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收藏分享 收藏 Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene原发性纤毛运动障碍与视网膜色素变性：新的RPGR变异及可能的修饰基因
Baz-Redon, Noelia; Sanchez-Bellver, Laura; Fernandez-Cancio, Monica; Rovira-Amigo, Sandra; Burgoyne, Thomas; Ranjit, Rai; Aquino, Virginia; Toro-Barrios, Noemi; Carmona, Rosario; Polverino, Eva; Cols, Maria; Moreno-Galdo, Antonio; Camats-Tarruella, Nuria; Marfany, Gemma 分享 收藏 A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survivalIzquierdo-Villalba, Ismael; Mirra, Serena; Manso, Yasmina; Parcerisas, Antoni; Rubio, Javier; Del Valle, Jaume; Gil-Bea, Francisco J.; Ulloa, Fausto; Herrero-Lorenzo, Marina; Verdaguer, Ester; Beninca, Cristiane; Castro-Torres, Ruben D.; Rebollo, Elena; Marfany, Gemma; Auladell, Carme; Navarro, Xavier; Enriquez, Jose A.; de Munain, Adolfo Lopez; Soriano, Eduardo; Aragay, Anna M. 分享 收藏 Exacerbated response to oxidative stress in the Retinitis Pigmentosa CerklKD/KO mouse model triggers retinal degeneration pathways upon acute light stressGarcia-Arroyo, Rocio; Domenech, Elena B.; Herrera-Ubeda, Carlos; Asensi, Miguel A.; de Arenas, Cristina Nunez; Cuezva, Jose M.; Garcia-Fernandez, Jordi; Pallardo, Federico, V; Mirra, Serena; Marfany, Gemma 分享 收藏 Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2Schaaf-yang综合征病理生理学的进展: 从床边到截短的MAGEL2的亚细胞分析Castilla-Vallmanya, Laura; Centeno-Pla, Monica; Serrano, Mercedes; Franco-Valls, Hector; Martinez-Cabrera, Raul; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A. G.; Seoane, Pedro; Oliva, Clara; Paredes-Fuentes, Abraham J.; Marfany, Gemma; Artuch, Rafael; Grinberg, Daniel; Rabionet, Raquel; Balcells, Susanna; Urreizti, Roser 分享 收藏 分享 收藏 Altered retinal structure and function in Spinocerebellar ataxia type 3Toulis, Vasileios; Casaroli-Marano, Ricardo; Camos-Carreras, Anna; Figueras-Roca, Marc; Sanchez-Dalmau, Bernardo; Munoz, Esteban; Ashraf, Naila S.; Ferreira, Ana F.; Khan, Naheed; Marfany, Gemma; Costa, Maria do Carmo 分享 收藏 分享 收藏 CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retinaCERKL，视网膜营养不良基因，调节哺乳动物视网膜中的线粒体功能和动力学Mirra, Serena; Garcia-Arroyo, Rocio; Domenech, Elena B.; Gavalda-Navarro, Aleix; Herrera-Ubeda, Carlos; Oliva, Clara; Garcia-Fernandez, Jordi; Artuch, Rafael; Villarroya, Francesc; Marfany, Gemma 分享 收藏 分享 收藏 The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the RetinaToulis, Vasileios; Garcia-Monclus, Silvia; de la Pena-Ramirez, Carlos; Arenas-Galnares, Rodrigo; Abril, Josep F.; Todi, Sokol, V; Khan, Naheed; Garanto, Alejandro; do Carmo Costa, Maria; Marfany, Gemma 分享 收藏 Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functionsNavas-Perez, Enrique; Vicente-Garcia, Cristina; Mirra, Serena; Burguera, Demian; Fernandez-Castillo, Noelia; Ferran, Jose Luis; Lopez-Mayorga, Macarena; Alaiz-Noya, Marta; Suarez-Pereira, Irene; Anton-Galindo, Ester; Ulloa, Fausto; Herrera-Ubeda, Carlos; Cusco, Pol; Falcon-Moya, Rafael; Rodriguez-Moreno, Antonio; D'Aniello, Salvatore; Cormand, Bru; Marfany, Gemma; Soriano, Eduardo; Carrion, Angel M.; Carvajal, Jaime J.; Garcia-Fernandez, Jordi 分享 收藏 A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype由CRISPR-Cas9产生的新的Cerkl小鼠模型显示进行性视网膜变性和改变的形态和电生理表型Domenech, Elena B.; Andres, Rosa; Jose Lopez-Iniesta, M.; Mirra, Serena; Garcia-Arroyo, Rocio; Milla, Santiago; Sava, Florentina; Andilla, Jordi; Loza-Alvarez, Pablo; de la Villa, Pedro; Gonzalez-Duarte, Roser; Marfany, Gemma 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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