Browsing by Author Nunes Martínez, Virginia

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Issue DateTitleAuthor(s)
5-May-2020Cerebellar astrocyte transduction as gene therapy for megalencephalic leukoencephalopathySánchez, Ángela; García-Lareu, Belén; Puig, Meritxell; Prat, Esther; Ruberte, Jesús; Chillón, Miguel; Nunes Martínez, Virginia; Estevez, Raúl; Bosch, Assumpció
12-May-2014Cerebral cortex hyperthyroidism of newborn Mct8-deficient mice transiently suppressed by Lat2 inactivationNuñez, Bárbara; Martínez de Mena, Raquel; Obregón, Maria Jesús; Font i Llitjós, Mariona; Nunes Martínez, Virginia; Palacín Prieto, Manuel; Dumitrescu, Alexandra M.; Morte, Beatriz; Bernal, Juan
11-Feb-2020Choroid plexus LAT2 and SNAT3 as partners in CSF amino acid homeostasis maintenanceDolgodilina, Elena; Camargo, Simone M.; Roth, Eva; Herzog, Brigitte; Nunes Martínez, Virginia; Palacín Prieto, Manuel; Verrey, Francois
21-Nov-2019Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unitPérez Rius, Carla; Folgueira, Mónica; Elorza Vidal, Xabier; Alia, Alia; Hoegg-Beiler, Maja B.; Eeza, Muhamed N.H.; Díaz, María Luz; Nunes Martínez, Virginia; Barrallo-Gimeno, Alejandro; Estévez Povedano, Raúl
26-Feb-2019Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restrictionMonteagudo Sánchez, Ana; Sánchez Delgado, Marta; Hernandez Mora, Jose Ramon; Tubío Santamaría, Nuria; Gratacós Solsona, Eduard; Esteller, Manel; López de Heredia, Miguel; Nunes Martínez, Virginia; Choux, Cecile; Fauque, Patricia; Perez de Nanclares, Guiomar; Anton, Lauren; Elovitz, Michal A.; Iglesias Platas, Isabel; Monk, David
11-Sep-2015Digenic inheritance in cystinuria mouse modelEspino Gaurch, Meritxell; Font i Llitjós, Mariona; Vilches, Clara; Salido, Eduardo; Prat, Esther; López de Heredia, Miguel; Palacín Prieto, Manuel; Nunes Martínez, Virginia
2014Disrupting MLC1 and GlialCAM and ClC-2interactions in leukodystrophy entails glial chloridechannel dysfunctionHoegg-Beiler, Maja B.; Sirisi Dolcet, Sònia; Orozco, Ian J.; Ferrer, Isidro (Ferrer Abizanda); Hohensee, Svea; Auberson, Muriel; Gödde, Kathrin; Vilches, Clara; López de Heredia, Miguel; Nunes Martínez, Virginia; Estévez Povedano, Raúl; Jentsch, Thomas J.
4-Jun-2019Dysfunctional LAT2 amino acid transporter is associated with cataract in mouse and humansKnöpfel, Emilia Boiadjieva; Vilches, Clara; Camargo, Simone M.; Errasti-Murugarren, Ekaitz; Stäubli, Andrina; Mayayo, Clara; Munier, Francis L.; Miroshnikova, Nataliya; Poncet, Nadège; Junza Martínez, Alexandra; Bhattacharya, Shomi S.; Prat, Esther; Berry, Vanita; Berger, Wolfgang; Heon, Elise; Moore, Anthony T.; Yanes, Oscar; Nunes Martínez, Virginia; Palacín Prieto, Manuel; Verrey, François; Kloeckener-Gruissem, Barbara
2000Errors congènits del metabolisme (ECM).Pàmpols i Ros, Teresa; Arranz, J. A.; Artuch Iriberri, Rafael; Baiget Bastús, Montserrat; Borja, F.; Briones, P.; Casals, T.; Chabás, A.; Coll, M. J.; Rio, E. del; Domínguez, C.; Estivill, Xavier, 1955-; Gallano, Pia; Giròs, Marisa; Martínez, M.; Maya, A.; Milà i Recasens, Montserrat; Margarit, E.; Nunes Martínez, Virginia; Oriola Ambrós, Josep
19-Feb-2013Estudi de variants de significat desconegut en la síndrome de LynchBorràs Flores, Ester
27-Aug-2013EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndromeFarmer, Amy; Aymé, Ségolène; López de Heredia, Miguel; Maffei, Pietro; McCafferty, Susan; Młynarski, Wojciech; Nunes Martínez, Virginia; Parkinson, Kay; Paquis-Flucklinger, Véronique; Rohayem, Julia; Sinnott, Richard; Tillmann, Vallo; Tranebjærg, Lisbeth; Barrett, Timothy G.
16-Aug-2001¿Existe correlación entre la enfermedad de Alzheimer y defectos en el ADN mitocondrial?Rodríguez Santiago, Benjamín; Casademont i Pou, Jordi; Nunes Martínez, Virginia
5-Dec-2023Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort StudyGràcia-Garcia, Silvia; Mayayo Vallverdú, Clara; Prat, Esther; Vecino-Pérez, Marta; González, Laura; San Miguel, Luz; Lopera, Noelia; Arias, Ángela; Artuch, Rafael; López de Heredia, Miguel; Torrecilla, Carlos; Rousaud-Barón, Ferran; Angerri, Oriol; Errasti-Murugarren, Ekaitz; Nunes Martínez, Virginia
15-Jul-1993Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytesBertran, Joan; Werner, Andreas; Chillarón Chaves, José Julio; Nunes Martínez, Virginia; Biber, Jürg; Testar, Xavier; Zorzano Olarte, Antonio; Estivill, Xavier, 1955-; Murer, Heini; Palacín Prieto, Manuel
11-Jan-2008Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibilitySolé Acha, Xavier; Hernández, Pilar; López de Heredia, Miguel; Armengol, Lluís; Rodríguez Santiago, Benjamín; Gómez, Laia; Maxwell, Christopher A.; Aguiló Lúcia, Fernando; Condom i Mundó, Enric; Abril, Jesús; Pérez Jurado, Luis; Estivill, Xavier, 1955-; Nunes Martínez, Virginia; Capellá, G. (Gabriel); Gruber, Stephen B.; Moreno Aguado, Víctor; Pujana Genestar, M. Ángel
21-Feb-2013Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotypeLópez de Heredia, Miguel; Clèries Soler, Ramon; Nunes Martínez, Virginia
29-Nov-2021Identification and characterization of cystinuria modulating genes: L-Ergothioneine as a potential treatment for preventing cystine lithiasisMayayo Vallverdú, Clara
7-Jun-2021Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteinsAlonso Gardón, Marta; Elorza Vidal, Xabier; Castellanos, Aida; La Sala, Gina; Armand-Ugón, Mercedes; Gilbert, Alice; Di Pietro, Chiara; Pla Casillanis, Adrià; Ciruela, Francisco; Gasull, Xavier; Nunes Martínez, Virginia; Martínez, Albert; Schulte, Uwe; Cohen Salmon, Martine; Marazziti, Daniela; Estévez, Raúl
1-Jul-2011Knockdown of Mlc1 in Primary Astrocytes Causes Cell Vacuolation: A Mlc Disease Cell ModelDuarri, Anna; López de Heredia, Miguel; Capdevila Nortes, Xavier; Ridder, Margreet C.; Montolio, Marisol; López Hernández, Tania; Boor, Ilja; Lien, Chun-Fu; Hagemann, Tracy; Messing, Albee; Gorecki, Dariusz C.; Scheper, Gert C.; Martinez, Albert; Nunes Martínez, Virginia; Van der Knaap, Marjo S.; Estévez Povedano, Raúl
1-Jan-2018Megalencephalic leukoencephalopathy with subcortical cysts: a personal biochemical retrospectiveEstévez Povedano, Raúl; Elorza Vidal, Xabier; Gaitán-Peñas, Héctor; Pérez Rius, Carla; Armand-Ugón, Mercedes; Alonso Gardón, Marta; Xicoy Espaulella, Efren; Sirisi Dolcet, Sònia; Arnedo Llena, Tanit; Capdevila Nortes, Xavier; Lopez-Hernandez, Tania; Montolio, Marisol; Duarri, Anna; Teijido, Oscar; Barrallo-Gimeno, Alejandro; Palacín Prieto, Manuel; Nunes Martínez, Virginia