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Page 1
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Cottenie E, et al. Among authors: bartsakoulia m. Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439726 Free PMC article.
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmüller H, Boycott KM, Müller JS, Horvath R. Boczonadi V, et al. Among authors: bartsakoulia m. Hum Mol Genet. 2018 Jun 15;27(12):2187-2204. doi: 10.1093/hmg/ddy127. Hum Mol Genet. 2018. PMID: 29648643 Free PMC article.
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.
Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R. Bartsakoulia M, et al. Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033. Hum Mol Genet. 2018. PMID: 29361167 Free PMC article.
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R. Pyle A, et al. Among authors: bartsakoulia m. J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003. J Neuromuscul Dis. 2014. PMID: 26380172 Free PMC article.
Estimating the Effectiveness of DPYD Genotyping in Italian Individuals Suffering from Cancer Based on the Cost of Chemotherapy-Induced Toxicity.
Fragoulakis V, Roncato R, Fratte CD, Ecca F, Bartsakoulia M, Innocenti F, Toffoli G, Cecchin E, Patrinos GP, Mitropoulou C. Fragoulakis V, et al. Among authors: bartsakoulia m. Am J Hum Genet. 2019 Jun 6;104(6):1158-1168. doi: 10.1016/j.ajhg.2019.04.017. Epub 2019 May 30. Am J Hum Genet. 2019. PMID: 31155283 Free PMC article.
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.
Mitropoulos K, Merkouri Papadima E, Xiromerisiou G, Balasopoulou A, Charalampidou K, Galani V, Zafeiri KV, Dardiotis E, Ralli S, Deretzi G, John A, Kydonopoulou K, Papadopoulou E, di Pardo A, Akcimen F, Loizedda A, Dobričić V, Novaković I, Kostić VS, Mizzi C, Peters BA, Basak N, Orrù S, Kiskinis E, Cooper DN, Gerou S, Drmanac R, Bartsakoulia M, Tsermpini EE, Hadjigeorgiou GM, Ali BR, Katsila T, Patrinos GP. Mitropoulos K, et al. Among authors: bartsakoulia m. Hum Genomics. 2017 Dec 8;11(1):30. doi: 10.1186/s40246-017-0126-2. Hum Genomics. 2017. PMID: 29216901 Free PMC article.
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies.
Papadopoulos P, Viennas E, Gkantouna V, Pavlidis C, Bartsakoulia M, Ioannou ZM, Ratbi I, Sefiani A, Tsaknakis J, Poulas K, Tzimas G, Patrinos GP. Papadopoulos P, et al. Among authors: bartsakoulia m. Nucleic Acids Res. 2014 Jan;42(Database issue):D1020-6. doi: 10.1093/nar/gkt1125. Epub 2013 Nov 14. Nucleic Acids Res. 2014. PMID: 24234438 Free PMC article.
KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients.
Borg J, Phylactides M, Bartsakoulia M, Tafrali C, Lederer C, Felice AE, Papachatzopoulou A, Kourakli A, Stavrou EF, Christou S, Hou J, Karkabouna S, Lappa-Manakou C, Ozgur Z, van Ijcken W, von Lindern M, Grosveld FG, Georgitsi M, Kleanthous M, Philipsen S, Patrinos GP. Borg J, et al. Among authors: bartsakoulia m. Pharmacogenomics. 2012 Oct;13(13):1487-500. doi: 10.2217/pgs.12.125. Pharmacogenomics. 2012. PMID: 23057549
19 results