Maciej Robert Krawczyński - Search Results

Year	Number of Results
2011	1
2012	1
2013	1
2018	1
2020	2
2021	1
2022	2
2023	1
2024	2

1

Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study.

Fischer MD, Simonelli F, Sahni J, Holz FG, Maier R, Fasser C, Suhner A, Stiehl DP, Chen B, Audo I, Leroy BP; PERCEIVE Study Group. Fischer MD, et al. Biomolecules. 2024 Jan 17;14(1):122. doi: 10.3390/biom14010122. Biomolecules. 2024. PMID: 38254722 Free PMC article.

2

Standard therapy or additionally radioactive iodine (131I) therapy; which will stop the recurrence of glioblastoma multiforme (GBM)?

Czarnywojtek A, Gut P, Dyrka K, Sowiński J, Sawicka-Gutaj N, Katulska K, Stajgis P, Wykrętowicz M, Moskal J, Kościński J, Pietrończyk K, Graczyk P, Krawczyński MR, Florek E, Szczepanek-Parulska E, Ruchała M, Ferlito A. Czarnywojtek A, et al. Among authors: krawczynski mr. Endokrynol Pol. 2024;75(2):130-139. doi: 10.5603/ep.98240. Epub 2024 Apr 22. Endokrynol Pol. 2024. PMID: 38646982 Free article. Review.

3

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

Skorczyk-Werner A, Sowińska-Seidler A, Wawrocka A, Walczak-Sztulpa J, Krawczyński MR. Skorczyk-Werner A, et al. Among authors: krawczynski mr. J Appl Genet. 2023 Feb;64(1):89-104. doi: 10.1007/s13353-022-00733-9. Epub 2022 Nov 12. J Appl Genet. 2023. PMID: 36369640 Free PMC article.

4

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).

Skorczyk-Werner A, Niedziela Z, Stopa M, Krawczyński MR. Skorczyk-Werner A, et al. Among authors: krawczynski mr. Orphanet J Rare Dis. 2020 Dec 11;15(1):345. doi: 10.1186/s13023-020-01634-y. Orphanet J Rare Dis. 2020. PMID: 33308271 Free PMC article.

5

Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family.

Pojda-Wilczek D, Wójcik J, Kmak B, Krawczyński MR. Pojda-Wilczek D, et al. Among authors: krawczynski mr. Diagnostics (Basel). 2022 Nov 5;12(11):2701. doi: 10.3390/diagnostics12112701. Diagnostics (Basel). 2022. PMID: 36359543 Free PMC article.

6

PAX6 3' deletion in a family with aniridia.

Wawrocka A, Budny B, Debicki S, Jamsheer A, Sowinska A, Krawczynski MR. Wawrocka A, et al. Among authors: krawczynski mr. Ophthalmic Genet. 2012 Mar;33(1):44-8. doi: 10.3109/13816810.2011.615076. Epub 2011 Oct 10. Ophthalmic Genet. 2012. PMID: 21985185

7

Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.

Skorczyk-Werner A, Wawrocka A, Kochalska N, Krawczynski MR. Skorczyk-Werner A, et al. Among authors: krawczynski mr. Orphanet J Rare Dis. 2018 Dec 12;13(1):221. doi: 10.1186/s13023-018-0965-5. Orphanet J Rare Dis. 2018. PMID: 30541579 Free PMC article.

8

The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing.

Skorczyk-Werner A, Raczynska D, Wawrocka A, Zholdybayeva D, Yakhiyayeva N, Krawczynski MR. Skorczyk-Werner A, et al. Among authors: krawczynski mr. Intractable Rare Dis Res. 2021 Aug;10(3):202-206. doi: 10.5582/irdr.2021.01042. Intractable Rare Dis Res. 2021. PMID: 34466343 Free PMC article.

9

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

Wawrocka A, Walczak-Sztulpa J, Bukowska-Olech E, Jamsheer A, Jaworski M, Jaworski P, Krawczynski MR. Wawrocka A, et al. Among authors: krawczynski mr. Jpn J Ophthalmol. 2020 Mar;64(2):134-139. doi: 10.1007/s10384-020-00715-6. Epub 2020 Feb 3. Jpn J Ophthalmol. 2020. PMID: 32016663

10

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome.

Badura-Stronka M, Wawrocka A, Zawieja K, Silska S, Krawczyński MR. Badura-Stronka M, et al. Among authors: krawczynski mr. Mitochondrion. 2013 Nov;13(6):831-4. doi: 10.1016/j.mito.2013.05.011. Epub 2013 Jun 6. Mitochondrion. 2013. PMID: 23748049

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