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C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia

The expanded GGGGCC hexanucleotide repeat (HRE) in the non-coding region of the C9ORF72 gene (C9ORF72-HRE) is the most common genetic cause of familial forms of amyotrophic lateral sclerosis (ALS), FTD, and concurrent ALS and FTD (ALS-FTD), in addition to contributing to the sporadic forms of these...

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Detalles Bibliográficos
Autores principales:	Kortazar-Zubizarreta, Izaro, Manero-Azua, Africa, Afonso-Agüera, Juan, Perez de Nanclares, Guiomar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10532825/ https://www.ncbi.nlm.nih.gov/pubmed/37763163 http://dx.doi.org/10.3390/jpm13091396

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