Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
closedAccess | | jun-2009 | A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies | Khanna, Hemant; Davis, Erica E.; Murga-Zamalloa, Carlos A.; Estrada, Alejandro; López, Irma; Hollander, Anneke I. den; Zonneveld, Marijke N.; Othman, Mohammad I.; Waseem, Naushin; Chakarova, Christina; Maubaret, Cecilia; Diaz-Font, Anna; MacDonald, Ian; Muzny, Donna M.; Wheeler, David A.; Morgan, Margaret; Lewis, Lora R.; Logan, Clare V.; Tan, Perciliz L.; Beer, Michael A.; Inglehearn, Christopher F.; Lewis, Richard A.; Jacobson, Samuel G.; Bergmann, Carsten; Beales, Philip L.; Attié-Bitach, Tania; Johnson, Colin A.; Otto, Edgar A.; Bhattacharya, Shom Shanker CSIC ORCID; Hildebrandt, Friedhelm; Gibbs, Richard A.; Koenekoop, Robert K.; Swaroop, Anand; Katsanis, Nicholas | artículo |
openAccess | | 30-mar-2011 | A novel locus for autosomal dominant cone-rod dystrophy in a family of gypsy origin | Romero-Durán, Margarita CSIC; Kamenarova, Kunka; Cherninkova, Sylvia; Krishna, Abhay CSIC; Prescott, Quincy; Valdés-Sánchez, María Lourdes; Kaneva, Radka; Kremensky, Ivo; Chakarova, Christina; Tournev, Ivailo; Bhattacharya, Shom Shanker CSIC ORCID | póster de congreso |
closedAccess | | 29-ago-2012 | A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q | Kamenarova, Kunka; Romero-Durán, Margarita CSIC; Valdés-Sánchez, María Lourdes; Bhattacharya, Shom Shanker CSIC ORCID; Chakarova, Christina | artículo |
closedAccess | | 7-ene-2013 | ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice. | Valdés-Sánchez, María Lourdes; Cerda, Berta de la CSIC ORCID; Díaz-Corrales, Francisco J. CSIC ORCID; Massalini, Simone CSIC; Chakarova, Christina; Wright, Alan F.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
closedAccess | | 2008 | Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance | Václavík, Veronika; Chakarova, Christina; Bhattacharya, Shom Shanker CSIC ORCID; Robson, A. G.; Holder, Graham E.; Bird, Alan C.; Webster, Andrew R. | carta al director |
closedAccess | | 18-abr-2008 | Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31 | Wilkie, Susan E.; Václavík, Veronika; Wu, Huimin; Bujakowska, Kinga; Chakarova, Christina; Bhattacharya, Shom Shanker CSIC ORCID; Warren, Martin J.; Hunt, David M. | artículo |
closedAccess | | 5-oct-2008 | EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa | Abd El-Aziz, Mai M.; Barragán, Isabel; O'Driscoll, Ciara A.; Goodstadt, Leo; Prigmore, Elena; Borrego, Salud CSIC ORCID; Mena, Marcela CSIC; Pieras, Juan Ignacio; El-Ashry, Mohamed F.; Abu Safieh, Leen; Shah, Amna; Cheetham, Michael E.; Carter, Nigel P.; Chakarova, Christina; Ponting, Chris P.; Bhattacharya, Shom Shanker CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 2013 | Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients | Kamenarova, Kunka; Cortón, Marta; García-Sandoval, Blanca; Fernández-San José, Patricia; Panchev, Valentín; Ávila-Fernández, Almudena; López-Molina, María Isabel; Chakarova, Christina; Ayuso, Carmen; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
openAccess | | 31-dic-2019 | Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins | Valdés-Sánchez, María Lourdes; Calado, Sofia M. CSIC ORCID; Cerda, Berta de la CSIC ORCID; Aramburu del Boz, Ana CSIC; García-Delgado, Ana B. CSIC; Massalini, Simone CSIC; Montero-Sánchez, Adoración CSIC; Bhatia, Vaibhav CSIC ORCID; Rodríguez-Bocanegra, Eduardo CSIC; Díez-Lloret, Andrea CSIC; Rodriguez-Martinez, Daniel; Chakarova, Christina; Bhattacharya, Shom Shanker CSIC ORCID; Díaz-Corrales, Francisco J. CSIC ORCID | artículo |
openAccess | | 2016 | TOPORS, a dual E3 ubiquitin and Sumo1 ligase, interacts with 26 S protease regulatory subunit 4, encoded by the PSMC1 gene | Czub, Barbara; Shah, Amna Z.; Alfano, Giovanna; Kruczek, P.M.; Chakarova, Christina; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
closedAccess | | 1-mar-2011 | TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein | Chakarova, Christina; Ríos, Rosa M. CSIC ORCID; Bhattacharya, Shom Shanker CSIC ORCID | artículo |