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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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: BioMed Central 2014
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Online Access: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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