Distelmaier, Felix

Genetic diagnosis of Mendelian disorders via RNA sequencing

Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., et al. (2017) · Nature Communications

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 590

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

Distelmaier, F., Koopman, W. J. H., van den Heuvel, L. P., Rodenburg, R. J., Mayatepek, E., Willems, P. H. G. M., & Smeitink, J. A. M. (2008) · Brain

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 310

The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria

Milev, M. P., Saint‐Dic, D., Zardoui, K., Klopstock, T., Law, C., Distelmaier, F., & Sacher, M. (2021) · Journal of Inherited Metabolic Disease

Cellular transport and secretionMetabolism and Genetic Disorders

Cited by 53

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID

Redler, S., Strom, T. M., Wieland, T., Cremer, K., Engels, H., Distelmaier, F., Schaper, J., Küchler, A., Lemke, J. R., Jeschke, S., et al. (2017) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 38

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Wagner, M., Skorobogatko, Y., Pode-Shakked, B., Powell, C. M., Alhaddad, B., Seibt, A., Barel, O., Heimer, G., Hoffmann, C., Demmer, L. A., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersProtein Kinase Regulation and GTPase Signaling

Cited by 31