Roos, Andreas

SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

Stendel, C., Roos, A., Kleine, H., Arnaud, E., Özçelik, M., Sidiropoulos, P. N. M., Zenker, J., Schüpfer, F., Lehmann, U., Sobota, R. M., et al. (2010) · Brain

Hereditary Neurological DisordersCellular transport and secretion

Cited by 102

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Gangfuß, A., Czech, A., Hentschel, A., Münchberg, U., Horvath, R., Töpf, A., O'Heir, E., Lochmüller, H., Stehling, F., Kiewert, C., et al. (2022) · The Journal of Pathology

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 10