| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 16217706 | 2005 | Moslemi, A. R., Darin, N., Tulinius, M., Oldfors, A., Holme, E. (2005) Two new mutations in the MTATP6 gene associated with Leigh syndrome Neuropediatrics . 36 (5): 314-8 . |
| 2 | 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 . |
| 3 | 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 . |