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收藏Deciphering Auditory Hyperexcitability in Otogl Mutant Mice Unravels an Auditory Neuropathy Mechanism揭示Otogl突变小鼠听觉超兴奋性，阐明了听觉神经病变机制
Gagliardini, M; Mechaussier, S; Pina, CC; Morais, M; Postal, O; Jean, P; Dupont, T; Singh-Estivalet, A; Udugampolage, S; Scandola, C; Verpy, E; Libé-Philippot, B; Inbar, TC; Schwenkgrub, J; Spinola, CMB; Etournay, R; El-Amraoui, A; Bathellier, B; Mallet, A; Delmaghani, S; Giraudet, F; Petit, C; Gourévitch, B; Avan, P; Michalski, N 分享 收藏 Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder全外显子组测序将ABHD14A和MRNIP鉴定为发育性语言障碍的新候选基因Bouzid, Amal; Belcadhi, Malek; Souissi, Amal; Chelly, Meryam; Frikha, Fakher; Gargouri, Hela; Bonnet, Crystel; Jebali, Fida; Loukil, Salma; Petit, Christine; Masmoudi, Saber; Hamoudi, Rifat; Ben Said, Mariem 分享 收藏 分享 收藏 Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical modelLahlou, Ghizlene; Calvet, Charlotte; Simon, Francois; Michel, Vincent; Alciato, Lauranne; Plion, Baptiste; Monvel, Jacques Boutet de; Lecomte, Marie-Jose; Beraneck, Mathieu; Petit, Christine; Safieddine, Saaid 分享 收藏 Single- cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapiesJean, Philippe; Tai, Fabienne Wong Jun; Singh-Estivalet, Amrit; Lelli, Andrea; Scandola, Cyril; Megharba, Sebastien; Schmutz, Sandrine; Roux, Solene; Mechaussier, Sabrina; Sudres, Muriel; Mouly, Enguerran; Heritier, Anne-Valerie; Bonnet, Crystel; Mallet, Adeline; Novault, Sophie; Libri, Valentina; Petit, Christine; Michalski, Nicolas 分享 收藏 分享 收藏 Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf CohortSmirnov, Vasily M.; Nassisi, Marco; Mohand-Said, Saddek; Bonnet, Crystel; Aubois, Anne; Devisme, Celine; Dib, Thilissa; Zeitz, Christina; Loundon, Natalie; Marlin, Sandrine; Petit, Christine; Bodaghi, Bahram; Sahel, Jose-Alain; Audo, Isabelle 分享 收藏 分享 收藏 分享 收藏 Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis导致早发性耳聋显性形式的基因的超早期杂合致病变异是严重的老年性耳聋的基础Boucher, Sophie; Tai, Fabienne Wong Jun; Delmaghani, Sedigheh; Lelli, Andrea; Singh-Estivalet, Amrit; Dupont, Typhaine; Niasme-Grare, Magali; Michel, Vincent; Wolff, Nicolas; Bahloul, Amel; Bouyacoub, Yosra; Bouccara, Didier; Fraysse, Bernard; Deguine, Olivier; Collet, Lionel; Thai-Van, Hung; Ionescu, Eugen; Kemeny, Jean-Louis; Giraudet, Fabrice; Lavieille, Jean-Pierre; Deveze, Arnaud; Roudevitch-Pujol, Anne-Laure; Vincent, Christophe; Renard, Christian; Franco-Vidal, Valerie; Thibult-Apt, Claire; Darrouzet, Vincent; Bizaguet, Eric; Coez, Arnaud; Aschard, Hugues; Michalski, Nicolas; Lefevre, Gaelle M.; Aubois, Anne; Avan, Paul; Bonnet, Crystel; Petit, Christine 分享 收藏 Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cellsMichel, Vincent; Pepermans, Elise; de Monvel, Jacques Boutet; England, Patrick; Nouaille, Sylvie; Aghaie, Alain; Delhommel, Florent; Wolff, Nicolas; Perfettini, Isabelle; Hardelin, Jean-Pierre; Petit, Christine; Bahloul, Amel 分享 收藏 SpiCee: A Genetic Tool for Subcellular and Cell-Specific Calcium ManipulationRos, Oriol; Baudet, Sarah; Zagar, Yvrick; Loulier, Karine; Roche, Fiona; Couvet, Sandrine; Aghaie, Alain; Atkins, Melody; Louail, Alice; Petit, Christine; Metin, Christine; Mechulam, Yves; Nicol, Xavier 分享 收藏 分享 收藏 分享 收藏 Clarin-2 is essential for hearing by maintaining stereocilia integrity and functionDunbar, Lucy A.; Patni, Pranav; Aguilar, Carlos; Mburu, Philomena; Corns, Laura; Wells, Helena R. R.; Delmaghani, Sedigheh; Parker, Andrew; Johnson, Stuart; Williams, Debbie; Esapa, Christopher T.; Simon, Michelle M.; Chessum, Lauren; Newton, Sherylanne; Dorning, Joanne; Jeyarajan, Prashanthini; Morse, Susan; Lelli, Andrea; Codner, Gemma F.; Peineau, Thibault; Gopal, Suhasini R.; Alagramam, Kumar N.; Hertzano, Ronna; Dulon, Didier; Wells, Sara; Williams, Frances M.; Petit, Christine; Dawson, Sally J.; Brown, Steve D. M.; Marcotti, Walter; El-Amraoui, Aziz; Bowl, Michael R. 分享 收藏 分享 收藏 SponGee: A Genetic Tool for Subcellular and Cell-Specific cGMP ManipulationRos, Oriol; Zagar, Yvrick; Ribes, Solene; Baudet, Sarah; Loulier, Karine; Couvet, Sandrine; Ladarre, Delphine; Aghaie, Alain; Louail, Alice; Petit, Christine; Mechulam, Yves; Lenkei, Zsolt; Nicol, Xavier 分享 收藏 A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene一个突尼斯家庭，其CYP4F22基因发生了新的突变，导致层状鱼鳞病，并且由于SLC26A4基因突变而导致儿童听力损失Sayeb, Marwa; Riahi, Zied; Laroussi, Nadia; Bonnet, Crystel; Romdhane, Lilia; Mkaouar, Rahma; Zaouak, Anissa; Marrakchi, Jihene; Abdessalem, Ghaith; Messaoud, Olfa; Bouchniba, Oussema; Ghilane, Nacer; Mokni, Mourad; Besbes, Ghazi; Yacoub-Youssef, Houda; Petit, Christine; Abdelhak, Sonia 分享 收藏 分享 收藏 
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