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Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation by Inger Marie Skogseid, Oddveig Røsby, Ane Konglund, James P. Connelly, Bård Nedregaard, Greg Eigner Jablonski, Nadja Kvernmo, Asbjørg Stray-Pedersen, Joel C. Glover
Published 2018-05-01
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Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation by Helle Høyer, Øyvind L. Busk, Q. Ying. Esbensen, Oddveig Røsby, Hilde T. Hilmarsen, Michael B. Russell, Tuula A. Nyman, Geir J. Braathen, Hilde L. Nilsen
Published 2022-08-01
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