Index | PMID | Date | Reference |
---|---|---|---|
1 | 8739943 | 1996 | Seneca, S., Abramowicz, M., Lissens, W., Muller, M. F., Vamos, E., de Meirleir, L. (1996) A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis Journal of Inherited Metabolic Disease . 19 (2): 115-118 . |
2 | 12915481 | 2003 | Temperley, R. J., Seneca, S. H., Tonska, K., Bartnik, E., Bindoff, L. A., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M. (2003) Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria Human Molecular Genetics . 12 (18): 2341-2348 . |
3 | 14585098 | 2004 | Chrzanowska-Lightowlers, Z. M., Temperley, R. J., Smith, P. M., Seneca, S. H., Lightowlers, R. N. (2004) Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons Biochemical Journal . 377 (Pt 3): 725-731 . |
4 | 15265003 | 2004 | Jesina, P., Tesarova, M., Fornuskova, D., Vojtiskova, A., Pecina, P., Kaplanova, V., Hansikova, H., Zeman, J., Houstek, J. (2004) Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206 Biochemical Journal . 383 (Pt. 3): 561-571 . |
5 | 16326995 | 2006 | Bohm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J., Mierzewska, H., Hansikova, H., Vesela, K., Tesarova, M., Houstkova, H., Houstek, J., Zeman, J. (2006) Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency Pediatric Research . 59 (1): 21-26 . |
6 | 18221507 | 2008 | Cizkova, A., Stranecky, V., Ivanek, R., Hartmannova, H., Noskova, L., Piherova, L., Tesarova, M., Hansikova, H., Honzik, T., Zeman, J., Divina, P., Potocka, A., Paul, J., Sperl, W., Mayr, J. A., Seneca, S., Houstek, J., Kmoch, S. (2008) Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency BMC Genomics . 9 (-): 38 . |
7 | 18620007 | 2009 | Kucharczyk, R., Zick, M., Bietenhader, M., Rak, M., Couplan, E., Blondel, M., Caubet, S. D., di Rago, J. P. (2009) Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches Biochimica et Biophysica Acta . 1793 (1): 186-199 . |
8 | 24667782 | 2015 | Seneca, S., Vancampenhout, K., Van Coster, R., Smet, J., Lissens, W., Vanlander, A., De Paepe, B., Jonckheere, A., Stouffs, K., De Meirleir, L. (2015) Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? European Journal of Human Genetics . 23 (1): 41-48 . |
9 | 30763462 | 2019 | Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 . |