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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M. Ronchi D, et al. Among authors: gutierrez rios p. Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4. Brain. 2012. PMID: 23043144 Free PMC article.
TK2 mutation presenting as indolent myopathy.
Paradas C, Gutiérrez Ríos P, Rivas E, Carbonell P, Hirano M, DiMauro S. Paradas C, et al. Among authors: gutierrez rios p. Neurology. 2013 Jan 29;80(5):504-6. doi: 10.1212/WNL.0b013e31827f0ff7. Epub 2013 Jan 9. Neurology. 2013. PMID: 23303857 Free PMC article.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Olsen RKJ, et al. Among authors: gutierrez rios p. Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006. Am J Hum Genet. 2016. PMID: 27259049 Free PMC article.
Balanced CoQ6 biosynthesis is required for lifespan and mitophagy in yeast.
González-Mariscal I, Martín-Montalvo A, Ojeda-González C, Rodríguez-Eguren A, Gutiérrez-Ríos P, Navas P, Santos-Ocaña C. González-Mariscal I, et al. Among authors: gutierrez rios p. Microb Cell. 2017 Feb 3;4(2):38-51. doi: 10.15698/mic2017.02.556. Microb Cell. 2017. PMID: 28357388 Free PMC article.
Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach.
Leno-Durán E, Arrabal L, Roldán S, Medina I, Alcántara-Domínguez C, García-Cabrera V, Saiz J, Barbas C, Sánchez MJ, Entrala-Bernal C, Fernández-Rosado F, Lorente JA, Gutierrez-Ríos P, Martínez-Gonzalez LJ. Leno-Durán E, et al. Among authors: gutierrez rios p. Int J Mol Sci. 2024 Sep 9;25(17):9754. doi: 10.3390/ijms25179754. Int J Mol Sci. 2024. PMID: 39273702 Free PMC article.
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