A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.

Autor: Nicolas, Gaël1 (AUTHOR), Sévigny, Myriam2,3 (AUTHOR), Lecoquierre, François1 (AUTHOR), Marguet, Florent4 (AUTHOR), Deschênes, Andréanne2,3,5 (AUTHOR), del Pelaez, Maria Carment2,3 (AUTHOR), Feuillette, Sébastien1 (AUTHOR), Audebrand, Anaïs2,3 (AUTHOR), Lecourtois, Magalie1 (AUTHOR), Rousseau, Stéphane1 (AUTHOR), Richard, Anne-Claire1 (AUTHOR), Cassinari, Kévin1 (AUTHOR), Deramecourt, Vincent6,7 (AUTHOR), Duyckaerts, Charles8,9 (AUTHOR), Boland, Anne10 (AUTHOR), Deleuze, Jean-François10 (AUTHOR), Meyer, Vincent10 (AUTHOR), Clarimon Echavarria, Jordi11,12 (AUTHOR), Gelpi, Ellen13,14 (AUTHOR), Akiyama, Haruhiko15 (AUTHOR)
Zdroj: Acta Neuropathologica Communications. 2/12/2022, Vol. 10 Issue 1, p1-18. 18p.
Databáze: Academic Search Ultimate
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