. Association study between multiple system atrophy and TREM2 p.R47H. Neurol Genet. 2018 Aug;4(4):e257. PubMed.


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  1. I would like to see this replicated. The proposed associations with PD and ALS were not correct. With small numbers and rare variants this is often a tough study to do and repeat and there will be a tendency for only positive reports to make it into the literature. There are so few cases that another problem is that every group collecting samples tends to have overlapping sample sets, which makes audit of replications difficult.

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