HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.

Autor: Roos, Andreas, Häusler, Martin, Kollipara, Laxmikanth, Topf, Ana, Preusse, Corinna, Stucka, Rolf, Nolte, Kay, Strom, Tim, Berutti, Riccardo, Jiang, Xuehui, Koll, Randi, Lochmüller, Hanns, Schacht, Sabine Maria, Zahedi, René P., Weis, Joachim, Senderek, Jan

Publikováno v: Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 5, p1131-1137, 7p

HNRNPA1 de novoVariant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy

Autor: Roos, Andreas, Häusler, Martin, Kollipara, Laxmikanth, Topf, Ana, Preusse, Corinna, Stucka, Rolf, Nolte, Kay, Strom, Tim, Berutti, Riccardo, Jiang, Xuehui, Koll, Randi, Lochmüller, Hanns, Schacht, Sabine Maria, Zahedi, René P., Weis, Joachim, Senderek, Jan

Publikováno v: Journal of Neuromuscular Diseases; September 2024, Vol. 11 Issue: 5 p1131-1137, 7p

Morphology, pathology, and the vertebral posture of the La Chapelle-aux-Saints Neandertal

Autor: Haeusler, Martin, Trinkaus, Erik, Fornai, Cinzia, Müller, Jonas, Bonneau, Noémie, Boeni, Thomas, Frater, Nakita

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2019 Mar 01. 116(11), 4923-4927.

Externí odkaz: https://www.jstor.org/stable/26672188

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy

Autor: Erger, Florian, Aryal, Rajindra P, Reusch, Björn, Matsumoto, Yasuyuki, Meyer, Robert, Zeng, Junwei, Knopp, Cordula, Noel, Maxence, Muerner, Lukas, Wenzel, Andrea, Kohl, Stefan, Tschernoster, Nikolai, Rappl, Gunter, Rouvet, Isabelle, Schröder-Braunstein, Jutta, Seibert, Felix S, Thiele, Holger, Häusler, Martin G, Weber, Lutz T, Büttner-Herold, Maike, Elbracht, Miriam, Cummings, Sandra F, Altmüller, Janine, Habbig, Sandra, Cummings, Richard D, Beck, Bodo B

Publikováno v: Erger, Florian; Aryal, Rajindra P; Reusch, Björn; Matsumoto, Yasuyuki; Meyer, Robert; Zeng, Junwei; Knopp, Cordula; Noel, Maxence; Muerner, Lukas; Wenzel, Andrea; Kohl, Stefan; Tschernoster, Nikolai; Rappl, Gunter; Rouvet, Isabelle; Schröder-Braunstein, Jutta; Seibert, Felix S; Thiele, Holger; Häusler, Martin G; Weber, Lutz T; Büttner-Herold, Maike; ... (2023). Germline C1GALT1C1 mutation causes a multisystem chaperonopathy. Proceedings of the National Academy of Sciences of the United States of America-PNAS, 120(22), e2211087120. National Academy of Sciences 10.1073/pnas.2211087120

Mutations in genes encoding molecular chaperones can lead to chaperonopathies, but none have so far been identified causing congenital disorders of glycosylation. Here we identified two maternal half-brothers with a novel chaperonopathy, causing impa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68310da1da0fe687e966041ec358ebd8
https://doi.org/10.1073/pnas.2211087120