Browsing by Author "Winborn, BJ"

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    • Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 

      Johnson, JO; Pioro, EP; Boehringer, A; Chia, R; Feit, H; Renton, AE; Pliner, HA; Abramzon, Y; Marangi, G; Winborn, BJ (Nature Research (part of Springer Nature), 2014-03-30)
      MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 ...