Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

47 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.
Pronicki M, Kowalski P, Piekutowska-Abramczuk D, Taybert J, Karkucinska-Wieckowska A, Szymanska-Debinska T, Karczmarewicz E, Pajdowska M, Migdal M, Milewska-Bobula B, Sykut-Cegielska J, Popowska E. Pronicki M, et al. Eur J Paediatr Neurol. 2010 May;14(3):253-60. doi: 10.1016/j.ejpn.2009.09.008. Epub 2009 Oct 29. Eur J Paediatr Neurol. 2010. PMID: 19879173
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. Folia Neuropathol. 2011;49(1):56-63. Folia Neuropathol. 2011. PMID: 21455844 Free article.
p66Shc aging protein in control of fibroblasts cell fate.
Suski JM, Karkucinska-Wieckowska A, Lebiedzinska M, Giorgi C, Szczepanowska J, Szabadkai G, Duszynski J, Pronicki M, Pinton P, Wieckowski MR. Suski JM, et al. Int J Mol Sci. 2011;12(8):5373-89. doi: 10.3390/ijms12085373. Epub 2011 Aug 22. Int J Mol Sci. 2011. PMID: 21954365 Free PMC article. Review.
Disrupted ATP synthase activity and mitochondrial hyperpolarisation-dependent oxidative stress is associated with p66Shc phosphorylation in fibroblasts of NARP patients.
Lebiedzinska M, Karkucinska-Wieckowska A, Wojtala A, Suski JM, Szabadkai G, Wilczynski G, Wlodarczyk J, Diogo CV, Oliveira PJ, Tauber J, Ježek P, Pronicki M, Duszynski J, Pinton P, Wieckowski MR. Lebiedzinska M, et al. Int J Biochem Cell Biol. 2013 Jan;45(1):141-50. doi: 10.1016/j.biocel.2012.07.020. Epub 2012 Jul 31. Int J Biochem Cell Biol. 2013. PMID: 22885148
47 results