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Page 1
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Stenton SL, Tesarova M, Sheremet NL, Catarino CB, Carelli V, Ciara E, Curry K, Engvall M, Fleming LR, Freisinger P, Iwanicka-Pronicka K, Jurkiewicz E, Klopstock T, Koenig MK, Kolářová H, Kousal B, Krylova T, La Morgia C, Nosková L, Piekutowska-Abramczuk D, Russo SN, Stránecký V, Tóthová I, Träisk F, Prokisch H. Stenton SL, et al. Among authors: tothova i. Brain. 2022 Jun 3;145(5):1624-1631. doi: 10.1093/brain/awac052. Brain. 2022. PMID: 35148383 Free PMC article.
Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.
Priganc M, Zigová M, Boroňová I, Bernasovská J, Dojčáková D, Szabadosová V, Mydlárová Blaščáková M, Tóthová I, Kmec J, Bernasovský I. Priganc M, et al. Among authors: tothova i. J Clin Lab Anal. 2017 Mar;31(2):e22037. doi: 10.1002/jcla.22037. Epub 2016 Aug 24. J Clin Lab Anal. 2017. PMID: 27554632 Free PMC article.