Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

por Skogseid, Inger Marie, Røsby, Oddveig, Konglund, Ane, Connelly, James P., Nedregaard, Bård, Jablonski, Greg Eigner, Kvernmo, Nadja, Stray-Pedersen, Asbjørg, Glover, Joel C.
Publicado 2018

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation

por Høyer, Helle, Busk, Øyvind L., Esbensen, Q. Ying., Røsby, Oddveig, Hilmarsen, Hilde T., Russell, Michael B., Nyman, Tuula A., Braathen, Geir J., Nilsen, Hilde L.
Publicado 2022