C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

A non-coding hexanucleotide repeat expansion (HRE) in C9orf72 is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) acting through a loss of function mechanism due to haploinsufficiency of C9orf72 or a gain of function mediated by aggregates of bidirectionally tr...

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Detalhes bibliográficos
Publicado no:Acta Neuropathol Commun
Main Authors: Rizzu, Patrizia, Blauwendraat, Cornelis, Heetveld, Sasja, Lynes, Emily M., Castillo-Lizardo, Melissa, Dhingra, Ashutosh, Pyz, Elwira, Hobert, Markus, Synofzik, Matthis, Simón-Sánchez, Javier, Francescatto, Margherita, Heutink, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4832459/
https://ncbi.nlm.nih.gov/pubmed/27079381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-016-0306-7
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