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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: szklarczyk r. 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.
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ, Nguyen M, Kamps R, Hendrickx AT, Sallevelt SCEH, Gottschalk RWH, Calis CM, Stassen APM, de Koning B, Mulder-Den Hartog ENM, Schoonderwoerd K, Fuchs SA, Hilhorst-Hofstee Y, de Visser M, Vanoevelen J, Szklarczyk R, Gerards M, de Coo IFM, Hellebrekers DMEI, Smeets HJM. Theunissen TEJ, et al. Among authors: szklarczyk r. Front Genet. 2018 Oct 12;9:400. doi: 10.3389/fgene.2018.00400. eCollection 2018. Front Genet. 2018. PMID: 30369941 Free PMC article.
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ. Theunissen TE, et al. Among authors: szklarczyk r. Front Neurol. 2016 Nov 16;7:203. doi: 10.3389/fneur.2016.00203. eCollection 2016. Front Neurol. 2016. PMID: 27899912 Free PMC article.
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
Theunissen TEJ, Sallevelt SCEH, Hellebrekers DMEI, de Koning B, Hendrickx ATM, van den Bosch BJC, Kamps R, Schoonderwoerd K, Szklarczyk R, Mulder-Den Hartog ENM, de Coo IFM, Smeets HJM. Theunissen TEJ, et al. Among authors: szklarczyk r. J Pediatr. 2017 Mar;182:371-374.e2. doi: 10.1016/j.jpeds.2016.12.032. Epub 2017 Jan 9. J Pediatr. 2017. PMID: 28081892
A comprehensive strategy for exome-based preconception carrier screening.
Sallevelt SCEH, de Koning B, Szklarczyk R, Paulussen ADC, de Die-Smulders CEM, Smeets HJM. Sallevelt SCEH, et al. Among authors: szklarczyk r. Genet Med. 2017 May;19(5):583-592. doi: 10.1038/gim.2016.153. Epub 2016 Oct 27. Genet Med. 2017. PMID: 28492530 Free article.
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.
Theunissen TEJ, Gerards M, Hellebrekers DMEI, van Tienen FH, Kamps R, Sallevelt SCEH, Hartog ENMM, Scholte HR, Verdijk RM, Schoonderwoerd K, de Coo IFM, Szklarczyk R, Smeets HJM. Theunissen TEJ, et al. Among authors: szklarczyk r. Front Mol Neurosci. 2017 Oct 18;10:336. doi: 10.3389/fnmol.2017.00336. eCollection 2017. Front Mol Neurosci. 2017. PMID: 29093663 Free PMC article.
Control of mitochondrial integrity in ageing and disease.
Szklarczyk R, Nooteboom M, Osiewacz HD. Szklarczyk R, et al. Philos Trans R Soc Lond B Biol Sci. 2014 Jul 5;369(1646):20130439. doi: 10.1098/rstb.2013.0439. Philos Trans R Soc Lond B Biol Sci. 2014. PMID: 24864310 Free PMC article. Review.
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA. Wanschers BF, et al. Among authors: szklarczyk r. Hum Mol Genet. 2014 Dec 1;23(23):6356-65. doi: 10.1093/hmg/ddu357. Epub 2014 Jul 9. Hum Mol Genet. 2014. PMID: 25008109
42 results