Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset

Neurofilament heavy (NEFH) is one of the critical proteins required for the formation of the neuronal cytoskeleton and polymorphisms in NEFH are reported as a rare cause of sporadic ALS (sALS). In the current study, a candidate tetranucleotide (TTTA) repeat variant in NEFH was selected using an in-s...

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Detalles Bibliográficos
Autores principales: Theunissen, Frances, Anderton, Ryan S., Mastaglia, Frank L., James, Ian, Bedlack, Richard, Akkari, P. Anthony
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9427846/
https://www.ncbi.nlm.nih.gov/pubmed/36042248
http://dx.doi.org/10.1038/s41598-022-18942-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9427846/
https://www.ncbi.nlm.nih.gov/pubmed/36042248
http://dx.doi.org/10.1038/s41598-022-18942-x

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