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Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.
Vaché C, Cubedo N, Mansard L, Sarniguet J, Baux D, Faugère V, Baudoin C, Moclyn M, Touraine R, Lina-Granade G, Cossée M, Bergougnoux A, Kalatzis V, Rossel M, Roux AF. Vaché C, et al. Among authors: rossel m. Eur J Hum Genet. 2023 Jul;31(7):834-840. doi: 10.1038/s41431-023-01374-0. Epub 2023 May 12. Eur J Hum Genet. 2023. PMID: 37173411 Free PMC article.
Zebrafish Models to Study New Pathways in Tauopathies.
Barbereau C, Cubedo N, Maurice T, Rossel M. Barbereau C, et al. Among authors: rossel m. Int J Mol Sci. 2021 Apr 28;22(9):4626. doi: 10.3390/ijms22094626. Int J Mol Sci. 2021. PMID: 33924882 Free PMC article. Review.
Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models.
Crouzier L, Danese A, Yasui Y, Richard EM, Liévens JC, Patergnani S, Couly S, Diez C, Denus M, Cubedo N, Rossel M, Thiry M, Su TP, Pinton P, Maurice T, Delprat B. Crouzier L, et al. Among authors: rossel m. Sci Transl Med. 2022 Feb 9;14(631):eabh3763. doi: 10.1126/scitranslmed.abh3763. Epub 2022 Feb 9. Sci Transl Med. 2022. PMID: 35138910 Free PMC article.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Bassani S, van Beelen E, Rossel M, Voisin N, Morgan A, Arribat Y, Chatron N, Chrast J, Cocca M, Delprat B, Faletra F, Giannuzzi G, Guex N, Machavoine R, Pradervand S, Smits JJ, van de Kamp JM, Ziegler A, Amati F, Marlin S, Kremer H, Locher H, Maurice T, Gasparini P, Girotto G, Reymond A. Bassani S, et al. Among authors: rossel m. Hum Mol Genet. 2021 Sep 15;30(19):1785-1796. doi: 10.1093/hmg/ddab145. Hum Mol Genet. 2021. PMID: 34059922
68 results