Seneca S - Search Results

1

Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.

Vanlander AV, Muiño Mosquera L, Panzer J, Deconinck T, Smet J, Seneca S, Van Dorpe J, Ferdinande L, Ceuterick-de Groote C, De Jonghe P, Van Coster R, Baets J. Vanlander AV, et al. Among authors: seneca s. Mitochondrion. 2016 Mar;27:32-8. doi: 10.1016/j.mito.2016.02.001. Epub 2016 Feb 23. Mitochondrion. 2016. PMID: 26855408

2

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.

Debray FG, Seneca S, Gonce M, Vancampenhaut K, Bianchi E, Boemer F, Weekers L, Smet J, Van Coster R. Debray FG, et al. Among authors: seneca s. Mitochondrion. 2014 Jul;17:101-5. doi: 10.1016/j.mito.2014.06.003. Epub 2014 Jun 20. Mitochondrion. 2014. PMID: 24956508

3

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

Meulemans A, De Paepe B, De Bleecker J, Smet J, Lissens W, Van Coster R, De Meirleir L, Seneca S. Meulemans A, et al. Among authors: seneca s. Arch Neurol. 2007 Sep;64(9):1339-43. doi: 10.1001/archneur.64.9.1339. Arch Neurol. 2007. PMID: 17846276

4

The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders.

Meulemans A, Gerlo E, Seneca S, Lissens W, Smet J, Van Coster R, De Meirleir L. Meulemans A, et al. Among authors: seneca s. Acta Neurol Belg. 2007 Sep;107(3):78-83. Acta Neurol Belg. 2007. PMID: 18072335

5

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

Smet J, Seneca S, De Paepe B, Meulemans A, Verhelst H, Leroy J, De Meirleir L, Lissens W, Van Coster R. Smet J, et al. Among authors: seneca s. Electrophoresis. 2009 Oct;30(20):3565-72. doi: 10.1002/elps.200900213. Electrophoresis. 2009. PMID: 19862739

6

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. De Paepe B, et al. Among authors: seneca s. Pediatr Res. 2012 Sep;72(3):232-40. doi: 10.1038/pr.2012.84. Epub 2012 Jun 22. Pediatr Res. 2012. PMID: 22728747

7

Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions.

De Praeter C, Vanlander A, Vanhaesebrouck P, Smet J, Seneca S, De Sutter P, Van Coster R. De Praeter C, et al. Among authors: seneca s. Eur J Pediatr. 2015 Feb;174(2):267-70. doi: 10.1007/s00431-014-2370-y. Epub 2014 Jul 10. Eur J Pediatr. 2015. PMID: 25009317

8

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. Vanlander AV, et al. Among authors: seneca s. Hum Mutat. 2015 Feb;36(2):222-31. doi: 10.1002/humu.22728. Hum Mutat. 2015. PMID: 25385316

9

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

Debray FG, Stümpfig C, Vanlander AV, Dideberg V, Josse C, Caberg JH, Boemer F, Bours V, Stevens R, Seneca S, Smet J, Lill R, van Coster R. Debray FG, et al. Among authors: seneca s. J Inherit Metab Dis. 2015 Nov;38(6):1147-53. doi: 10.1007/s10545-015-9857-1. Epub 2015 May 14. J Inherit Metab Dis. 2015. PMID: 25971455

10

New insights into the phenotype of FARS2 deficiency.

Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, Smet J, Vergult S, De Paepe B, Seneca S, Roeyers H, Menten B, Minczuk M, Vanlander A, Van Hove J, Van Coster R. Vantroys E, et al. Among authors: seneca s. Mol Genet Metab. 2017 Dec;122(4):172-181. doi: 10.1016/j.ymgme.2017.10.004. Epub 2017 Oct 12. Mol Genet Metab. 2017. PMID: 29126765 Free PMC article.

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