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New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers

Frontotemporal dementia (FTD) is a fatal neurodegenerative disease characterized by behavioral and language disorders. The main genetic cause of FTD is an intronic hexanucleotide repeat expansion (G(4)C(2))n in the C9ORF72 gene. A loss of function of the C9ORF72 protein associated with the allele-sp...

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Detalles Bibliográficos
Autores principales:	Viodé, Arthur, Fournier, Clémence, Camuzat, Agnès, Fenaille, François, Latouche, Morwena, Elahi, Fanny, Le Ber, Isabelle, Junot, Christophe, Lamari, Foudil, Anquetil, Vincent, Becher, François
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122177/ https://www.ncbi.nlm.nih.gov/pubmed/30210275 http://dx.doi.org/10.3389/fnins.2018.00589

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