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Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R, Szklarczyk R, Theunissen TE, Hellebrekers DMEI, Sallevelt SCEH, Boesten IB, de Koning B, van den Bosch BJ, Salomons GS, Simas-Mendes M, Verdijk R, Schoonderwoerd K, de Coo IFM, Vanoevelen JM, Smeets HJM. Kamps R, et al. Among authors: simas mendes m. Eur J Hum Genet. 2018 Apr;26(4):537-551. doi: 10.1038/s41431-017-0058-2. Epub 2018 Feb 13. Eur J Hum Genet. 2018. PMID: 29440775 Free PMC article.
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.
Jaeger B, Abeling NG, Salomons GS, Struys EA, Simas-Mendes M, Geukers VG, Poll-The BT. Jaeger B, et al. Among authors: simas mendes m. Mol Genet Metab Rep. 2016 Feb 10;6:60-3. doi: 10.1016/j.ymgmr.2016.01.004. eCollection 2016 Mar. Mol Genet Metab Rep. 2016. PMID: 27014579 Free PMC article.