检索结果 - Cannata Serio, Magda

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    Mutations in ATP6AP2 cause autophagic liver disease in humans

    Mutations in ATP6AP2 cause autophagic liver disease in humans 由 Cannata Serio, Magda, Rujano, Maria A., Simons, Matias

    出版 2018
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  2. 2
    Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

    Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects 由 Rujano, Maria A., Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H., Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M., Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J., Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D., Raskind, Wendy H., Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias

    出版 2017
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    Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

    Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease 由 Cannata Serio, Magda, Graham, Laurie A., Ashikov, Angel, Larsen, Lars Elmann, Raymond, Kimiyo, Timal, Sharita, Le Meur, Gwenn, Ryan, Margret, Czarnowska, Elzbieta, Jansen, Jos C., He, Miao, Ficicioglu, Can, Pichurin, Pavel, Hasadsri, Linda, Minassian, Berge, Rugierri, Alessandra, Kalimo, Hannu, Ríos‐Ocampo, W. Alfredo, Gilissen, Christian, Rodenburg, Richard, Jonker, Johan W., Holleboom, Adriaan G., Morava, Eva, Veltman, Joris A., Socha, Piotr, Stevens, Tom H., Simons, Matias, Lefeber, Dirk J.

    出版 2020
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