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A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation.
ESC Heart Fail. 2020 Dec;7(6):4326-4335. doi: 10.1002/ehf2.12993. Epub 2020 Oct 20.
ESC Heart Fail. 2020.
PMID: 33084224
Free PMC article.
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.
Sci Rep. 2017 Jun 13;7(1):3362. doi: 10.1038/s41598-017-03189-8.
Sci Rep. 2017.
PMID: 28611399
Free PMC article.
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A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
Truszkowska GT, Bilińska ZT, Kosińska J, Śleszycka J, Rydzanicz M, Sobieszczańska-Małek M, Franaszczyk M, Bilińska M, Stawiński P, Michalak E, Małek ŁA, Chmielewski P, Foss-Nieradko B, Machnicki MM, Stokłosa T, Ponińska J, Szumowski Ł, Grzybowski J, Piwoński J, Drygas W, Zieliński T, Płoski R.
Truszkowska GT, et al.
BMC Med Genet. 2015 Apr 3;16:21. doi: 10.1186/s12881-015-0167-0.
BMC Med Genet. 2015.
PMID: 25928149
Free PMC article.
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A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy-A Possible Role of a Low Penetrance NLRP3 Variant.
Chmielewski P, Truszkowska GT, Kukla P, Zakrzewska-Koperska J, Śpiewak M, Stępień-Wojno M, Bilińska M, Lutyńska A, Płoski R, Bilińska ZT.
Chmielewski P, et al. Among authors: truszkowska gt.
Diagnostics (Basel). 2020 Nov 16;10(11):955. doi: 10.3390/diagnostics10110955.
Diagnostics (Basel). 2020.
PMID: 33207704
Free PMC article.
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