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Page 1
Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?
Chmielewski P, Michalak E, Kowalik I, Franaszczyk M, Sobieszczanska-Malek M, Truszkowska G, Stepien-Wojno M, Biernacka EK, Foss-Nieradko B, Lewandowski M, Oreziak A, Bilinska M, Kusmierczyk M, Tesson F, Grzybowski J, Zielinski T, Ploski R, Bilinska ZT. Chmielewski P, et al. Among authors: truszkowska g. J Clin Med. 2020 May 12;9(5):1443. doi: 10.3390/jcm9051443. J Clin Med. 2020. PMID: 32408651 Free PMC article.
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.
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
Poninska JK, Bilinska ZT, Franaszczyk M, Michalak E, Rydzanicz M, Szpakowski E, Pollak A, Milanowska B, Truszkowska G, Chmielewski P, Sioma A, Janaszek-Sitkowska H, Klisiewicz A, Michalowska I, Makowiecka-Ciesla M, Kolsut P, Stawinski P, Foss-Nieradko B, Szperl M, Grzybowski J, Hoffman P, Januszewicz A, Kusmierczyk M, Ploski R. Poninska JK, et al. Among authors: truszkowska g. J Transl Med. 2016 May 4;14(1):115. doi: 10.1186/s12967-016-0870-4. J Transl Med. 2016. PMID: 27146836 Free PMC article.
Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.
Franaszczyk M, Chmielewski P, Truszkowska G, Stawinski P, Michalak E, Rydzanicz M, Sobieszczanska-Malek M, Pollak A, Szczygieł J, Kosinska J, Parulski A, Stoklosa T, Tarnowska A, Machnicki MM, Foss-Nieradko B, Szperl M, Sioma A, Kusmierczyk M, Grzybowski J, Zielinski T, Ploski R, Bilinska ZT. Franaszczyk M, et al. Among authors: truszkowska g. PLoS One. 2017 Jan 3;12(1):e0169007. doi: 10.1371/journal.pone.0169007. eCollection 2017. PLoS One. 2017. PMID: 28045975 Free PMC article.
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
Szymańska E, Szymańska S, Truszkowska G, Ciara E, Pronicki M, Shin YS, Podskarbi T, Kępka A, Śpiewak M, Płoski R, Bilińska ZT, Rokicki D. Szymańska E, et al. Among authors: truszkowska g. Arch Med Sci. 2018 Jan;14(1):237-247. doi: 10.5114/aoms.2018.72246. Epub 2017 Dec 19. Arch Med Sci. 2018. PMID: 29379554 Free PMC article. No abstract available.
Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.
Zakrzewska-Koperska J, Franaszczyk M, Bilińska Z, Truszkowska G, Karczmarz M, Szumowski Ł, Zieliński T, Płoski R, Bilińska M. Zakrzewska-Koperska J, et al. Among authors: truszkowska g. BMC Med Genet. 2018 Jun 5;19(1):94. doi: 10.1186/s12881-018-0599-4. BMC Med Genet. 2018. PMID: 29871609 Free PMC article.
Sudden cardiac arrest in patients without overt heart disease: a limited value of next generation sequencing.
Stępień-Wojno M, Ponińska J, Rydzanicz M, Bilińska M, Truszkowska G, Baranowski R, Lutyńska A, Biernacka EK, Stępińska J, Kowalik I, Płoski R, Bilińska ZT. Stępień-Wojno M, et al. Among authors: truszkowska g. Pol Arch Intern Med. 2018 Dec 21;128(12):721-730. doi: 10.20452/pamw.4366. Epub 2018 Nov 7. Pol Arch Intern Med. 2018. PMID: 30403391 Free article.
Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.
Franaszczyk M, Truszkowska G, Chmielewski P, Rydzanicz M, Kosinska J, Rywik T, Biernacka A, Spiewak M, Kostrzewa G, Stepien-Wojno M, Stawinski P, Bilinska M, Krajewski P, Zielinski T, Lutynska A, Bilinska ZT, Ploski R. Franaszczyk M, et al. Among authors: truszkowska g. J Clin Med. 2020 Jan 29;9(2):370. doi: 10.3390/jcm9020370. J Clin Med. 2020. PMID: 32013205 Free PMC article.
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, Cesar S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada R, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Lopez-Sainz A, et al. J Am Coll Cardiol. 2020 Jul 14;76(2):186-197. doi: 10.1016/j.jacc.2020.05.029. J Am Coll Cardiol. 2020. PMID: 32646569 Free article.
24 results