Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
- 13 resultaten
Zoekresultaten
-
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., sep 2012, In: Eur. J. Paediatr. Neurol.. 16, 5, blz. 542-548 7 blz.Onderzoeksoutput: Article › peer review
21 Citaten (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, blz. 79-82 4 blz.Onderzoeksoutput: Article › peer review
12 Citaten (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, blz. 741-747 7 blz.Onderzoeksoutput: Article › peer review
20 Citaten (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, blz. 930-941 12 blz.Onderzoeksoutput: Article › peer review
56 Citaten (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, blz. 4099-4109 11 blz.Onderzoeksoutput: Article › peer review
17 Citaten (Scopus) -
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.
Dermaut, B., Seneca, S., Dom, L., Smet, J., De Paepe, B., Tousseyn, S., Weckhuysen, S., Gewillig, M., Pals, P., Parizel, P., De Bleecker, J., Boon, P., De Meirleir, L., De Jonghe, P., Vancoster, R., Van Paesschen, W. & Santens, P., jan 2010, In: J Neurol Neurosurg Psychiatry. 81, blz. 90-93 4 blz.Onderzoeksoutput: Article › peer review
34 Citaten (Scopus) -
Ptosisas an associated finding in maternally inherited diabetes and deafness.
Robberecht, K., De Cock, C., Stevens, A., Seneca, S., De Bleecker, J. & Leroy, B., 1 dec 2010, In: Ophthalmic Genet.. 31, blz. 240-243 4 blz.Onderzoeksoutput: Article › peer review
8 Citaten (Scopus) -
2009
Abdominal pain and vomiting as first sign of mitochondrial disease.
Van Biervliet, S., Verloo, P., Vande Veldel, S., Van Winckel, M., Smet, J., Seneca, S., De Meirleir, L. & Vancoster, R., jul 2009, In: Acta Gastro-Enterol Belg. 72, July-September, blz. 365-368 4 blz.Onderzoeksoutput: Article › peer review
9 Citaten (Scopus) -
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.
Ramos-Arroyo, M. A., Hualde, J., Ayechu, A., De Meirleir, L., Seneca, S., Nadal, N. & Briones, P., 2009, In: Clin Genet. 75, June, blz. 585-587 3 blz.Onderzoeksoutput: Article › peer review
33 Citaten (Scopus) -
Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.
De Paepe, B., Smet, J., Lammens, M., Seneca, S., Martin, J-J., De Bleecker, J., De Meirleir, L., Lissens, W. & Van Coster, R., feb 2009, In: J Clin Pathol. 62, February, blz. 172-176 6 blz.Onderzoeksoutput: Article › peer review
15 Citaten (Scopus) -
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, blz. 317-322 6 blz.Onderzoeksoutput: Article › peer review
5 Citaten (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 blz., 4.Onderzoeksoutput: Article › peer review
16 Citaten (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., okt 2009, In: Electrophoresis. 30, October, blz. 3565-3572 8 blz.Onderzoeksoutput: Article › peer review
27 Citaten (Scopus)