TY  - CONF
AU  - Servian-Morilla, E.
AU  - Mavillard, F.
AU  - Cantero-Nieto, G.
AU  - Takeuchi, H.
AU  - Clarimon, J.
AU  - Bigot, A.
AU  - Fernandez-Chacon, R.
AU  - Haltiwanger, R.
AU  - Jafar-Nejad, H.
AU  - Paradas, C.
PY  - 2016
DO  - 10.1016/j.nmd.2016.06.020
SN  - 0960-8966
UR  - https://hdl.handle.net/10668/27532
T2  - Neuromuscular disorders
AB  - Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limb-girdle muscular dystrophy, we identified the D233E missense...
LA  - en
PB  - Pergamon-elsevier science ltd
KW  - Dystroglycans
KW  - Platelet Aggregation Inhibitors
KW  - Muscular Dystrophies
KW  - Muscular Dystrophies, Limb-Girdle
KW  - Muscle, Skeletal
KW  - Muscle Development
KW  - Glucosyltransferases
KW  - Regeneration
KW  - Glycosylation
KW  - Mutation, Missense
KW  - Satellite Cells, Skeletal Muscle
KW  - Limb-girdle muscular dystrophy autosomal recessive
KW  - Cell Line
KW  - Protein Processing, Post-Translational
KW  - Cell Proliferation
KW  - Phenotype
TI  - A POGLUT1 mutation causes a muscular dystrophy with reduced notch signaling and satellite cell loss
TY  - conference output
VL  - 26
ER  -