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NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA. Piekutowska-Abramczuk D, et al. Among authors: feichtinger rg. Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429571 Free PMC article.
Lack of complex I is associated with oncocytic thyroid tumours.
Zimmermann FA, Mayr JA, Neureiter D, Feichtinger R, Alinger B, Jones ND, Eder W, Sperl W, Kofler B. Zimmermann FA, et al. Br J Cancer. 2009 May 5;100(9):1434-7. doi: 10.1038/sj.bjc.6605028. Epub 2009 Apr 7. Br J Cancer. 2009. PMID: 19352385 Free PMC article.
Loss of mitochondria in ganglioneuromas.
Feichtinger RG, Neureiter D, Mayr JA, Zimmermann FA, Berthold F, Jones N, Sperl W, Kofler B. Feichtinger RG, et al. Front Biosci (Elite Ed). 2011 Jan 1;3(1):179-86. doi: 10.2741/e231. Front Biosci (Elite Ed). 2011. PMID: 21196296 Free article.
109 results