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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. Among authors: juanola falgarona m. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. Barca E, et al. Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231. Hum Mol Genet. 2018. PMID: 29917077 Free PMC article.
Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography.
Siegmund SE, Grassucci R, Carter SD, Barca E, Farino ZJ, Juanola-Falgarona M, Zhang P, Tanji K, Hirano M, Schon EA, Frank J, Freyberg Z. Siegmund SE, et al. Among authors: juanola falgarona m. iScience. 2018 Aug 31;6:83-91. doi: 10.1016/j.isci.2018.07.014. Epub 2018 Jul 20. iScience. 2018. PMID: 30240627 Free PMC article.
Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice.
Kubota A, Juanola-Falgarona M, Emmanuele V, Sanchez-Quintero MJ, Kariya S, Sera F, Homma S, Tanji K, Quinzii CM, Hirano M. Kubota A, et al. Among authors: juanola falgarona m. Hum Mol Genet. 2019 Jan 15;28(2):209-219. doi: 10.1093/hmg/ddy299. Hum Mol Genet. 2019. PMID: 30260394 Free PMC article.
Monitoring SARS-CoV-2 genetic variability: A post-market surveillance workflow for combined bioinformatic and laboratory evaluation of commercial RT-PCR assay performance.
Kosińska-Selbi B, Kowalczyk J, Pierscińska J, Wełeszczuk J, Peñarrubia L, Turner B, Pareja J, Porco R, Diaz-Hernandez R, Juanola-Falgarona M, Rey M, Manissero D, Blacha A. Kosińska-Selbi B, et al. Among authors: juanola falgarona m. PLoS One. 2024 Jan 12;19(1):e0294271. doi: 10.1371/journal.pone.0294271. eCollection 2024. PLoS One. 2024. PMID: 38215170 Free PMC article.
Evaluation of the QIAstat-Dx Meningitis/Encephalitis Panel, a multiplex PCR platform for the detection of community-acquired meningoencephalitis.
Sundelin T, Bialas J, de Diego J, Hermanowski M, Leibhan H, Ponderand L, Juanola-Falgarona M, Jones T, Rey M, Johnson S, Pareja J, Caspar Y. Sundelin T, et al. Among authors: juanola falgarona m. J Clin Microbiol. 2023 Oct 24;61(10):e0042623. doi: 10.1128/jcm.00426-23. Epub 2023 Sep 13. J Clin Microbiol. 2023. PMID: 37702495 Free PMC article.
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