A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.
Nicolas G, Sévigny M, Lecoquierre F, Marguet F, Deschênes A, Del Pelaez MC, Feuillette S, Audebrand A, Lecourtois M, Rousseau S, Richard AC, Cassinari K, Deramecourt V, Duyckaerts C, Boland A, Deleuze JF, Meyer V, Clarimon Echavarria J, Gelpi E, Akiyama H, Hasegawa M, Kawakami I, Wong TH, Van Rooij JGJ, Van Swieten JC, Campion D, Dutchak PA, Wallon D, Lavoie-Cardinal F, Laquerrière A, Rovelet-Lecrux A, Sephton CF.
Nicolas G, et al. Among authors: sephton cf.
Acta Neuropathol Commun. 2022 Feb 12;10(1):20. doi: 10.1186/s40478-022-01314-x.
Acta Neuropathol Commun. 2022.
PMID: 35151370
Free PMC article.