Płoski R - Search Results

1

Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes.

Ługowska A, Hetmańczyk-Sawicka K, Iwanicka-Nowicka R, Fogtman A, Cieśla J, Purzycka-Olewiecka JK, Sitarska D, Płoski R, Filocamo M, Lualdi S, Bednarska-Makaruk M, Koblowska M. Ługowska A, et al. Among authors: ploski r. Sci Rep. 2019 Apr 15;9(1):6060. doi: 10.1038/s41598-019-42584-1. Sci Rep. 2019. PMID: 30988500 Free PMC article.

2

Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.

Ługowska A, Wlodarski P, Płoski R, Mierzewska H, Dudzińska M, Matheisel A, Swietochowska H, Tylki-Szymańska A. Ługowska A, et al. Among authors: ploski r. Clin Genet. 2009 Jan;75(1):57-64. doi: 10.1111/j.1399-0004.2008.01108.x. Epub 2008 Nov 17. Clin Genet. 2009. PMID: 19021637

3

Molecular bases of metachromatic leukodystrophy in Polish patients.

Lugowska A, Płoski R, Włodarski P, Tylki-Szymańska A. Lugowska A, et al. Among authors: ploski r. J Hum Genet. 2010 Jun;55(6):394-6. doi: 10.1038/jhg.2010.25. Epub 2010 Mar 26. J Hum Genet. 2010. PMID: 20339381

4

Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?

Ługowska A, Ponińska J, Krajewski P, Broda G, Płoski R. Ługowska A, et al. Among authors: ploski r. PLoS One. 2011;6(6):e20218. doi: 10.1371/journal.pone.0020218. Epub 2011 Jun 10. PLoS One. 2011. PMID: 21695197 Free PMC article.

5

The association between 38 previously reported polymorphisms and psoriasis in a Polish population: High predicative accuracy of a genetic risk score combining 16 loci.

Kisiel B, Kisiel K, Szymański K, Mackiewicz W, Biało-Wójcicka E, Uczniak S, Fogtman A, Iwanicka-Nowicka R, Koblowska M, Kossowska H, Placha G, Sykulski M, Bachta A, Tłustochowicz W, Płoski R, Kaszuba A. Kisiel B, et al. Among authors: ploski r. PLoS One. 2017 Jun 15;12(6):e0179348. doi: 10.1371/journal.pone.0179348. eCollection 2017. PLoS One. 2017. PMID: 28617847 Free PMC article. Clinical Trial.

6

Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.

Ługowska A, Purzycka-Olewiecka JK, Płoski R, Truszkowska G, Pronicki M, Felczak P, Śpiewak M, Podlecka-Piętowska A, Sitek M, Bilińska ZT, Leszek P, Bednarska-Makaruk M. Ługowska A, et al. Among authors: ploski r. Life (Basel). 2021 Dec 21;12(1):3. doi: 10.3390/life12010003. Life (Basel). 2021. PMID: 35054396 Free PMC article.

7

Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.

Lipiński P, Szczałuba K, Buda P, Zakharova EY, Baydakova G, Ługowska A, Różdzyńska-Świątkowska A, Cyske Z, Węgrzyn G, Pollak A, Płoski R, Tylki-Szymańska A. Lipiński P, et al. Among authors: ploski r. Int J Mol Sci. 2022 Sep 28;23(19):11424. doi: 10.3390/ijms231911424. Int J Mol Sci. 2022. PMID: 36232726 Free PMC article.

8

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R. Mierzewska H, et al. Among authors: ploski r. Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2. Clin Genet. 2017. PMID: 27102849

9

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen.

Lechowicz U, Gambin T, Pollak A, Podgorska A, Stawinski P, Franke A, Petersen BS, Firczuk M, Oldak M, Skarzynski H, Ploski R. Lechowicz U, et al. Among authors: ploski r. Sci Rep. 2017 May 31;7(1):2543. doi: 10.1038/s41598-017-02315-w. Sci Rep. 2017. PMID: 28566687 Free PMC article.

10

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.

Truszkowska GT, Bilińska ZT, Muchowicz A, Pollak A, Biernacka A, Kozar-Kamińska K, Stawiński P, Gasperowicz P, Kosińska J, Zieliński T, Płoski R. Truszkowska GT, et al. Among authors: ploski r. Sci Rep. 2017 Jun 13;7(1):3362. doi: 10.1038/s41598-017-03189-8. Sci Rep. 2017. PMID: 28611399 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

475 results

Search Page