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Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD
The most common genetic cause of familial and sporadic amyotrophic lateral sclerosis (ALS) is a GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene. While direct molecular hallmarks of the C9orf72 HRE (repeat RNA foci, dipeptide repeat protein pathology) are well characterized, the mech...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7977268/ https://www.ncbi.nlm.nih.gov/pubmed/33741069 http://dx.doi.org/10.1186/s40478-021-01150-5 |