Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Cecile Pagan"'
Autor:
Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari, Yann Nadjar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of the most commo
Externí odkaz:
https://doaj.org/article/d3cb3bd6df1b496293971bd9fcb2ed7b
Autor:
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait‐El‐Mkadem Saadi, Valérie Desquiret‐Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati‐Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean‐Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie‐Laure Martin‐Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva‐Bourdain, Cécile Pagan, Anne‐Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis‐Flucklinger, MitoDiag's Network Collaborators, Vincent Procaccio
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)
Abstract Objective The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitocho
Externí odkaz:
https://doaj.org/article/e4307533a35a473a9b33fb23706ccfa7
Autor:
Magali Pettazzoni, Cecile Pagan, Philippe Latour, Gilles Millat, Yann Nadjar, Bénédicte Héron, Marie T. Vanier
Publikováno v:
Molecular Genetics and Metabolism. 138:107264
Autor:
Eduardo Couchonnal, Sophie Bouchard, Thomas Damgaard Sandahl, Cecile Pagan, Laurence Lion-François, Olivier Guillaud, Dalila Habes, Dominique Debray, Thierry Lamireau, Pierre Broué, Alexandre Fabre, Claire Vanlemmens, Rodolphe Sobesky, Frederic Gottrand, Laure Bridoux-Henno, Abdelouahed Belmalih, Aurelia Poujois, Corinne Collet, Micheline Misrahi, Bruno Francou, Anne Sophie Brunet, Alain Lachaux, Muriel Bost
Publikováno v:
Couchonnal, E, Bouchard, S, Sandahl, T D, Pagan, C, Lion-François, L, Guillaud, O, Habes, D, Debray, D, Lamireau, T, Broué, P, Fabre, A, Vanlemmens, C, Sobesky, R, Gottrand, F, Bridoux-Henno, L, Belmalih, A, Poujois, A, Brunet, A S, Lachaux, A & Bost, M 2021, ' Corrigendum to "ATP7B variant spectrum in a French pediatric Wilson disease cohort" [Eur. J. Med. Genet. 64(10) (2021) 104305] ', European Journal of Medical Genetics, vol. 64, no. 11, pp. 104341 . https://doi.org/10.1016/j.ejmg.2021.104341
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2021, 64 (11), pp.104341. ⟨10.1016/j.ejmg.2021.104341⟩
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2021, 64 (11), pp.104341. ⟨10.1016/j.ejmg.2021.104341⟩
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a648abc67dca1b7458242e2fc0865d
http://hdl.handle.net/20.500.12278/123774
http://hdl.handle.net/20.500.12278/123774
Autor:
Eduardo Couchonnal, Sophie Bouchard, Thomas Damgaard Sandahl, Cecile Pagan, Laurence Lion-François, Olivier Guillaud, Dalila Habes, Dominique Debray, Thierry Lamireau, Pierre Broué, Alexandre Fabre, Claire Vanlemmens, Rodolphe Sobesky, Frederic Gottrand, Laure Bridoux-Henno, Abdelouahed Belmalih, Aurelia Poujois, Corinne Collet, Bruno Francou, Anne Sophie Brunet, Alain Lachaux, Micheline Misrahi, Muriel Bost
Publikováno v:
European Journal of Medical Genetics. 65:104453
Autor:
Jean-Marie Launay, Richard Delorme, Cécile Pagan, Jacques Callebert, Marion Leboyer, Nicolas Vodovar
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Hyperserotonemia is the most replicated biochemical anomaly associated with autism spectrum disorder (ASD) and has been reported in 35–46% of individuals with ASD. Serotonin is synthesised from the essential amino acid tryptophan (TRP). Ho
Externí odkaz:
https://doaj.org/article/65dc33d638864954abaaef6346488306
Autor:
Erik, Maronde, Anastasia, Saade, Katrin, Ackermann, Hany, Goubran-Botros, Cecile, Pagan, Roman, Bux, Thomas, Bourgeron, Faramarz, Dehghani, Jörg H, Stehle
Publikováno v:
Journal of pineal research. 51(1)
Time of day is communicated to the body through rhythmic cues, including pineal gland melatonin synthesis, which is restricted to nighttime. Whereas in most rodents transcriptional regulation of the arylalkylamine N-acetyltransferase (Aanat) gene is
Autor:
Cécile Pagan, Marion Benabou, Claire Leblond, Freddy Cliquet, Alexandre Mathieu, Nathalie Lemière, Hany Goubran-Botros, Richard Delorme, Marion Leboyer, Jacques Callebert, Thomas Bourgeron, Jean-Marie Launay
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Hyperserotonemia is the most replicated biochemical abnormality associated with autism spectrum disorders (ASD). However, previous studies of serotonin synthesis, catabolism, and transport have not elucidated the mechanisms underlying this h
Externí odkaz:
https://doaj.org/article/b4b9eb21b06748ebbc6ea0d7aceced5f
Autor:
Cécile Pagan, Hany Goubran-Botros, Richard Delorme, Marion Benabou, Nathalie Lemière, Kerren Murray, Frédérique Amsellem, Jacques Callebert, Pauline Chaste, Stéphane Jamain, Fabien Fauchereau, Guillaume Huguet, Erik Maronde, Marion Leboyer, Jean-Marie Launay, Thomas Bourgeron
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Abstract Autism spectrum disorders (ASD) are characterized by a wide genetic and clinical heterogeneity. However, some biochemical impairments, including decreased melatonin (crucial for circadian regulation) and elevated platelet N-acetylserotonin (
Externí odkaz:
https://doaj.org/article/f46cefc850c64dbfa6f36f39d8a0b82c
Autor:
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan
Publikováno v:
PLoS ONE, Vol 12, Iss 7, p e0181700 (2017)
The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in p
Externí odkaz:
https://doaj.org/article/fd0672a8f80744aca9128fef33710819