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Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
Although multiple CHCHD10 mutations are associated with the spectrum of familial and sporadic frontotemporal dementia–amyotrophic lateral sclerosis (FTD–ALS) diseases, neither the normal function of endogenous CHCHD10 nor its role in the pathological milieu (that is, TDP-43 pathology) of FTD/ALS hav...
Autores principales: | Woo, Jung-A. A., Liu, Tian, Trotter, Courtney, Fang, Cenxiao C., De Narvaez, Emillio, LePochat, Patrick, Maslar, Drew, Bukhari, Anusha, Zhao, Xingyu, Deonarine, Andrew, Westerheide, Sandy D., Kang, David E. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467170/ https://www.ncbi.nlm.nih.gov/pubmed/28585542 http://dx.doi.org/10.1038/ncomms15558 |
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