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

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

por Misceo, Doriana, Lirussi, Lisa, Strømme, Petter, Sumathipala, Dulika, Guerin, Andrea, Wolf, Nicole I, Server, Andres, Stensland, Maria, Dalhus, Bjørn, Tolun, Aslıhan, Kroes, Hester Y, Nyman, Tuula A, Nilsen, Hilde L, Frengen, Eirik
Publicado 2023