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Membres
Aziz El Amraoui
Responsable de Structure
Responsable
Anciens Membres
2000
2000
Name
Position
2015
2020
Matteo Cortese
PhD Student
2015
2020
Chiara Benedetto
Research Engineer
(EN) 2020
(EN) 2020
(EN) Ana Mesic
(EN) Master Student
Projets
Projet Transversal
Financements
Partenaires
Publications
Télécharger-
2018Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome, J. Clin. Invest. 2018 Jul;.
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2018Variants in CIB2 cause DFNB48 and not USH1J, Clin. Genet. 2018 Apr;93(4):812-821.
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2018Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments, Sci Rep 2018 Jan;8(1):1968.
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2017CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival, EMBO Mol Med 2017 Dec;9(12):1711-1731.
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2017Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery, FEBS Lett. 2017 08;591(15):2299-2310.
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2017Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment, J. Cell Biol. 2017 Jun;216(6):1849-1864.
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2017Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians, Proc. Natl. Acad. Sci. U.S.A. 2017 Feb;114(8):2054-2059.
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2016Cadherins in the auditory sensory organ, Shintaro T. Suzuki & Shinji Hirano (eds.), In The Cadherin Superfamily, Springer, Japan. pp 341-361 (2016).
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2016Novel gene function revealed by mouse mutagenesis screens for models of age-related disease, Nat Commun 2016 Aug;7:12444.
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2016An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients, Eur. J. Hum. Genet. 2016 Dec;24(12):1730-1738.
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Contact
Phone: Email: Address 25-28 Rue du Docteur Roux 75015, Paris France