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Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy.
Fałek O, Wesół-Kucharska D, Starostecka E, Rokicki D, Fortecka-Piestrzeniewicz K, Kępczyński Ł, Piekutowska-Abramczuk D, Ciara E, Maroszyńska I. Fałek O, et al. Among authors: ciara e. Genes (Basel). 2024 Sep 30;15(10):1289. doi: 10.3390/genes15101289. Genes (Basel). 2024. PMID: 39457413 Free PMC article.
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.
Wesół-Kucharska D, Greczan M, Kaczor M, Ehmke Vel Emczyńska-Seliga E, Hajdacka M, Czekuć-Kryśkiewicz E, Piekutowska-Abramczuk D, Halat-Wolska P, Ciara E, Jaworski M, Jezela-Stanek A, Rokicki D. Wesół-Kucharska D, et al. Among authors: ciara e. Nutrients. 2024 Mar 13;16(6):812. doi: 10.3390/nu16060812. Nutrients. 2024. PMID: 38542723 Free PMC article.
Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R. Klaniewska M, et al. Among authors: ciara e. Mol Genet Genomic Med. 2023 Dec;11(12):e2265. doi: 10.1002/mgg3.2265. Epub 2023 Sep 1. Mol Genet Genomic Med. 2023. PMID: 37658610 Free PMC article.
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M. Neřoldová M, et al. Among authors: ciara e. PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023. PLoS One. 2023. PMID: 37471416 Free PMC article.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S. Vogel GF, et al. Among authors: ciara e. Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37272928 Free article. No abstract available.
105 results