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Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions

Since the discovery of the C9orf72 repeat expansion as the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis, it has increasingly been associated with a wider spectrum of phenotypes, including other types of dementia, movement disorders, psychiatric symptom...

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Detalles Bibliográficos
Autores principales: van der Ende, Emma L., Jackson, Jazmyne L., White, Adrianna, Seelaar, Harro, van Blitterswijk, Marka, Van Swieten, John C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8053328/
https://www.ncbi.nlm.nih.gov/pubmed/33452054
http://dx.doi.org/10.1136/jnnp-2020-325377