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Mariona Font-Llitjós

Showing results (1-10 of 10) with videos related to

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Nature Reviews. Nephrology|June 3, 2010
Pathophysiology and treatment of cystinuriaJosep Chillarón, Mariona Font-Llitjós, Joana Fort, et al.
Plos One|September 12, 2015
Digenic Inheritance in Cystinuria Mouse ModelMeritxell Espino, Mariona Font-Llitjós, Clara Vilches, et al.
Physiology (Bethesda, Md.)|March 18, 2005
The genetics of heteromeric amino acid transportersManuel Palacín, Virginia Nunes, Mariona Font-Llitjós, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeatMariona Font-Llitjós, Benjamín Rodríguez-Santiago, Meritxell Espino, et al.
Plos One|May 14, 2014
Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivationBárbara Núñez, Raquel Martínez de Mena, Maria Jesus Obregon, et al.
American Journal of Physiology. Renal Physiology|June 29, 2007
Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studiesMariona Font-Llitjós, Lídia Feliubadaló, Meritxell Espino, et al.
Molecular Genetics and Metabolism|February 14, 2012
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intoleranceAmelia Barilli, Bianca Maria Rotoli, Rossana Visigalli, et al.
American Journal of Physiology. Renal Physiology|October 11, 2013
Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in miceAndrea Di Giacopo, Isabel Rubio-Aliaga, Alessandra Cantone, et al.
Elife|January 23, 2018
Mutations in L-type amino acid transporter-2 support <i>SLC7A8</i> as a novel gene involved in age-related hearing lossMeritxell Espino Guarch, Mariona Font-Llitjós, Silvia Murillo-Cuesta, et al.
Human Mutation|January 23, 2014
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patientsAngels García-Cazorla, Alfonso Oyarzabal, Joana Fort, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Nature Reviews. Nephrology|June 3, 2010
Pathophysiology and treatment of cystinuriaJosep Chillarón, Mariona Font-Llitjós, Joana Fort, et al.
Plos One|September 12, 2015
Digenic Inheritance in Cystinuria Mouse ModelMeritxell Espino, Mariona Font-Llitjós, Clara Vilches, et al.
Physiology (Bethesda, Md.)|March 18, 2005
The genetics of heteromeric amino acid transportersManuel Palacín, Virginia Nunes, Mariona Font-Llitjós, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeatMariona Font-Llitjós, Benjamín Rodríguez-Santiago, Meritxell Espino, et al.
Plos One|May 14, 2014
Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivationBárbara Núñez, Raquel Martínez de Mena, Maria Jesus Obregon, et al.
American Journal of Physiology. Renal Physiology|June 29, 2007
Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studiesMariona Font-Llitjós, Lídia Feliubadaló, Meritxell Espino, et al.
Molecular Genetics and Metabolism|February 14, 2012
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intoleranceAmelia Barilli, Bianca Maria Rotoli, Rossana Visigalli, et al.
American Journal of Physiology. Renal Physiology|October 11, 2013
Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in miceAndrea Di Giacopo, Isabel Rubio-Aliaga, Alessandra Cantone, et al.
Elife|January 23, 2018
Mutations in L-type amino acid transporter-2 support <i>SLC7A8</i> as a novel gene involved in age-related hearing lossMeritxell Espino Guarch, Mariona Font-Llitjós, Silvia Murillo-Cuesta, et al.
Human Mutation|January 23, 2014
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patientsAngels García-Cazorla, Alfonso Oyarzabal, Joana Fort, et al.
Pageof 1