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Results: 1 to 20 of 54

1.

Two Siblings with Homozygous Pathogenic Splice Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2).

Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M, Van Coster R.

Hum Mutat. 2014 Nov 11. doi: 10.1002/humu.22728. [Epub ahead of print]

PMID:
25385316
[PubMed - as supplied by publisher]
2.

A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome.

Vancampenhout K, Caljon B, Spits C, Stouffs K, Jonckheere A, De Meirleir L, Lissens W, Vanlander A, Smet J, De Paepe B, Van Coster R, Seneca S.

PLoS One. 2014 Nov 10;9(11):e112950. doi: 10.1371/journal.pone.0112950. eCollection 2014.

PMID:
25383547
[PubMed - in process]
Free PMC Article
3.

Possible Pathogenic Mechanism of Propofol Infusion Syndrome Involves Coenzyme Q.

Vanlander AV, Okun JG, de Jaeger A, Smet J, De Latter E, De Paepe B, Dacremont G, Wuyts B, Vanheel B, De Paepe P, Jorens PG, Regenmortel Van N, Coster Van R.

Anesthesiology. 2014 Oct 7. [Epub ahead of print]

PMID:
25296107
[PubMed - as supplied by publisher]
4.

Multivariate modular metabolic engineering for pathway and strain optimization.

Biggs BW, De Paepe B, Santos CN, De Mey M, Kumaran Ajikumar P.

Curr Opin Biotechnol. 2014 Oct;29:156-62. doi: 10.1016/j.copbio.2014.05.005. Epub 2014 Jun 11.

PMID:
24927371
[PubMed - in process]
5.

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Seneca S, Vancampenhout K, Van Coster R, Smet J, Lissens W, Vanlander A, De Paepe B, Jonckheere A, Stouffs K, De Meirleir L.

Eur J Hum Genet. 2014 Mar 26. doi: 10.1038/ejhg.2014.49. [Epub ahead of print]

PMID:
24667782
[PubMed - as supplied by publisher]
6.

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.

Kalko SG, Paco S, Jou C, Rodríguez MA, Meznaric M, Rogac M, Jekovec-Vrhovsek M, Sciacco M, Moggio M, Fagiolari G, De Paepe B, De Meirleir L, Ferrer I, Roig-Quilis M, Munell F, Montoya J, López-Gallardo E, Ruiz-Pesini E, Artuch R, Montero R, Torner F, Nascimento A, Ortez C, Colomer J, Jimenez-Mallebrera C.

BMC Genomics. 2014 Feb 1;15:91. doi: 10.1186/1471-2164-15-91.

PMID:
24484525
[PubMed - in process]
Free PMC Article
7.

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy.

De Paepe B, De Bleecker JL.

Mediators Inflamm. 2013;2013:540370. doi: 10.1155/2013/540370. Epub 2013 Nov 5. Review.

PMID:
24302815
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Heat-shock proteins in autoimmunity.

Moudgil KD, Thompson SJ, Geraci F, De Paepe B, Shoenfeld Y.

Autoimmune Dis. 2013;2013:621417. doi: 10.1155/2013/621417. Epub 2013 May 19. No abstract available.

PMID:
23762533
[PubMed]
Free PMC Article
9.

Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects.

De Paepe B, Vandemeulebroecke K, Smet J, Vanlander A, Seneca S, Lissens W, Van Hove JL, Deschepper E, Briones P, Van Coster R.

Phytother Res. 2014 Feb;28(2):312-6. doi: 10.1002/ptr.4988. Epub 2013 Apr 26.

PMID:
23620374
[PubMed - indexed for MEDLINE]
10.

Morphological spectrum and clinical features of myopathies with tubular aggregates.

Funk F, Ceuterick-de Groote C, Martin JJ, Meinhardt A, Taratuto AL, De Bleecker J, Van Coster R, De Paepe B, Schara U, Vorgerd M, Häusler M, Koppi S, Maschke M, De Jonghe P, Van Maldergem L, Noel S, Zimmermann CW, Wirth S, Isenmann S, Stadler R, Schröder JM, Schulz JB, Weis J, Claeys KG.

Histol Histopathol. 2013 Aug;28(8):1041-54. Epub 2013 Mar 12.

PMID:
23479431
[PubMed - indexed for MEDLINE]
11.

Unraveling the mechanisms behind the enhanced MTT conversion by irradiated breast cancer cells.

Blockhuys S, Vanhoecke B, Smet J, De Paepe B, Van Coster R, Bracke M, De Wagter C.

Radiat Res. 2013 Apr;179(4):433-43. doi: 10.1667/RR3070.1. Epub 2013 Mar 6.

PMID:
23465060
[PubMed - indexed for MEDLINE]
12.

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R.

Hum Mol Genet. 2013 Jul 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5.

PMID:
23462291
[PubMed - indexed for MEDLINE]
Free Article
13.

The nonnecrotic invaded muscle fibers of polymyositis and sporadic inclusion body myositis: on the interplay of chemokines and stress proteins.

De Paepe B, De Bleecker JL.

Neurosci Lett. 2013 Feb 22;535:18-23. doi: 10.1016/j.neulet.2012.11.064. Epub 2013 Jan 4.

PMID:
23295907
[PubMed - indexed for MEDLINE]
14.

Upregulation of chemokines and their receptors in Duchenne muscular dystrophy: potential for attenuation of myofiber necrosis.

De Paepe B, Creus KK, Martin JJ, De Bleecker JL.

Muscle Nerve. 2012 Dec;46(6):917-25. doi: 10.1002/mus.23481.

PMID:
23225384
[PubMed - indexed for MEDLINE]
15.

Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms.

Mussche S, De Paepe B, Smet J, Devreese K, Lissens W, Rasic VM, Murnane M, Devreese B, Van Coster R.

Muscle Nerve. 2012 Aug;46(2):246-56. doi: 10.1002/mus.23306.

PMID:
22806374
[PubMed - indexed for MEDLINE]
16.

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

De Paepe B, Smet J, Vanlander A, Seneca S, Lissens W, De Meirleir L, Vandewoestyne M, Deforce D, Rodenburg RJ, Van Coster R.

Pediatr Res. 2012 Sep;72(3):232-40. doi: 10.1038/pr.2012.84. Epub 2012 Jun 22.

PMID:
22728747
[PubMed - indexed for MEDLINE]
17.

The multifaceted character of lymphotoxin β in inflammatory myopathies and muscular dystrophies.

Creus KK, De Paepe B, Weis J, De Bleecker JL.

Neuromuscul Disord. 2012 Aug;22(8):712-9. doi: 10.1016/j.nmd.2012.04.012. Epub 2012 May 30.

PMID:
22652080
[PubMed - indexed for MEDLINE]
18.

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome.

Vanlander AV, Jorens PG, Smet J, De Paepe B, Verbrugghe W, Van den Eynden GG, Meire F, Pauwels P, Van der Aa N, Seneca S, Lissens W, Okun JG, Van Coster R.

Acta Anaesthesiol Scand. 2012 Apr;56(4):520-5. doi: 10.1111/j.1399-6576.2011.02628.x. Epub 2012 Jan 19.

PMID:
22260353
[PubMed - indexed for MEDLINE]
19.

The tumor necrosis factor superfamily of cytokines in the inflammatory myopathies: potential targets for therapy.

De Paepe B, Creus KK, De Bleecker JL.

Clin Dev Immunol. 2012;2012:369432. doi: 10.1155/2012/369432. Epub 2011 Oct 23. Review.

PMID:
22110532
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Dermatomyositis and polymyositis: new treatment targets on the horizon.

Hak AE, de Paepe B, de Bleecker JL, Tak PP, de Visser M.

Neth J Med. 2011 Oct;69(10):410-21. Review.

PMID:
22058260
[PubMed - indexed for MEDLINE]
Free Article

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