A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
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| 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 |
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| Année | 2 022 |
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| url DOI | 10.1186/s40478-022-01314-x |