Research output per year
Research output per year
- 10 results
Search results
-
2015
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., 2015, In: Eur J Hum Genet. 23, p. 41-48Research output: Contribution to journal › Article › peer-review
36 Citations (Scopus) -
2013
Use of next generation sequencing (NGS) in mitochondrial (mt) disorders: whole mitochondrial genome analysis
Seneca, S., Vancampenhout, K., Van Dyck, G., Smet, J., Vanlander, A., Van Coster, R., Daneels, D., Lissens, W., Bonduelle, M.-L. & De Meirleir, L., 22 Oct 2013, Abstractbook of American Society of Human Genetics 63rd Annual Meeting. p. 321-321 1 p. 2330FResearch output: Chapter in Book/Report/Conference proceeding › Meeting abstract (Book)
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2012
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., François, B., Schlesser, P., Stevens, R., Nuttin, C., Martin, J.-J., Vancoster, R., Seneca, S., Roels, F., Van Goethem, G., Löfgren, A. & De Meirleir, L., Sept 2012, In: Eur. J. Paediatr. Neurol.. 16, 5, p. 542-548 7 p.Research output: Contribution to journal › Article › peer-review
22 Citations (Scopus) -
2011
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
Kiliç, M., Sivri, H. S., Dursun, A., Tokatli, A., De Meirleir, L., Seneca, S., Akçören, Z., Yigit, S. & Topaloglu, H., 1 Jan 2011, In: Turk J Pediatr.. 53, p. 79-82 4 p.Research output: Contribution to journal › Article › peer-review
12 Citations (Scopus) -
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., 12 Apr 2011, In: J Inherit Metab Dis. 34, p. 741-747 7 p.Research output: Contribution to journal › Article › peer-review
20 Citations (Scopus) -
2010
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.
Morán, M., Marín-Buera, L., Gil-Borlado, M., Rivera, H., Blázquez, A., Seneca, S., Vázquez-López, M., Arenas, J., Martín, M. A. & Ugalde, C., 2010, In: Hum Mutat. 31, August, p. 930-941 12 p.Research output: Contribution to journal › Article › peer-review
58 Citations (Scopus) -
Defining the pathogenesis of the human ATP12p W94R mutation using a saccharomyces cerevisiae yeast model.
Meulemans, A., Seneca, S., Pribyl, T., Smet, J., Alderweireldt, V., Waeytens, A., Lissens, W., Vancoster, R., De Meirleir, L., Di Rago, J., Gatti, D. & Ackerman, S., 5 Feb 2010, In: J. Biol. Chem.. 285, February, p. 4099-4109 11 p.Research output: Contribution to journal › Article › peer-review
17 Citations (Scopus) -
2009
Lactic acidosis in a newborn with adrenal calcifications.
Zecic, A., Smet, J., De Praeter, C. M., Vanhaesebrouck, P., Viscomi, C., De Paepe, B., Van Den Broecke, C., Martin, J.-J., Zeviani, M., Seneca, S., Lissens, W. & Van Coster, R., 2009, In: Pediatr Res. 66, September, p. 317-322 6 p.Research output: Contribution to journal › Article › peer-review
5 Citations (Scopus) -
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
Roels, F., Verloo, P., Eyskens, F., Baudouin, F., Seneca, S., De Paepe, B., Martin, J.-J., Meersschaut, V. A., Praet, M., Scalais, E., Espeel, M., Smet, J., Van Goethem, G. & Van Coster, R., 5 Jun 2009, In: BMC Clin Pathol. 9, June, 12 p., 4.Research output: Contribution to journal › Article › peer-review
16 Citations (Scopus) -
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. & Vancoster, R., Oct 2009, In: Electrophoresis. 30, October, p. 3565-3572 8 p.Research output: Contribution to journal › Article › peer-review
29 Citations (Scopus)