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Results: 1 to 20 of 103

1.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB.

Front Genet. 2015 Apr 13;6:123. doi: 10.3389/fgene.2015.00123. eCollection 2015.

2.

Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.

Hejzlarová K, Kaplanová V, Nůsková H, Kovářová N, Ješina P, Drahota Z, Mráček T, Seneca S, Houštěk J.

Biochem J. 2015 Mar 15;466(3):601-11. doi: 10.1042/BJ20141462.

PMID:
25588698
3.

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. 2015 Feb;36(2):222-31. doi: 10.1002/humu.22728.

PMID:
25385316
4.

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.

5.

Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.

Marín-Buera L, García-Bartolomé A, Morán M, López-Bernardo E, Cadenas S, Hidalgo B, Sánchez R, Seneca S, Arenas J, Martín MA, Ugalde C.

J Proteomics. 2015 Jan 15;113:38-56. doi: 10.1016/j.jprot.2014.09.007. Epub 2014 Sep 18.

PMID:
25239759
6.

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G.

Hum Genet. 2014 Nov;133(11):1359-67. doi: 10.1007/s00439-014-1469-6. Epub 2014 Jul 19.

PMID:
25037250
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.

Eur J Pediatr. 2015 Feb;174(2):267-70. doi: 10.1007/s00431-014-2370-y. Epub 2014 Jul 10.

PMID:
25009317
8.

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.

Mitochondrion. 2014 Jul;17:101-5. doi: 10.1016/j.mito.2014.06.003. Epub 2014 Jun 20.

PMID:
24956508
9.

Genetic causes of male infertility.

Stouffs K, Seneca S, Lissens W.

Ann Endocrinol (Paris). 2014 May;75(2):109-11. doi: 10.1016/j.ando.2014.03.004. Epub 2014 Apr 24.

PMID:
24768008
10.

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. 2015 Jan;23(1):41-8. doi: 10.1038/ejhg.2014.49. Epub 2014 Mar 26.

PMID:
24667782
11.

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L.

Eur J Paediatr Neurol. 2013 Nov;17(6):625-30. doi: 10.1016/j.ejpn.2013.05.013. Epub 2013 Jun 28.

PMID:
23816342
12.

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

Buján N, Arias A, Montero R, García-Villoria J, Lissens W, Seneca S, Espinós C, Navas P, De Meirleir L, Artuch R, Briones P, Ribes A.

J Inherit Metab Dis. 2014 Jan;37(1):53-62. doi: 10.1007/s10545-013-9620-4. Epub 2013 Jun 18.

PMID:
23774949
13.

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
14.

Human embryonic stem cells commonly display large mitochondrial DNA deletions.

Van Haute L, Spits C, Geens M, Seneca S, Sermon K.

Nat Biotechnol. 2013 Jan;31(1):20-3. doi: 10.1038/nbt.2473. No abstract available.

PMID:
23302926
15.

Natural zeolite permeable treatment wall for removing Sr-90 from groundwater.

Seneca SM, Rabideau AJ.

Environ Sci Technol. 2013 Feb 5;47(3):1550-6. doi: 10.1021/es304008r. Epub 2013 Jan 17.

PMID:
23276160
16.

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.

Losekoot M, van Belzen MJ, Seneca S, Bauer P, Stenhouse SA, Barton DE; European Molecular Genetic Quality Network (EMQN).

Eur J Hum Genet. 2013 May;21(5):480-6. doi: 10.1038/ejhg.2012.200. Epub 2012 Sep 19.

17.

Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time.

Seneca S, Lissens W, Endels K, Caljon B, Bonduelle M, Keymolen K, De Rademaeker M, Ullmann U, Haentjens P, Van Berkel K, Van Dooren S.

J Mol Diagn. 2012 Nov;14(6):560-8. doi: 10.1016/j.jmoldx.2012.05.003. Epub 2012 Aug 23.

18.

DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease.

Kasapkara CS, Tümer L, Küçükçongar A, Hasanoğlu A, Seneca S, De Meirleir L.

J Pediatr Gastroenterol Nutr. 2013 Nov;57(5):e28-9. doi: 10.1097/MPG.0b013e31826bd4ed. No abstract available.

PMID:
22868686
19.

Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations.

Martindale JE, Seneca S, Wieczorek S, Sequeiros J.

Hum Mutat. 2012 Sep;33(9):1359-65. doi: 10.1002/humu.22156. Epub 2012 Aug 1.

PMID:
22753119
20.

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
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