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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: pronicka e. Clin Genet. 2009 Aug;76(2):195-204. doi: 10.1111/j.1399-0004.2009.01195.x. Clin Genet. 2009. PMID: 19780766
High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.
Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Tylek-Lemanska D, Sykut-Cegielska J, Szymanska-Dembinska T, Bielecka L, Krajewska-Walasek M, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: pronicka e. Eur J Paediatr Neurol. 2009 Mar;13(2):146-53. doi: 10.1016/j.ejpn.2008.03.009. Epub 2008 Jun 26. Eur J Paediatr Neurol. 2009. PMID: 18583168
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
Piekutowska-Abramczuk D, Pronicki M, Strawa K, Karkucińska-Więckowska A, Szymańska-Dębińska T, Fidziańska A, Więckowski MR, Jurkiewicz D, Ciara E, Jankowska I, Sykut-Cegielska J, Krajewska-Walasek M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: pronicka e. Clin Genet. 2014 Jun;85(6):573-7. doi: 10.1111/cge.12228. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829229
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
Pronicka E, Węglewska-Jurkiewicz A, Taybert J, Pronicki M, Szymańska-Dębińska T, Karkucińska-Więckowska A, Jakóbkiewicz-Banecka J, Kowalski P, Piekutowska-Abramczuk D, Pajdowska M, Socha P, Sykut-Cegielska J, Węgrzyn G. Pronicka E, et al. J Appl Genet. 2011 Feb;52(1):61-6. doi: 10.1007/s13353-010-0008-y. Epub 2010 Nov 16. J Appl Genet. 2011. PMID: 21107780 Free PMC article.
Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).
Karkucinska-Wieckowska A, Lebiedzinska M, Jurkiewicz E, Pajdowska M, Trubicka J, Szymanska-Debinska T, Suski J, Pinton P, Duszynski J, Pronicki M, Wieckowski MR, Pronicka E. Karkucinska-Wieckowska A, et al. Among authors: pronicka e. Folia Neuropathol. 2011;49(1):56-63. Folia Neuropathol. 2011. PMID: 21455844 Free article.
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.
Pronicka E, Piekutowska-Abramczuk D, Szymańska-Dębińska T, Bielecka L, Kowalski P, Luczak S, Karkucińska-Więckowska A, Migdał M, Kubalska J, Zimowski J, Jamroz E, Wierzba J, Sykut-Cegielska J, Pronicki M, Zaremba J, Krajewska-Walasek M. Pronicka E, et al. Mitochondrion. 2013 Nov;13(6):810-6. doi: 10.1016/j.mito.2013.05.007. Epub 2013 May 26. Mitochondrion. 2013. PMID: 23719228
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.
Piekutowska-Abramczuk D, Mierzewska H, Bekiesińska-Figatowska M, Ciara E, Trubicka J, Pronicki M, Rokicki D, Rydzanicz M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: pronicka e. Folia Neuropathol. 2016;54(4):405-409. doi: 10.5114/fn.2016.64819. Folia Neuropathol. 2016. PMID: 28139822 Free article.
170 results