Virginia Nunes
Affiliations: | University of Barcelona, Barcelona, Cataluña, Spain |
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"Virginia Nunes"
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Publications
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Sánchez A, García-Lareu B, Puig M, et al. (2020) Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencephalopathy. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics |
Knöpfel EB, Vilches C, Camargo SMR, et al. (2019) Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans. Frontiers in Physiology. 10: 688 |
Espino Gaurch M, Font-Llitjós M, Murillo-Cuesta S, et al. (2018) Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in Age-Related Hearing Loss. Elife. 7 |
Estévez R, Elorza-Vidal X, Gaitán-Peñas H, et al. (2017) Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective. European Journal of Medical Genetics |
Astuti D, Sabir A, Fulton P, et al. (2017) Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram and Thiamine-responsive megaloblastic anaemia. Human Mutation |
Espino M, Font-Llitjós M, Vilches C, et al. (2015) Digenic Inheritance in Cystinuria Mouse Model. Plos One. 10: e0137277 |
Sirisi S, Folgueira M, López-Hernández T, et al. (2014) Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. Human Molecular Genetics. 23: 5069-86 |
García-Cazorla A, Oyarzabal A, Fort J, et al. (2014) Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Human Mutation. 35: 470-7 |
Di Giacopo A, Rubio-Aliaga I, Cantone A, et al. (2013) Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice. American Journal of Physiology. Renal Physiology. 305: F1645-55 |
Capdevila-Nortes X, López-Hernández T, Apaja PM, et al. (2013) Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents. Human Molecular Genetics. 22: 4405-16 |