Rivera Barahona, Ana ana.rivera@uam.es

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

  • Horn D
  • Fernández-Núñez E
  • Gomez-Carmona R
  • Rivera-Barahona A
  • Nevado J
  • Schwartzmann S
  • Ehmke N
  • Lapunzina P
  • Otaify GA
  • Temtamy S
  • Aglan M
  • Boschann F
  • Ruiz-Perez VL
... Ver más Contraer

Genetics In Medicine (p. 679-688) - 1/4/2021

10.1038/s41436-020-01052-2 Ver en origen

  • ISSN 10983600

Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy

  • Fulgencio-Covián A
  • Alonso-Barroso E
  • Guenzel AJ
  • Rivera-Barahona A
  • Ugarte M
  • Pérez B
  • Barry MA
  • Pérez-Cerdá C
  • Richard E
  • Desviat LR
... Ver más Contraer

Translational Research (p. 43-56) - 1/4/2020

10.1016/j.trsl.2019.12.004 Ver en origen

  • ISSN 19315244

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

  • Palencia-Campos A
  • Aoto PC
  • Machal EMF
  • Rivera-Barahona A
  • Soto-Bielicka P
  • Bertinetti D
  • Baker B
  • Vu L
  • Piceci-Sparascio F
  • Torrente I
  • Boudin E
  • Peeters S
  • Van Hul W
  • Huber C
  • Bonneau D
  • Hildebrand MS
  • Coleman M
  • Bahlo M
  • Bennett MF
  • Schneider AL
  • Scheffer IE
  • Kibæk M
  • Kristiansen BS
  • Issa MY
  • Mehrez MI
  • Ismail S
  • Tenorio J
  • Li G
  • Skålhegg BS
  • Otaify GA
  • Temtamy S
  • Aglan M
  • Jønch AE
  • De Luca A
  • Mortier G
  • Cormier-Daire V
  • Ziegler A
  • Wallis M
  • Lapunzina P
  • Herberg FW
... Ver más Contraer

American Journal Of Human Genetics (p. 977-988) - 5/11/2020

10.1016/j.ajhg.2020.09.005 Ver en origen

  • ISSN 00029297

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations

  • Rivera-Barahona A
  • Navarrete R
  • García-Rodríguez R
  • Richard E
  • Ugarte M
  • Pérez-Cerda C
  • Pérez B
  • Gámez A
  • Desviat L
... Ver más Contraer

Molecular Genetics And Metabolism (p. 266-275) - 1/11/2018

10.1016/j.ymgme.2018.09.008 Ver en origen

  • ISSN 10967192

Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria

  • Richard, Eva
  • Gallego-Villar, Lorena
  • Rivera-Barahona, Ana
  • Oyarzabal, Alfonso
  • Perez, Belen
  • Rodriguez-Pombo, Pilar
  • Desviat, Lourdes R.;
... Ver más Contraer

Oxidative Medicine And Cellular Longevity - 1/1/2018

10.1155/2018/1246069 Ver en origen

  • ISSN 19420900

Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia

  • Rivera-Barahona A
  • Alonso-Barroso E
  • Pérez B
  • Murphy M
  • Richard E
  • Desviat L

Molecular Genetics And Metabolism (p. 43-50) - 1/9/2017

10.1016/j.ymgme.2017.07.009 Ver en origen

  • ISSN 10967192

Role of miRNAs in human disease and inborn errors of metabolism

  • Rivera-Barahona A
  • Pérez B
  • Richard E
  • Desviat LR

Journal Of Inherited Metabolic Disease (p. 471-480) - 1/7/2017

10.1007/s10545-017-0018-6 Ver en origen

  • ISSN 01418955

Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia.

  • Rivera-Barahona A, Fulgencio-Covián A, Pérez-Cerdá C, Ramos R, Barry MA, Ugarte M, Pérez B, Richard E, Desviat LR

Scientific Reports - 1/12/2017

10.1038/s41598-017-06420-8

  • ISSN 20452322
  • iMarina

In Vivo Evidence of Mitochondrial Dysfunction and Altered Redox Homeostasis in a Genetic Mouse Model of Propionic Acidemia: Implications for The Pathophysiology of this Disorder

  • Gallego-Villar L, Rivera-Barahona A, Cuevas-Martín C, Guenzel A, Pérez B, Barry MA, Murphy MP, Logan A, Gonzalez-Quintana A, Martín MA, Medina S, Gil-Izquierdo A, Cuezva JM, Richard E, Desviat LR

Free Radical Biology And Medicine (p. 1-12) - 1/7/2016

10.1016/j.freeradbiomed.2016.04.007 Ver en origen

  • ISSN 08915849

In situ monitoring the optical properties of dielectric materials during ion irradiation

  • Pena-Rodriguez, O.
  • Crespillo, M. L.
  • Diaz-Nunez, P.
  • Perlado, J. M.
  • Rivera, A.
  • Olivares, J.;

Optical Materials Express (p. 734-742) - 1/3/2016

10.1364/ome.6.000734 Ver en origen

  • ISSN 21593930

Este/a investigador/a no tiene libros.

Este/a investigador/a no tiene capítulos de libro.

Ionoluminescence induced by swift heavy ions in silica and quartz: A comparative analysis

  • Agullo Lopez, Fernando
  • Jimenez-Rey, D
  • Pena-Rodriguez, O
  • Manzano-Santamaria, J
  • Olivares, J
  • Munoz-Martin, A
  • Rivera, A
... Ver más Contraer

Nuclear Instruments & Methods In Physics Research Section B-Beam Interactions With Materials And Atoms (p. 282-286) - 1/9/2012

10.1016/j.nimb.2011.12.025 Ver en origen

  • ISSN 0168583X

Este/a investigador/a no tiene documentos de trabajo.

Este/a investigador/a no tiene informes técnicos.

Cardiomyocytes derived from induced pluripotent stem cells as a new model for therapy development in propionic acidemia

  • Richard Rodriguez, Eva Maria

Ejecución: 14-02-2019 - 15-03-2020

  • iMarina

Este/a investigador/a no tiene tesis dirigidas.

Este/a investigador/a no tiene patentes o licencias de software.

Última actualización de los datos: 12/05/22 12:32