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Results: 1 to 20 of 99

1.

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. 2014 Sep 18;113C:38-56. doi: 10.1016/j.jprot.2014.09.007. [Epub ahead of print]

PMID:
25239759
[PubMed - as supplied by publisher]
2.

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
[PubMed - in process]
3.

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. 2014 Jul 10. [Epub ahead of print]

PMID:
25009317
[PubMed - as supplied by publisher]
4.

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
[PubMed - in process]
5.

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
[PubMed - in process]
6.

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]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
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.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
22990145
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
22921311
[PubMed - indexed for MEDLINE]
Free Article
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[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.

Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L.

Eur J Paediatr Neurol. 2012 Sep;16(5):542-8. doi: 10.1016/j.ejpn.2012.01.013. Epub 2012 Feb 17.

PMID:
22342071
[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.

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

Kiliç M, Sivri HS, Dursun A, Tokatli A, De Meirleir L, Seneca S, Akçören Z, Yiğit S, Topaloğlu H, Coşkun T.

Turk J Pediatr. 2011 Jan-Feb;53(1):79-82.

PMID:
21534344
[PubMed - indexed for MEDLINE]
Free Article
20.

Complex III staining in blue native polyacrylamide gels.

Smet J, De Paepe B, Seneca S, Lissens W, Kotarsky H, De Meirleir L, Fellman V, Van Coster R.

J Inherit Metab Dis. 2011 Jun;34(3):741-7. doi: 10.1007/s10545-011-9315-7. Epub 2011 Apr 12.

PMID:
21484424
[PubMed - indexed for MEDLINE]

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