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Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic Strategies: A Review

In 2011, a pathogenic hexanucleotide repeat expansion in the C9ORF72 gene was discovered to be the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Before this, the C9ORF72 gene and its protein were unknown. The repeat expansion was found to cause both...

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Detalles Bibliográficos
Autores principales: Breevoort, Sarah, Gibson, Summer, Figueroa, Karla, Bromberg, Mark, Pulst, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128039/
https://www.ncbi.nlm.nih.gov/pubmed/35620137
http://dx.doi.org/10.1212/NXG.0000000000000670