Browsing by Author Nunes Martínez, Virginia

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Showing results 26 to 42 of 42 < previous 
Issue DateTitleAuthor(s)
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
11-Apr-1991Mspl restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene.Bosch, A.; Kruyer, H.; Nunes Martínez, Virginia; Estivill, Xavier, 1955-
5-Jul-1990Mutation analysis in cystic fibrosisGasparini, Paolo; Pignatti, P. F.; Novelli, Giuseppe; Dallapiccola, B.; Nunes Martínez, Virginia; Casals, T.; Estivill, Xavier, 1955-; Fernández Muñoz, Esteve; Balassopoulou, A.; Loukopoulos, D.; Lavinha, J.; Simova, L.; Komel, R.
22-Jan-2018Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in Age-Related Hearing Loss.Espino Gaurch, Meritxell; Font i Llitjós, Mariona; Murillo-Cuesta, Silvia; Errasti-Murugarren, Ekaitz; Celaya, Adelaida M.; Girotto, Giorgia; Vuckovic, Dragana; Mezzavilla, Massimo; Vilches, Clara; Bodoy i Salvans, Susanna; Sahún, Ignasi; González, Laura; Prat, Esther; Zorzano Olarte, Antonio; Dierssen, Mara; Varela-Nieto, Isabel; Gasparini, Paolo; Palacín Prieto, Manuel; Nunes Martínez, Virginia
1-Jun-1995Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferensChillón, Miguel; Casals, T.; Mercier, Bernard; Bassas, Lluís; Lissens, Willy; Silber, Sherman; Romey, Marie Catherine; Ruiz Romero, Javier; Verlingue, Claudine; Claustres, Mireille; Nunes Martínez, Virginia; Férec, Claude; Estivill, Xavier, 1955-
1996A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.Barrientos Rubio, Antoni; Volpini Bertrán, Víctor; Casademont i Pou, Jordi; Genís, David; Manzanares, Josep-Maria; Ferrer, Isidro (Ferrer Abizanda); Corral, Jordi; Cardellach, Francesc; Urbano Márquez, A. (Álvaro); Estivill, Xavier, 1955-; Nunes Martínez, Virginia
25-Aug-1990PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutationNunes Martínez, Virginia; Chillón, Miguel; Lench, N.; Ramsay, M.; Estivill, Xavier, 1955-
24-Feb-2005Reabsorció renal d'aminoàcids: anàlisi de mutacions de SLC7A9, el gen de cistinúria de tipus B, i generació d'un model murí "knockout" de Slc7a8Font i Llitjós, Mariona
18-Aug-2000Respiratory chain dysfunction associated with multiple mitochondrial DNA deletions in antiretroviral therapy-related lipodystrophy.Miró i Andreu, Òscar; Gómez, Montserrat; Pedrol, Enric; Cardellach, Francesc; Nunes Martínez, Virginia; Casademont i Pou, Jordi
Nov-2003Reversible mitochondrial respiratory chain impairment during symptomatic hyperlactatemia associated with antiretroviral therapyMiró i Andreu, Òscar; López Moreno, Sònia; Martínez, Esteban; Rodríguez Santiago, Benjamín; Blanco, José L.; Milinkovic, Ana; Miró Meda, José M.; Nunes Martínez, Virginia; Casademont i Pou, Jordi; Gatell, José M.; Cardellach, Francesc
11-Mar-1990Scrfl restriction fragment length polymorphism at the D7S23 locus (probe pKM.19), closely linked to cystic fibrosisNunes Martínez, Virginia; Ramsay, M.; Casals, T.; Chillón, Miguel; Lench, N.; Schwartz, Myron; Estivill, Xavier, 1955-
22-Nov-1991SSCP-polymorphism in intron 12 of the CFTR gene recognized by BclIChillón, Miguel; Nunes Martínez, Virginia; Estivill, Xavier, 1955-
1-Aug-2023The antioxidant l-ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuriaMayayo Vallverdú, Clara; López de Heredia, Miguel; Prat, Esther; González, Laura; Espino-Guarch, Meritxell; Vilches, Clara; Muñoz, Lourdes; Asensi, Miguel A.; Serra, Carmen; Llebaria Soldevila, Amadeu; Casado, Mercedes; Artuch Iriberri, Rafael; Garrabou Tornos, Glòria; Garcia Roves, Pablo M.; Pallardó, Federico V.; Nunes Martínez, Virginia
3-May-1996The rBAT gene is responsible for L-cystine uptake via the b0,(+)-like amino acid transport system in a 'renal proximal tubular' cell line (OK cells)Mora, Conchi; Chillarón Chaves, José Julio; Calonge, María Julia; Forgo, Judith; Testar, Xavier; Nunes Martínez, Virginia; Murer, Heini; Zorzano Olarte, Antonio; Palacín Prieto, Manuel
19-Mar-2004Thiol modification of cysteine 327 in the eighth transmembrane domain of the light subunit xCT of the heteromeric cystine/glutamate antiporter suggests close proximity to the substrate binding site/permeation pathwayJiménez Vidal, Maite; Gasol Escuer, Emma; Zorzano Olarte, Antonio; Nunes Martínez, Virginia; Palacín Prieto, Manuel; Chillarón Chaves, José Julio
28-Jan-2005Transportadores heterométricos de aminoácidos: análisis mutacional de rBAT en cistinuria y estudios de relación estructura-funciónJiménez Vidal, Maite