Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

A hexanucleotide (GGGGCC) expansion in C9ORF72 gene is the most common genetic change seen in familial Frontotemporal Lobar Degeneration (FTLD) and familial Motor Neurone Disease (MND). Pathologically, expansion bearers show characteristic p62 positive, TDP-43 negative inclusion bodies within cerebe...

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Detalhes bibliográficos
Publicado no:Acta Neuropathol Commun
Main Authors: Davidson, Yvonne S, Barker, Holly, Robinson, Andrew C, Thompson, Jennifer C, Harris, Jenny, Troakes, Claire, Smith, Bradley, Al-Saraj, Safa, Shaw, Chris, Rollinson, Sara, Masuda-Suzukake, Masami, Hasegawa, Masato, Pickering-Brown, Stuart, Snowden, Julie S, Mann, David M
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4229740/
https://ncbi.nlm.nih.gov/pubmed/24950788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2051-5960-2-70
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