Search Results - Ana Rivera‐Barahona

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    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

    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 by Lorena Gallego‐Villar, Ana Rivera‐Barahona, Carmen Cuevas-Martín, Adam J. Guenzel, Belén Pérez, Michael A. Barry, Michael P. Murphy, Angela Logan, Adrián González-Quintana, Miguel Á. Martín, Sónia Medina, Ángel Gil‐Izquierdo, José M. Cuezva, Eva Richard, Lourdes R. Desviat

    Published 2016
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    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome by Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci‐Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Céline Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta Schlott Kristiansen, Mahmoud Y. Issa, Mennat Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia A. Temtamy, Mona Aglan, Aia Elise Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier‐Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Víctor L. Ruiz‐Pérez

    Published 2020
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