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Medulloblastoma with transitional features between Group 3 and Group 4 is associated with good prognosis.
Łastowska M, Trubicka J, Niemira M, Paczkowska-Abdulsalam M, Karkucińska-Więckowska A, Kaleta M, Drogosiewicz M, Perek-Polnik M, Krętowski A, Cukrowska B, Grajkowska W, Dembowska-Bagińska B, Matyja E. Łastowska M, et al. J Neurooncol. 2018 Jun;138(2):231-240. doi: 10.1007/s11060-018-2797-5. Epub 2018 Feb 9. J Neurooncol. 2018. PMID: 29427151 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.
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.
Karkucinska-Wieckowska A, Trubicka J, Werner B, Kokoszynska K, Pajdowska M, Pronicki M, Czarnowska E, Lebiedzinska M, Sykut-Cegielska J, Ziolkowska L, Jaron W, Dobrzanska A, Ciara E, Wieckowski MR, Pronicka E. Karkucinska-Wieckowska A, et al. J Inherit Metab Dis. 2013 Nov;36(6):929-37. doi: 10.1007/s10545-013-9584-4. Epub 2013 Jan 30. J Inherit Metab Dis. 2013. PMID: 23361305 Free PMC article.
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Ciara E, Rokicki D, Halat P, Karkucińska-Więckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymańska-Dębińska T, Pronicki M, Pajdowska M, Dudzińska M, Giżewska M, Krajewska-Walasek M, Książyk J, Sperl W, Płoski R, Pronicka E. Ciara E, et al. Mol Genet Metab Rep. 2016 Apr 18;7:70-6. doi: 10.1016/j.ymgmr.2016.03.004. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27144126 Free PMC article.
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. 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.
ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients.
Łastowska M, Trubicka J, Niemira M, Paczkowska-Abdulsalam M, Karkucińska-Więckowska A, Kaleta M, Drogosiewicz M, Tarasińska M, Perek-Polnik M, Krętowski A, Dembowska-Bagińska B, Grajkowska W, Pronicki M, Matyja E. Łastowska M, et al. Am J Surg Pathol. 2017 Jun;41(6):781-787. doi: 10.1097/PAS.0000000000000847. Am J Surg Pathol. 2017. PMID: 28338501
47 results