Hübner, Christoph

Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child

Schuelke, M., Wagner, K. R., Stolz, L. E., Hübner, C., Riebel, T., Kömen, W., Braun, T., Tobin, J. F., & Lee, S.-J. (2004) · New England Journal of Medicine

Muscle Physiology and DisordersCardiomyopathy and Myosin Studies

Cited by 1,399

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Hartmann, B., Wai, T., Hu, H., MacVicar, T., Musante, L., Fischer-Zirnsak, B., Stenzel, W., Gräf, R., van den Heuvel, L., Ropers, H.-H., et al. (2016) · eLife

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 124

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Thorwarth, A., Schnittert-Hübener, S., Schrumpf, P., Müller, I., Jyrch, S., Dame, C., Biebermann, H., Kleinau, G., Katchanov, J., Schuelke, M., et al. (2014) · Journal of Medical Genetics

Genomics and Rare DiseasesDevelopmental Biology and Gene Regulation

Cited by 115