Gemma Marfany i Nadal

Universitat de Barcelona, Barcelona, Cataluña, Spain 
"Gemma Marfany i Nadal"
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B Domènech E, Marfany G. (2020) The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal Dystrophies. Antioxidants (Basel, Switzerland). 9
Toulis V, Marfany G. (2020) By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System. Advances in Experimental Medicine and Biology. 1233: 303-310
Toulis V, Cortés-González V, Castro-Miró M, et al. (2020) Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. Genes. 11
Mirra S, Marfany G. (2019) Mitochondrial Gymnastics in Retinal Cells: A Resilience Mechanism Against Oxidative Stress and Neurodegeneration. Advances in Experimental Medicine and Biology. 1185: 513-517
Gonzàlez-Duarte R, de Castro-Miró M, Tuson M, et al. (2019) Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies. Advances in Experimental Medicine and Biology. 1185: 215-219
Esquerdo-Barragán M, Brooks MJ, Toulis V, et al. (2019) Expression of deubiquitinating enzyme genes in the developing mammal retina. Molecular Vision. 25: 800-813
Mirra S, Marfany G, Garcia-Fernàndez J. (2019) Under pressure: Cerebrospinal fluid contribution to the physiological homeostasis of the eye. Seminars in Cell & Developmental Biology
Arenas-Galnares R, Castillo-Lara S, Toulis V, et al. (2019) RPGeNet v2.0: expanding the universe of retinal disease gene interactions network. Database : the Journal of Biological Databases and Curation. 2019
Valero R, de Castro-Miró M, Jiménez-Ochoa S, et al. (2019) Aberrant Splicing Events Associated to Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1. Genes. 10
Bolinches-Amorós A, León M, Del Buey Furió V, et al. (2019) Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling. Stem Cell Research. 38: 101455
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