EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

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EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

Author: Laugwitz, Lucia; Buchert, Rebecca; Olguin, Patricio; Estiar, Mehrdad A.; Atanasova, Mihaela; Marques, Wilson, Jr.; Enssle, Joerg; Marsden, Brian; Aviles, Javiera; Gonzalez-Gutierrez, Andres; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J.; Diebold, Uta; Mueller, Amelie J.; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uira Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A.; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Kraegeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S.; Gan-Or, Ziv; Hack, Tobias B.
Tübinger Autor(en):
Laugwitz, Lucia
Buchert, Rebecca
Morlot, Susanne
Peralta, Susana
Groh, Alisa
Schillinger, Carmen
Sofan, Linda
Sturm, Marc
Bender, Benjamin
Müller, Amelie Johanna
Fuchs, Maren
Rosewich, Hendrik
Enssle, Jörg
Kuehn, Carolin
Gröschel, Samuel
Krägeloh-Mann, Ingeborg
Rieß, Olaf
Haack, Tobias
Published in: American Journal of Human Genetics (2025), Bd. 112, H. 1, S. 168-180
Verlagsangabe: Cambridge : Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2024.12.001
ISSN: 0002-9297
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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