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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: jurkiewicz e. Clin Genet. 2009 Aug;76(2):195-204. doi: 10.1111/j.1399-0004.2009.01195.x. Clin Genet. 2009. PMID: 19780766
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
Non-neuronopathic Gaucher disease due to saposin C deficiency.
Tylki-Szymańska A, Czartoryska B, Vanier MT, Poorthuis BJ, Groener JA, Ługowska A, Millat G, Vaccaro AM, Jurkiewicz E. Tylki-Szymańska A, et al. Among authors: jurkiewicz e. Clin Genet. 2007 Dec;72(6):538-42. doi: 10.1111/j.1399-0004.2007.00899.x. Epub 2007 Oct 7. Clin Genet. 2007. PMID: 17919309
Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.
Kaczorowska M, Jurkiewicz E, Domańska-Pakieła D, Syczewska M, Lojszczyk B, Chmielewski D, Kotulska K, Kuczyński D, Kmieć T, Dunin-Wąsowicz D, Kasprzyk-Obara J, Jóźwiak S. Kaczorowska M, et al. Among authors: jurkiewicz e. Epilepsia. 2011 Jan;52(1):22-7. doi: 10.1111/j.1528-1167.2010.02892.x. Epub 2011 Jan 4. Epilepsia. 2011. PMID: 21204819 Free 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: jurkiewicz e. Folia Neuropathol. 2011;49(1):56-63. Folia Neuropathol. 2011. PMID: 21455844 Free article.
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H. Hartig MB, et al. Among authors: jurkiewicz e. Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007. Am J Hum Genet. 2011. PMID: 21981780 Free PMC article.
Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
Kotulska K, Chmielewski D, Borkowska J, Jurkiewicz E, Kuczyński D, Kmieć T, Łojszczyk B, Dunin-Wąsowicz D, Jóźwiak S. Kotulska K, et al. Among authors: jurkiewicz e. Eur J Paediatr Neurol. 2013 Sep;17(5):479-85. doi: 10.1016/j.ejpn.2013.03.002. Epub 2013 Apr 6. Eur J Paediatr Neurol. 2013. PMID: 23567018
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
170 results