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Patient experience in retinitis pigmentosa and Choroideremia– a concept elicitation study in 17 patients based on qualitative interviews by Elke Rometsch, Per-Olof Thuresson, Noémie Hurst, Eckhart Eule, Isabel Bachmeier, Benoit Blanchard, José-Alain Sahel, Isabelle Audo
Published 2025-08-01Get full text
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Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines by Andréa Amprou, Tasnim Ben Yacoub, Camille Letellier, Vincenzo Degaetano, Cécile Méjécase, Leila Azizzadeh Pormehr, Christel Condroyer, Amélie Slembrouck-Brec, Juliette Wohlschlegel, Olivier Goureau, Christina Zeitz, Isabelle Audo
Published 2024-12-01Get full text
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Reactivating the phototransduction cascade with a mutation agnostic gene therapy preserves vision in rod-cone dystrophies by Cardillia-Joe Simon, Hanen Khabou, Antoine Chaffiol, Marco Rucli, Marion Finzi, Nat Norberg, Anaïs Grimaud, Brix Mücher, Mélissa Desrosiers, Serge Sancho, Vera Lucia Bonilha, Kate Grieve, Jens Duebel, Michel Paques, Serge Picaud, José Alain Sahel, Isabelle Audo, Stefan Herlitze, Deniz Dalkara
Published 2025-04-01Get full text
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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment by Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui Sousa-Luis, Christel Thauvin-Robinet, Erwin L. van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault
Published 2024-11-01Get full text
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