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

Published on 2 October 2023
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
Description
 
Date de publication 
Auteurs
Nicolas G, Sevigny M, Lecoquierre F, Marguet F, Deschenes 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, Laquerriere A, Rovelet-Lecrux A and Sephton CF
Revue
Année2,022
Département / Service
CNRGH
Laboratoire
LBanq, LBInf
Impact Factor7.8
InstitutJACOB
url DOI10.1186/s40478-022-01314-x

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