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The PINK1 p.Asn521Thr Variant Is Associated with Earlier Disease Onset in GRN/C9orf72 Frontotemporal Lobar Degeneration

Genetic frontotemporal lobar degeneration (FTLD) is characterized by heterogeneous phenotypic expression, with a disease onset highly variable even in patients carrying the same mutation. Herein we investigated if variants in lysosomal genes modulate the age of onset both in FTLD due to GRN null mut...

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Detalles Bibliográficos
Autores principales:	Rossi, Giacomina, Salvi, Erika, Benussi, Luisa, Mehmeti, Elkadia, Geviti, Andrea, Bellini, Sonia, Longobardi, Antonio, Facconi, Alessandro, Carrara, Matteo, Bonvicini, Cristian, Nicsanu, Roland, Saraceno, Claudia, Ricci, Martina, Giaccone, Giorgio, Binetti, Giuliano, Ghidoni, Roberta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9656574/ https://www.ncbi.nlm.nih.gov/pubmed/36361641 http://dx.doi.org/10.3390/ijms232112847

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