Gaëlle Letort, Philippe Mailly, Noémie Robil, Antoinette Gelot, Mathilde Lefebvre, Maryline Favier, Karine Dias, Laurent Jourdren, Laetitia Federici, Sylvain Auvity, Salvatore Cisternino, Denis Vivien, Martine Cohen-Salmon, Anne-Cécile Boulay
Publikováno v:
Brain Structure and Function
Brain Structure and Function, 2022, ⟨10.1007/s00429-022-02592-w⟩
Brain Structure and Function, 2022, ⟨10.1007/s00429-022-02592-w⟩
International audience; Although great efforts to characterize the embryonic phase of brain microvascular system development have been made, its postnatal maturation has barely been described. Here, we compared the molecular and functional properties
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dd881b558c7068d51f6c31e14da36da
https://hal.science/hal-03903326/file/Binder1.pdf
https://hal.science/hal-03903326/file/Binder1.pdf
Autor:
Pierre, Lebon, Antoinette, Gelot, Shen-Ying, Zhang, Jean-Laurent, Casanova, Jean-Jacques, Hauw
Publikováno v:
Medecine sciences : M/S. 38(6-7)
Subacute sclerosing panencephalitis, a late complication of measles, is still present during epidemics of this disease due to insufficient vaccination. After a historical review, the importance of the diagnostic criteria and the pathophysiology of SS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d76b2312cb8ddc183e3a290b2befc879
https://pubmed.ncbi.nlm.nih.gov/35766853
https://pubmed.ncbi.nlm.nih.gov/35766853
Autor:
Shridhar Parthasarathy, Sarah M Ruggiero, Antoinette Gelot, Fernanda C Soardi, Bethânia F R Ribeiro, Douglas E V Pires, David B Ascher, Alain Schmitt, Caroline Rambaud, Hongbo M Xie, Laina Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, Alexandra N Grace, Julien Buratti, Cyril Mignot, Domitille Gras, Caroline Nava, Samuel R Pierce, Boris Keren, Benjamin C Kennedy, Sergio D J Pena, Ingo Helbig, Vishnu Anand Cuddapah
Heterozygous pathogenic variants in DNM1 cause developmental and epileptic encephalopathy (DEE) due to a dominant-negative mechanism impeding vesicular fission. Thus far, pathogenic variants in DNM1 have been studied using a canonical transcript that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8eeaf7f665906b9dfae300d539e945ec
https://doi.org/10.1101/2022.06.02.492389
https://doi.org/10.1101/2022.06.02.492389
Autor:
Leila Slaoui, Alice Gilbert, Armelle Rancillac, Audrey Chagnot, Laetitia Federici, Quentin Gerard, Antoinette Gelot, Mathilde Becmeur-Lefebvre, Maryline Favier, Noémie Robil, Gaëlle Letort, Karine Dias, Laurent Jourdren, Philippe Mailly, Sylvain Auvity, Salvatore Cisternino, Denis Vivien, Martine Cohen-Salmon, Anne-Cécile Boulay
Although great efforts to characterize the embryonic phase of brain microvascular system development have been made, its postnatal maturation has barely been described. Here, we compared the molecular and functional properties of brain vascular cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::599ea77ba05a79c8e2a23f52094093a4
https://doi.org/10.21203/rs.3.rs-1608620/v1
https://doi.org/10.21203/rs.3.rs-1608620/v1
Autor:
Marion Coolen, Nami Altin, Karthyayani Rajamani, Eva Pereira, Karine Siquier-Pernet, Emilia Puig Lombardi, Nadjeda Moreno, Giulia Barcia, Marianne Yvert, Annie Laquerrière, Aurore Pouliet, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Féréchté Razavi, Alexandra Afenjar, Thierry Billette de Villemeur, Almundher Al-Maawali, Khalid Al-Thihli, Julia Baptista, Ana Beleza-Meireles, Catherine Garel, Marine Legendre, Antoinette Gelot, Lydie Burglen, Sébastien Moutton, Vincent Cantagrel
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.03.010⟩
Am J Hum Genet
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.03.010⟩
Am J Hum Genet
Pontocerebellar hypoplasias (PCHs) are congenital disorders characterized by hypoplasia or early atrophy of the cerebellum and brainstem, leading to a very limited motor and cognitive development. Although over 20 genes have been shown to be mutated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d7a9db33865434b1804b62cde18c38
https://amu.hal.science/hal-03654319
https://amu.hal.science/hal-03654319
Autor:
Thibault Coste, Catherine Vincent‐Delorme, Morgane Stichelbout, Louise Devisme, Antoinette Gelot, Igor Deryabin, Fanny Pelluard, Chaker Aloui, Anne‐Louise Leutenegger, Jean‐Marie Jouannic, Delphine Héron, Douglas B Gould, Elisabeth Tournier‐Lasserve
Publikováno v:
Prenatal diagnosisREFERENCES. 42(5)
Variants of COL4A1/COL4A2 genes have been reported in fetal intracranial hemorrhage (ICH) cases but their prevalence and characteristics have not been established in a large series of fetuses. Fetal neonatal alloimmune thrombocytopenia is a major acq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d468d27927e1dd84e81de06bdca821e
https://pubmed.ncbi.nlm.nih.gov/35150448
https://pubmed.ncbi.nlm.nih.gov/35150448