Search
Now showing items 1-2 of 2
Neurodegeneration Trajectory in Pediatric and Adult/Late DM1: a Follow-up MRI Study Across a Decade
(Wiley, 2020-10)
Objective: To characterize the progression of brain structural abnormalities in adults with pediatric and adult/late onset DM1, as well as to examine the potential predictive markers of such progression.
Methods: 21 DM1 ...
Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations
(Frontiers Media, 2022)
[EN] LGMDR1 is caused by mutations in the CAPN3 gene that encodes calpain 3 (CAPN3), a non-lysosomal cysteine protease necessary for proper muscle function. Our previous findings show that CAPN3 deficiency leads to reduced ...