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New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. Among authors: jurkiewicz e. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
MRI of a family with leukoencephalypathy with vanishing white matter.
Jurkiewicz E, Mierzewska H, Bekiesińska-Figatowska M, Pakua-Kościesza I, Kmieć T, Scheper G, van der Knaap MS, Pronicka E. Jurkiewicz E, et al. Pediatr Radiol. 2005 Oct;35(10):1027-30. doi: 10.1007/s00247-005-1498-3. Epub 2005 May 24. Pediatr Radiol. 2005. PMID: 15912409
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: jurkiewicz e. Clin Genet. 2009 Aug;76(2):195-204. doi: 10.1111/j.1399-0004.2009.01195.x. Clin Genet. 2009. PMID: 19780766
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: jurkiewicz e. Folia Neuropathol. 2011;49(1):56-63. Folia Neuropathol. 2011. PMID: 21455844 Free article.
Proton MR Spectroscopy in Patients with Leigh Syndrome.
Jurkiewicz E, Chełstowska S, Pakuła-Kościesza I, Malczyk K, Nowak K, Bekiesińska-Figatowska M, Sykut-Cegielska J, Piekutowska-Abramczuk D, Pronicka E. Jurkiewicz E, et al. Neuroradiol J. 2011 Jun 30;24(3):424-8. doi: 10.1177/197140091102400312. Epub 2011 Jun 24. Neuroradiol J. 2011. PMID: 24059666
"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.
Buda P, Piekutowska-Abramczuk D, Karkucińska-Więckowska A, Jurkiewicz E, Chełstowska S, Pajdowska M, Migdał M, Książyk J, Kotulska K, Pronicka E. Buda P, et al. Among authors: jurkiewicz e. Folia Neuropathol. 2013;51(4):347-54. doi: 10.5114/fn.2013.39726. Folia Neuropathol. 2013. PMID: 24374964 Free article.
Leigh disease due to SCO2 mutations revealed at extended autopsy.
Szymanska-Debinska T, Karkucinska-Wieckowska A, Piekutowska-Abramczuk D, Jurkiewicz E, Iwanicka-Pronicka K, Rokicki D, Pronicki M. Szymanska-Debinska T, et al. Among authors: jurkiewicz e. J Clin Pathol. 2015 May;68(5):397-9. doi: 10.1136/jclinpath-2014-202606. Epub 2015 Feb 26. J Clin Pathol. 2015. PMID: 25720770 No abstract available.
Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours.
Łastowska M, Jurkiewicz E, Trubicka J, Daszkiewicz P, Drogosiewicz M, Malczyk K, Grajkowska W, Matyja E, Cukrowska B, Pronicki M, Perek-Polnik M, Perek D, Dembowska-Bagińska B. Łastowska M, et al. Among authors: jurkiewicz e. J Neurooncol. 2015 May;123(1):65-73. doi: 10.1007/s11060-015-1779-0. Epub 2015 Apr 11. J Neurooncol. 2015. PMID: 25862008 Free PMC article.
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Płoski R, Krajewska-Walasek M, Pronicka E. Jezela-Stanek A, et al. Among authors: jurkiewicz e. Eur J Paediatr Neurol. 2016 May;20(3):462-73. doi: 10.1016/j.ejpn.2016.01.007. Epub 2016 Feb 4. Eur J Paediatr Neurol. 2016. PMID: 26879448
170 results