Title : OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.

Pub. Date : 2018 Jan

PMID : 29080331






2 Functional Relationships(s)
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Protein Name
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1 OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. polyglutamine ataxin 2 Homo sapiens
2 In addition to the C9orf72 expansion, we observed an ATXN2 polyQ intermediate length expansion, and OPTN p.Met468Arg in patients who exhibited ALS and FTD or bvFTD. polyglutamine ataxin 2 Homo sapiens