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

Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subtype of FTD, frontotemporal lobar degeneration (FTLD)-FET, is characterized by protein aggreg...

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Detalles Bibliográficos
Autores principales: Nicolas, Gaël, Sévigny, Myriam, Lecoquierre, François, Marguet, Florent, Deschênes, Andréanne, del Pelaez, Maria Carment, Feuillette, Sébastien, Audebrand, Anaïs, Lecourtois, Magalie, Rousseau, Stéphane, Richard, Anne-Claire, Cassinari, Kévin, Deramecourt, Vincent, Duyckaerts, Charles, Boland, Anne, Deleuze, Jean-François, Meyer, Vincent, Clarimon Echavarria, Jordi, Gelpi, Ellen, Akiyama, Haruhiko, Hasegawa, Masato, Kawakami, Ito, Wong, Tsz H., Van Rooij, Jeroen G. J., Van Swieten, John C., Campion, Dominique, Dutchak, Paul A., Wallon, David, Lavoie-Cardinal, Flavie, Laquerrière, Annie, Rovelet-Lecrux, Anne, Sephton, Chantelle F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8841087/
https://www.ncbi.nlm.nih.gov/pubmed/35151370
http://dx.doi.org/10.1186/s40478-022-01314-x

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