Regulator of calcineurin 1 (Rcan1) has a protective role in brain ischemia/reperfusion injury
Sobrado, Mónica, Ramirez, Belén G, Neria, Fernando, Lizasoain, Ignacio, Arbones, Maria Lourdes, Minami, Takashi, Redondo, Juan Miguel, Moro, María Angeles, Cano, Eva
Published in Journal of neuroinflammation (07.03.2012)
Published in Journal of neuroinflammation (07.03.2012)
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Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis
Feliubadaló, Lídia, Arbonés, María Lourdes, Mañas, Sandra, Chillarón, Josep, Visa, Joana, Rodés, Margot, Rousaud, Ferran, Zorzano, Antonio, Palacín, Manuel, Nunes, Virginia
Published in Human molecular genetics (01.09.2003)
Published in Human molecular genetics (01.09.2003)
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Journal Article
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
López-Bigas, Núria, Melchionda, Salvatore, Gasparini, Paolo, Borragán, Alfonso, Arbonés, Maria Lourdes, Estivill, Xavier
Published in Human mutation (01.04.2002)
Published in Human mutation (01.04.2002)
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Journal Article
Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model
Mateu-Bosch, Anna, Segur-Bailach, Eulàlia, Muñoz-Moreno, Emma, Barallobre, María José, Arbonés, Maria Lourdes, Gea-Sorlí, Sabrina, Tort, Frederic, Ribes, Antonia, García-Villoria, Judit, Fillat, Cristina
Published in Molecular therapy. Methods & clinical development (12.09.2024)
Published in Molecular therapy. Methods & clinical development (12.09.2024)
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Journal Article
MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss
Melchionda, Salvatore, Ahituv, Nadav, Bisceglia, Luigi, Sobe, Tama, Glaser, Fabian, Rabionet, Raquel, Arbones, Maria Lourdes, Notarangelo, Angelo, Di Iorio, Enzo, Carella, Massimo, Zelante, Leopoldo, Estivill, Xavier, Avraham, Karen B., Gasparini, Paolo
Published in American journal of human genetics (01.09.2001)
Published in American journal of human genetics (01.09.2001)
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Journal Article
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene
López-Bigas, Núria, Rabionet, Raquel, Martínez, Elisabeth, Banchs, Isabel, Volpini, Víctor, Vance, Jeffery M., Arbonés, Maria Lourdes, Estivill, Xavier
Published in Human mutation (01.05.2000)
Published in Human mutation (01.05.2000)
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Journal Article
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
LOPEZ-BIGAS, Nuria, OLIVE, Montserrat, FERRER, Isidre, ARBONES, Maria Lourdes, ESTIVILL, Xavier, RABIONET, Raquel, BEN-DAVID, Orit, MARTINEZ-MATOS, Juan Antonio, BRAVO, Olga, BANCHS, Isabel, VOLPINI, Victor, GASPARINI, Paolo, AVRAHAM, Karen B
Published in Human molecular genetics (15.04.2001)
Published in Human molecular genetics (15.04.2001)
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Journal Article
A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family
Rabionet, Raquel, Morales-Peralta, Estela, López-Bigas, Núria, Arbonés, Maria Lourdes, Estivill, Xavier
Published in Genetics and molecular biology (2006)
Published in Genetics and molecular biology (2006)
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Journal Article
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression
THÖNNISSEN, Eva, RABIONET, Raquel, ARBONES, Maria Lourdes, ESTIVILL, Xavier, WILLECKE, Klaus, OTT, Thomas
Published in Human genetics (01.08.2002)
Published in Human genetics (01.08.2002)
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Journal Article
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome
López-Bigas, Núria, Rabionet, Raquel, de Cid, Rafael, Govea, Nancy, Gasparini, Paolo, Zelante, Leopoldo, Arbonés, Maria Lourdes, Estivill, Xavier
Published in Human mutation (01.01.1999)
Published in Human mutation (01.01.1999)
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Journal Article
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
WATTENHOFER, Marie, DI IORIO, Mario Vincenzo, D'AMELIO, Marcello, ALWAN, Sura, ROSSIER, Colette, DAHL, Hans-Henrik M, PETERSEN, Michael B, ESTIVILL, Xavier, GASPARINI, Paolo, SCOTT, Hamish S, ANTONARAKIS, Stylianos E, RABIONET, Raquel, DOUGHERTY, Loretta, PAMPANOS, Andreas, SCHWEDE, Torsten, MONTSERRAT-SENTIS, Barbara, ARBONES, Maria Lourdes, ILIADES, Theofilos, PASQUADIBISCEGLIE, Annamaria
Published in Journal of molecular medicine (Berlin, Germany) (01.02.2002)
Published in Journal of molecular medicine (Berlin, Germany) (01.02.2002)
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Journal Article
Connexin mutations in hearing loss, dermatological and neurological disorders
Rabionet, Raquel, López-Bigas, Núria, Arbonès, Maria Lourdes, Estivill, Xavier
Published in Trends in Molecular Medicine (01.05.2002)
Published in Trends in Molecular Medicine (01.05.2002)
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Book Review
Journal Article
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
RABIONET, R, ZELANTE, L, LOPEZ-BIGAS, N, D'AGRUMA, L, MELCHIONDA, S, RESTAGNO, G, ARBONES, M. L, GASPARINI, P, ESTIVILL, X
Published in Human genetics (01.01.2000)
Published in Human genetics (01.01.2000)
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Journal Article
Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome
Arranz, Juan, Balducci, Elisa, Arató, Krisztina, Sánchez-Elexpuru, Gentzane, Najas, Sònia, Parras, Alberto, Rebollo, Elena, Pijuan, Isabel, Erb, Ionas, Verde, Gaetano, Sahun, Ignasi, Barallobre, Maria J., Lucas, José J., Sánchez, Marina P., de la Luna, Susana, Arbonés, Maria L.
Published in Neurobiology of disease (01.07.2019)
Published in Neurobiology of disease (01.07.2019)
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Journal Article
DYRK1A Kinase Positively Regulates Angiogenic Responses in Endothelial Cells
Rozen, Esteban J., Roewenstrunk, Julia, Barallobre, María José, Di Vona, Chiara, Jung, Carole, Figueiredo, Ana F., Luna, Jeroni, Fillat, Cristina, Arbonés, Maria L., Graupera, Mariona, Valverde, Miguel A., de la Luna, Susana
Published in Cell reports (Cambridge) (08.05.2018)
Published in Cell reports (Cambridge) (08.05.2018)
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Journal Article
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families: Mutations in Brief
López-Bigas, Núria, Melchionda, Salvatore, Gasparini, Paolo, Borragán, Alfonso, Arbonés, Maria Lourdes, Estivill, Xavier
Published in Human mutation (01.04.2002)
Published in Human mutation (01.04.2002)
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Journal Article
Characteristics of nitric oxide synthase type I of rat cerebellar astrocytes
Arbonés, Maria Lourdes, Ribera, Joan, Agulló, Luis, Baltrons, Maria Antonia, Casanovas, Anna, Riveros-Moreno, Valentina, García, Agustina
Published in Glia (01.11.1996)
Published in Glia (01.11.1996)
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