Persones / Equip Humà

Gemma Marfany Nadal

Buscador de publicacions

Publicacions

  • Toulis V, Casaroli-Marano R, Camós-Carreras A, Figueras-Roca M, Sánchez-Dalmau B, Muñoz E, Ashraf NS, Ferreira AF, Khan N, Marfany G and do Carmo Costa M.

    Altered retinal structure and function in Spinocerebellar ataxia type 3

    NEUROBIOLOGY OF DISEASE . 170: 105774-105774. Nº de cites: 5

    [doi:10.1016/j.nbd.2022.105774]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    CLINICAL GENETICS . 101(5-6): 481-493. Nº de cites: 8

    [doi:10.1111/cge.14113]

  • García-Arroyo R, Gavaldà-Navarro A, Villarroya-Gombau F, Marfany G and Mirra S.

    Overexpression of CERKL Protects Retinal Pigment Epithelium Mitochondria from Oxidative Stress Effects.

    ANTIOXIDANTS . 10(12): 2018. Nº de cites: 7

    [doi:10.3390/antiox10122018]

  • Mirra S, Arroyo RG, Domènech EB, Gavaldà-Navarro A, Herrera-Úbeda C, Oliva C, Garcia-Fernàndez J, Artuch-Iriberri R, Villarroya-Gombau F and Marfany G.

    CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina

    NEUROBIOLOGY OF DISEASE . 156: 105405-105405. Nº de cites: 15

    [doi:10.1016/j.nbd.2021.105405]

  • Sánchez-Bellver L, Toulis V and Marfany G.

    On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies.

    Frontiers in Cell and Developmental Biology . 9: 623734-623734. Nº de cites: 12

    [doi:10.3389/fcell.2021.623734]

  • Aísa-Marín I, García-Arroyo R, Mirra S and Marfany G.

    The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(4): 1855. Nº de cites: 18

    [doi:10.3390/ijms22041855]

  • Aísa-Marín I, Lopez MJ, Milla S, Lillo J, Navarro G, de la Villa P and Marfany G.

    Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models.

    NEUROBIOLOGY OF DISEASE . 146: 105122-105122. Nº de cites: 9

    [doi:10.1016/j.nbd.2020.105122]

  • Aísa-Marín I, Lopez MJ and Marfany G.

    Data on the generation of two Nr2e3 mouse models by CRISPR / Cas9D10A nickase.

    Data in brief . 33: 106447-106447. Nº de cites: 2

    [doi:10.1016/j.dib.2020.106447]

  • Toulis V, García-Monclús S, de la Peña-Ramírez C, Arenas-Galnares R, Abril JF, Todi SV, Khan N, Garanto A, Costa MDC and Marfany G.

    The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina.

    CELL REPORTS . 33(6): 108360-108360. Nº de cites: 21

    [doi:10.1016/j.celrep.2020.108360]

  • Navas-Pérez E, Vicente-García C, Mirra S, Burguera D, Fernandez-Castillo N, Ferrán JL, López-Mayorga M, Alaiz-Noya M, Suárez-Pereira I, Antón-Galindo E, Ulloa F, Herrera-Úbeda C, Cuscó P, Falcón-Moya R, Rodríguez-Moreno A, D'Aniello S, Cormand B, Marfany G, Soriano E, Carrión ÁM, Carvajal JJ and Garcia-Fernàndez J.

    Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions.

    Genome Biology . 21(1): 267-267. Nº de cites: 12

    [doi:10.1186/s13059-020-02172-3]