Investigating the role of striatal dopamine receptor 2 in motor coordination and balance: Insights into the pathogenesis of DYT1 dystonia
Sign Up to like & getrecommendations! Published in 2021 at "Behavioural Brain Research"
DOI: 10.1016/j.bbr.2021.113137
Abstract: DYT1 or DYT-TOR1A dystonia is early-onset, generalized dystonia. Most DYT1 dystonia patients have a heterozygous trinucleotide GAG deletion in DYT1 or TOR1A gene, with a loss of a glutamic acid residue of the protein torsinA.… read more here.
Keywords: dyt1; dyt1 dystonia; motor; drd2 ... See more keywords
Les dystonies primitives non liées au gène DYT1 : variabilité phénotypique et difficultés diagnostiques
Sign Up to like & getrecommendations! Published in 2017 at "Revue Neurologique"
DOI: 10.1016/j.neurol.2017.01.279
Abstract: Introduction La dystonie est definie par une contraction musculaire anormale responsable de mouvements ou de postures anormales. La forme monogenique la plus frequente est la DYT1 liee au gene TOR1A. Objectifs Determiner la frequence de la… read more here.
Keywords: dystonie; dystonies primitives; non dyt1; dyt1 ... See more keywords