Dr Cas Simons
Dr Cas Simons
Top Publications
- Deuis, JR, Kumble, S, Keramidas, A, Ragnarsson, L, Simons, C, Pais, L, White, SM, Vetter, I. Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7). Human Molecular Genetics 33(2) : 103 -109 2024 view publication
- Nafisinia, M, Riley, LG, Gold, WA, Bhattacharya, K, Broderick, CR, Thorburn, DR, Simons, C, Christodoulou, J. Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. PLOS ONE 12(6) : e0178125 2024 view publication
- Miller, DK, Menezes, MJ, Simons, C, Riley, LG, Cooper, ST, Grimmond, SM, Thorburn, DR, Christodoulou, J, Taft, RJ. Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient. PLOS ONE 9(8) : e104879 2024 view publication
- Fröhlich, D, Suchowerska, AK, Voss, C, He, R, Wolvetang, E, von Jonquieres, G, Simons, C, Fath, T, Housley, GD, Klugmann, M. Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain. Frontiers in Molecular Neuroscience 11: 81 2024 view publication
- Thiffault, I, Wolf, NI, Forget, D, Guerrero, K, Tran, LT, Choquet, K, Lavallée-Adam, M, Poitras, C, Brais, B, Yoon, G, et al. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature Communications 6(1) : 7623 2024 view publication
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