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XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa MacLaren, Robert E.; Duncan, Jacque L.; Fischer, M. Dominik; Lam, Byron L.; Meunier, Isabelle; Pennesi, Mark E.; Sankila, Eeva-Marja K.; Gow, James A.; Li, Jiang; Tsang, So-Fai 分享 收藏
Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy Damodar, Krishna; Dubois, Gregor; Guillou, Laurent; Mamaeva, Daria; Pequignot, Marie; Erkilic, Nejla; Sanjurjo-Soriano, Carla; Boukhaddaoui, Hassan; Bernex, Florence; Bocquet, Beatrice; Vialaret, Jerome; Arsenijevic, Yvan; Redmond, T. Michael; Hirtz, Christopher; Meunier, Isabelle; Brabet, Philippe; Kalatzis, Vasiliki 分享 收藏
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Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa Vache, Christel; Faugere, Valerie; Baux, David; Mansard, Luke; Van Goethem, Charles; Dhaenens, Claire-Marie; Grunewald, Olivier; Audo, Isabelle; Zeitz, Christina; Meunier, Isabelle; Bocquet, Beatrice; Cossee, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Roux, Anne-Francoise 分享 收藏
A Prospective, Observational, Non-interventional Clinical Study of Participants With Choroideremia: The NIGHT Study Maclaren, Robert E.; Lam, Byron l.; Fischer, M. Dominik; Holz, Frank G.; Pennesi, Mark E.; Birch, David G.; Sankila, Eeva-Marja; Meunier, Isabelle Anne; Stepien, Kimberly E.; Sallum, Juliana Maria Ferraz; Li, Jiang; Yoon, Dan; Panda, Sushil; Gow, James A. 分享 收藏
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A.; Sergeev, Yuri, V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J.; Prasov, Lev; Shi, Ruifang; Dollfus, Helene; Aristodemou, Petros; Laich, Yannik; Nemeth, Andrea H.; Taylor, John; Downes, Susan; Krawczynski, Maciej R.; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A.; Moore, Anthony T.; Duncan, Jacque L.; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L.; Siskind, Carly E.; Traboulsi, Elias, I; Blackstone, Craig; Sisk, Robert A.; Utz, Virginia Miraldi; Webster, Andrew R.; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B. 分享 收藏
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa Bocquet, Beatrice; Borday, Caroline; Erkilic, Nejla; Mamaeva, Daria; Donval, Alicia; Masson, Christel; Parain, Karine; Kaminska, Karolina; Quinodoz, Mathieu; Perea-Romero, Irene; Garcia-Garcia, Gema; Jimenez-Medina, Carla; Boukhaddaoui, Hassan; Coget, Arthur; Leboucq, Nicolas; Calzetti, Giacomo; Gandolfi, Stefano; Percesepe, Antonio; Barili, Valeria; Uliana, Vera; Delsante, Marco; Bozzetti, Francesca; Scholl, Hendrik P. N.; Corton, Marta; Ayuso, Carmen; Millan, Jose M.; Rivolta, Carlo; Meunier, Isabelle; Perron, Muriel; Kalatzis, Vasiliki 分享 收藏
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids Sanjurjo-Soriano, Carla; Jimenez-Medina, Carla; Erkilic, Nejla; Cappellino, Luisina; Lefevre, Arnaud; Nagel-Wolfrum, Kerstin; Wolfrum, Uwe; Van Wijk, Erwin; Roux, Anne-Francoise; Meunier, Isabelle; Kalatzis, Vasiliki 分享 收藏
Atypical Foveal Hypoplasia in Best Disease Moret, Emmanuelle; Lejoyeux, Raphael; Bonnin, Sophie; Azar, Georges; Guillaume, Jessica; Le Cossec, Chloe; Lafolie, Justine; Alonso, Anne-Sophie; Favard, Catherine; Meunier, Isabelle; Vasseur, Vivien; Mauget-Faysse, Martine 分享 收藏
Retinoic acid delays initial photoreceptor differentiation and results in a highly structured mature retinal organoid Sanjurjo-Soriano, Carla; Erkilic, Nejla; Damodar, Krishna; Boukhaddaoui, Hassan; Diakatou, Michalitsa; Garita-Hernandez, Marcela; Mamaeva, Daria; Dubois, Gregor; Jazouli, Zhour; Jimenez-Medina, Carla; Goureau, Olivier; Meunier, Isabelle; Kalatzis, Vasiliki 分享 收藏
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy Xq28蓝色锥单色下的OPN1LW/OPN1MW基因簇的亚显微结构变异景观 Wissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur, V; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias, I; Hardcastle, Alison J.; Gardner, Jessica C.; Michaelides, Michel; Branham, Kari E.; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Helene; Birch, David; Vincent, Andrea L.; Martorell, Loreto; Mora, Jaume Catala; Kellner, Ulrich; Ruther, Klaus; Lorenz, Birgit; Preising, Markus N.; Manfredini, Emanuela; Zarate, Yuri A.; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G.; Kohl, Susanne 分享 收藏
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia 受全光影响的患者中CNGA3基因的综合变异谱 Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias, I; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne 分享 收藏
QR-421a RNA therapy in retinitis pigmentosa due to mutations in USH2A: Stellar trial Phase[AP1] 1b/2 interim results Audo, Isabelle; Birch, David G.; Jayasundera, K. Thiran; Meunier, Isabelle; Huckfeldt, Rachel M.; Koenekoop, Robert K.; Yang, Paul; de Cock, Edouard P. M.; Dahler, Ellen C.; Taylor, John; Shams, Naveed; Girach, Aniz 分享 收藏
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families Benkirane, Mehdi; Marelli, Cecilia; Guissart, Claire; Roubertie, Agathe; Ollagnon, Elizabeth; Choumert, Ariane; Fluchere, Frederique; Magne, Fabienne Ory; Halleb, Yosra; Renaud, Mathilde; Larrieu, Lise; Baux, David; Patat, Olivier; Bousquet, Idriss; Ravel, Jean-Marie; Cuntz-Shadfar, Danielle; Sarret, Catherine; Ayrignac, Xavier; Rolland, Anne; Morales, Raoul; Pointaux, Morgane; Lieutard-Haag, Cathy; Laurens, Brice; Tillikete, Caroline; Bernard, Emilien; Mallaret, Martial; Carra-Dalliere, Clarisse; Tranchant, Christine; Meyer, Pierre; Damaj, Lena; Pasquier, Laurent; Acquaviva, Cecile; Chaussenot, Annabelle; Isidor, Bertrand; Nguyen, Karine; Camu, William; Eusebio, Alexandre; Carriere, Nicolas; Riquet, Audrey; Thouvenot, Eric; Gonzales, Victoria; Carme, Emilie; Attarian, Shahram; Odent, Sylvie; Castrioto, Anna; Ewenczyk, Claire; Charles, Perrine; Kremer, Laurent; Sissaoui, Samira; Bahi-buisson, Nadia; Kaphan, Elsa; Degardin, Adrian; Doray, Berenice; Julia, Sophie; Remerand, Ganaelle; Fraix, Valerie; Haidar, Lydia Abou; Lazaro, Leila; Laugel, Vincent; Villega, Frederic; Charlin, Cyril; Frismand, Solene; Moreira, Marinha Costa; Witjas, Tatiana; Francannet, Christine; Walther-Louvier, Ulrike; Fradin, Melanie; Chabrol, Brigitte; Fluss, Joel; Bieth, Eric; Castelnovo, Giovanni; Vergnet, Sylvain; Meunier, Isabelle; Verloes, Alain; Brischoux-Boucher, Elise; Coubes, Christine; Genevieve, David; Lebouc, Nicolas; Azulay, Jean Phillipe; Anheim, Mathieu; Goizet, Cyril; Rivier, Francois; Labauge, Pierre; Calvas, Patrick; Koenig, Michel 分享 收藏
Characterization of SSBP1-related optic atrophy and foveopathy Meunier, Isabelle; Bocquet, Beatrice; Defoort-Dhellemmes, Sabine; Smirnov, Vasily; Arndt, Carl; Picot, Marie Christine; Dollfus, Helene; Charif, Majida; Audo, Isabelle; Huguet, Helena; Zanlonghi, Xavier; Lenaers, Guy 分享 收藏
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