Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)

Autor: Lacombe, Didier, Calmels, Nadège, Andre, Carole, Reboul, Marie-Pierre, Biancalana, Valérie, Bitoun, Anaïs, Cottet, Christian, de Castelmur, Marie, Haushalter, Virginie, Helot, Isabelle, Nourisson, Elsa, Philippe, Elodie, Pommier, Valentine, Arveiler, Benoit, Nabarette, Hervé, de Feraudy, Yvan, Raclet, Virginie, Ramousset, Carole, Reneaud, Hélène, Richard, Hugo, Romain, Sarah, Bouffard-Dubeau, Catherine, Pomies, Christine, Attarian, Shahram, Stalens, Caroline, Vaidie, Amandine, Espil-Taris, Caroline, Laugel, Vincent

Publikováno v: In Bulletin de l'Académie Nationale de Médecine January 2024 208(1):86-94

HuR counteracts miR-330 to promote STAT3 translation during inflammation-induced muscle wasting

Autor: Mubaid, Souad, Ma, Jennifer F., Omer, Amr, Ashour, Kholoud, Lian, Xian J., Sanchez, Brenda J., Robinson, Samantha, Cammas, Anne, Dormoy-Raclet, Virginie, Di Marco, Sergio, Chittur, Sridar V., Tenenbaum, Scott A., Gallouzi, Imed-Eddine

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2019 Aug . 116(35), 17261-17270.

Externí odkaz: https://www.jstor.org/stable/26850750

Expanding the phenotypic and genetic CUX2 spectrum

Autor: Furlan, Margherita, Lesca, Gaetan, Carvill, Gemma Louise, Hammer, Trine Bjorg, Schneider, Amy, Aledo-Serrano, Angel, Corrado Romano, Borresen, Malene Landbo, Scheffer, Ingrid, Giorgi, Laetitia, Michaud, Vincent, Raclet, Virginie, Bracher, Linda, Aronsson, Johan, Maurey, Helene, Bouilleret, Viviane, Kuchler, Alma, Parisi, Pasquale, Moeller, Rikke Steensbjerre, Gardella, Elena

Publikováno v: Furlan, M, Lesca, G, Carvill, G L, Hammer, T B, Schneider, A, Aledo-Serrano, A, Romano, C, Borresen, M L, Scheffer, I, Giorgi, L, MIchaud, V, Raclet, V, Bracher, L, Aronsson, J, Maurey, H, Bouilleret, V, Kuchler, A, Parisi, P, Moeller, R S & Gardella, E 2021, ' Expanding the phenotypic and genetic CUX2 spectrum ', Epilepsia, vol. 62, no. Suppl. 3, pp. 217-218 . https://doi.org/10.1111/epi.17079
Publons
Web of Science

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::58de5e6ace13fef5fd10616afa77eee0
https://portal.findresearcher.sdu.dk/da/publications/2e68545f-e2aa-41fb-9f65-dcad0091814a

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

Autor: de Sainte Agathe, Jean-Madeleine, Van-Gils, Julien, Lasseaux, Eulalie, Arveiler, Benoît, Lacombe, Didier, Pfirrmann, Clémence, Raclet, Virginie, Gaston, Laetitia, Plaisant, Claudio, Aupy, Jérôme, Trimouille, Aurélien

Publikováno v: In European Journal of Medical Genetics August 2020 63(8)

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