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Items: 1 to 20 of 39

1.

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.

Eur J Hum Genet. 2018 Feb 13. doi: 10.1038/s41431-017-0058-2. [Epub ahead of print]

PMID:
29440775
2.

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.

Front Mol Neurosci. 2017 Oct 18;10:336. doi: 10.3389/fnmol.2017.00336. eCollection 2017.

3.

A comprehensive strategy for exome-based preconception carrier screening.

Sallevelt SCEH, de Koning B, Szklarczyk R, Paulussen ADC, de Die-Smulders CEM, Smeets HJM.

Genet Med. 2017 May;19(5):583-592. doi: 10.1038/gim.2016.153. Epub 2016 Oct 27.

PMID:
28492530
4.

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Kapetis D, Sassone J, Yang Y, Galbardi B, Xenakis MN, Westra RL, Szklarczyk R, Lindsey P, Faber CG, Gerrits M, Merkies IS, Dib-Hajj SD, Mantegazza M, Waxman SG, Lauria G; PROPANE Study Group.

BMC Syst Biol. 2017 Feb 24;11(1):28. doi: 10.1186/s12918-016-0382-0.

5.

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.

J Pediatr. 2017 Mar;182:371-374.e2. doi: 10.1016/j.jpeds.2016.12.032. Epub 2017 Jan 9.

PMID:
28081892
6.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S.

Dis Model Mech. 2017 Feb 1;10(2):105-118. doi: 10.1242/dmm.026476. Epub 2016 Dec 15.

7.

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.

Front Neurol. 2016 Nov 16;7:203. eCollection 2016.

8.

A comprehensive strategy for exome-based preconception carrier screening.

Sallevelt SC, de Koning B, Szklarczyk R, Paulussen AD, de Die-Smulders CE, Smeets HJ.

Genet Med. 2016 Oct 27. doi: 10.1038/gim.2016.153. [Epub ahead of print]

PMID:
27787503
9.

WeGET: predicting new genes for molecular systems by weighted co-expression.

Szklarczyk R, Megchelenbrink W, Cizek P, Ledent M, Velemans G, Szklarczyk D, Huynen MA.

Nucleic Acids Res. 2016 Jan 4;44(D1):D567-73. doi: 10.1093/nar/gkv1228. Epub 2015 Nov 17.

10.

Integrative Genomics-Based Discovery of Novel Regulators of the Innate Antiviral Response.

van der Lee R, Feng Q, Langereis MA, Ter Horst R, Szklarczyk R, Netea MG, Andeweg AC, van Kuppeveld FJ, Huynen MA.

PLoS Comput Biol. 2015 Oct 20;11(10):e1004553. doi: 10.1371/journal.pcbi.1004553. eCollection 2015 Oct.

11.

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.

van der Lee R, Szklarczyk R, Smeitink J, Smeets HJ, Huynen MA, Vogel R.

BMC Genomics. 2015 Sep 15;16:691. doi: 10.1186/s12864-015-1883-8.

12.

Olfactory receptor genes cooperate with protocadherin genes in human extreme obesity.

Mariman EC, Szklarczyk R, Bouwman FG, Aller EE, van Baak MA, Wang P.

Genes Nutr. 2015 Jul;10(4):465. doi: 10.1007/s12263-015-0465-3. Epub 2015 May 6.

13.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA.

Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15.

14.

Big data and other challenges in the quest for orthologs.

Sonnhammer EL, Gabaldón T, Sousa da Silva AW, Martin M, Robinson-Rechavi M, Boeckmann B, Thomas PD, Dessimoz C; Quest for Orthologs consortium.

Bioinformatics. 2014 Nov 1;30(21):2993-8. doi: 10.1093/bioinformatics/btu492. Epub 2014 Jul 26.

15.

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.

Hum Mol Genet. 2014 Dec 1;23(23):6356-65. doi: 10.1093/hmg/ddu357. Epub 2014 Jul 9.

PMID:
25008109
16.

How to deal with oxygen radicals stemming from mitochondrial fatty acid oxidation.

Speijer D, Manjeri GR, Szklarczyk R.

Philos Trans R Soc Lond B Biol Sci. 2014 Jul 5;369(1646):20130446. doi: 10.1098/rstb.2013.0446. Review.

17.

Control of mitochondrial integrity in ageing and disease.

Szklarczyk R, Nooteboom M, Osiewacz HD.

Philos Trans R Soc Lond B Biol Sci. 2014 Jul 5;369(1646):20130439. doi: 10.1098/rstb.2013.0439. Review.

18.

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR.

PLoS Genet. 2013;9(12):e1004034. doi: 10.1371/journal.pgen.1004034. Epub 2013 Dec 26.

19.

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP.

Hum Mol Genet. 2013 Feb 15;22(4):656-67. doi: 10.1093/hmg/dds473. Epub 2012 Nov 2.

PMID:
23125284
20.

NDUFA4 is a subunit of complex IV of the mammalian electron transport chain.

Balsa E, Marco R, Perales-Clemente E, Szklarczyk R, Calvo E, Landázuri MO, Enríquez JA.

Cell Metab. 2012 Sep 5;16(3):378-86. doi: 10.1016/j.cmet.2012.07.015. Epub 2012 Aug 16.

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