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Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.
Reinson K, Kovacs-Nagy R, Õiglane-Shlik E, Pajusalu S, Nõukas M, Wintjes LT, van den Brandt FCA, Brink M, Acker T, Ahting U, Hahn A, Schänzer A, Haack TB, Rodenburg RJ, Õunap K. Reinson K, et al. Among authors: rodenburg rj. Eur J Med Genet. 2019 Nov;62(11):103572. doi: 10.1016/j.ejmg.2018.11.006. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423443
Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.
Ugalde C, Hinttala R, Timal S, Smeets R, Rodenburg RJ, Uusimaa J, van Heuvel LP, Nijtmans LG, Majamaa K, Smeitink JA. Ugalde C, et al. Among authors: rodenburg rj. Mol Genet Metab. 2007 Jan;90(1):10-4. doi: 10.1016/j.ymgme.2006.08.003. Epub 2006 Sep 22. Mol Genet Metab. 2007. PMID: 16996290
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA. Smeitink JA, et al. Among authors: rodenburg rj. Am J Hum Genet. 2006 Nov;79(5):869-77. doi: 10.1086/508434. Epub 2006 Sep 15. Am J Hum Genet. 2006. PMID: 17033963 Free PMC article.
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen AJ, Diepstra JH, van den Brandt FC, van den Heuvel LP, Hol FA, Hofste TG, Kapusta L, Dillmann U, Shamdeen MG, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Among authors: rodenburg rj. J Med Genet. 2008 Mar;45(3):129-33. doi: 10.1136/jmg.2007.052084. Epub 2007 Oct 22. J Med Genet. 2008. PMID: 17954552
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP. Janssen AJ, et al. Among authors: rodenburg rj. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232
257 results