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SURF1 missense mutations promote a mild Leigh phenotype.
Piekutowska-Abramczuk D, Magner M, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielska J, Kmiec T, Jurkiewicz E, Szymanska-Debinska T, Bielecka L, Krajewska-Walasek M, Vesela K, Zeman J, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: pronicki m. Clin Genet. 2009 Aug;76(2):195-204. doi: 10.1111/j.1399-0004.2009.01195.x. Clin Genet. 2009. PMID: 19780766
Oxidative stress in metabolic dysfunction-associated steatotic liver disease (MASLD): How does the animal model resemble human disease?
Jakubek P, Kalinowski P, Karkucinska-Wieckowska A, Kaikini A, Simões ICM, Potes Y, Kruk B, Grajkowska W, Pinton P, Milkiewicz P, Grąt M, Pronicki M, Lebiedzinska-Arciszewska M, Krawczyk M, Wieckowski MR. Jakubek P, et al. Among authors: pronicki m. FASEB J. 2024 Feb 15;38(3):e23466. doi: 10.1096/fj.202302447R. FASEB J. 2024. PMID: 38318780
Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.
Wasniewska M, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Zablocki K, Popowska E, Pronicka E, Duszyński J. Wasniewska M, et al. Among authors: pronicki m. Biochem Biophys Res Commun. 2001 May 11;283(3):687-93. doi: 10.1006/bbrc.2001.4834. Biochem Biophys Res Commun. 2001. PMID: 11341780
[MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes].
Mierzewska H, Mroczek K, Pronicki M, Pronicka E, Karczmarewicz E, Bartnik E, Zdzienicka E, Seniów J, Schmidt-Sidor B, Taraszewska A, Palasik W. Mierzewska H, et al. Among authors: pronicki m. Neurol Neurochir Pol. 2002 May-Jun;36(3):457-70. Neurol Neurochir Pol. 2002. PMID: 12185802 Polish.
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.
Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J. Böhm M, et al. Among authors: pronicki m. Pediatr Res. 2006 Jan;59(1):21-6. doi: 10.1203/01.pdr.0000190572.68191.13. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16326995
97 results