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Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.
Delmaghani S, Defourny J, Aghaie A, Beurg M, Dulon D, Thelen N, Perfettini I, Zelles T, Aller M, Meyer A, Emptoz A, Giraudet F, Leibovici M, Dartevelle S, Soubigou G, Thiry M, Vizi ES, Safieddine S, Hardelin JP, Avan P, Petit C. Delmaghani S, et al. Among authors: perfettini i. Cell. 2015 Nov 5;163(4):894-906. doi: 10.1016/j.cell.2015.10.023. Cell. 2015. PMID: 26544938 Free article.
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
Sahly I, Dufour E, Schietroma C, Michel V, Bahloul A, Perfettini I, Pepermans E, Estivalet A, Carette D, Aghaie A, Ebermann I, Lelli A, Iribarne M, Hardelin JP, Weil D, Sahel JA, El-Amraoui A, Petit C. Sahly I, et al. Among authors: perfettini i. J Cell Biol. 2012 Oct 15;199(2):381-99. doi: 10.1083/jcb.201202012. Epub 2012 Oct 8. J Cell Biol. 2012. PMID: 23045546 Free PMC article.
An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells.
Kamiya K, Michel V, Giraudet F, Riederer B, Foucher I, Papal S, Perfettini I, Le Gal S, Verpy E, Xia W, Seidler U, Georgescu MM, Avan P, El-Amraoui A, Petit C. Kamiya K, et al. Among authors: perfettini i. Proc Natl Acad Sci U S A. 2014 Jun 24;111(25):9307-12. doi: 10.1073/pnas.1405322111. Epub 2014 Jun 11. Proc Natl Acad Sci U S A. 2014. PMID: 24920589 Free PMC article.
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C. Delmaghani S, et al. Among authors: perfettini i. Am J Hum Genet. 2016 Jun 2;98(6):1266-1270. doi: 10.1016/j.ajhg.2016.04.015. Am J Hum Genet. 2016. PMID: 27259055 Free PMC article.
19 results