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Grażyna T. Truszkowska

Observed names: G Truszkowska, G. Truszkowska, Grazyna Truszkowska, Grażyna T Truszkowska, Grażyna Truszkowska, Truszkowska, G., Truszkowska, Grażyna
ORCID: 0000-0002-9577-5145
Observed ORCID: 0000-0002-9577-5145
OpenAlex ID: A5069033141
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis
2020 · Angela Lopez-Sainz, Fernando Dominguez, et al. · Journal of the American College of Cardiology · 115
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Natural History of MYH7-Related Dilated Cardiomyopathy
2022 · Fernando de Frutos, Juan Pablo Ochoa, et al. · Journal of the American College of Cardiology · 101
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Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations
2017 · Maria Franaszczyk, Przemyslaw Chmielewski, et al. · PLoS ONE · 91
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Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure
2021 · Mohammed Majid Akhtar, Massimiliano Lorenzini, et al. · JAMA Cardiology · 82
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations
2016 · J. K. Poninska, Z. T. Bilinska, et al. · Journal of Translational Medicine · 63
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Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
2017 · Grażyna T. Truszkowska, Zofia T. Bilińska, et al. · Scientific Reports · 43
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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
2015 · Grażyna T Truszkowska, Zofia T Bilińska, et al. · BMC Medical Genetics · 36
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Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities
2018 · Edyta Szymańska, Sylwia Szymańska, et al. · Archives of Medical Science · 33
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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
2018 · Joanna Zakrzewska-Koperska, Maria Franaszczyk, et al. · BMC Medical Genetics · 30
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A novel risk model for predicting potentially life-threatening arrhythmias in non-ischemic dilated cardiomyopathy (DCM-SVA risk)
2021 · Elham Kayvanpour, Arjan Sammani, et al. · International Journal of Cardiology · 29
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Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?
2020 · Przemyslaw Chmielewski, Ewa Michalak, et al. · Journal of Clinical Medicine · 23
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A Combination of Quinidine/Mexiletine Reduces Arrhythmia in Dilated Cardiomyopathy in two Patients with R814W SCN5A Mutation
2020 · Joanna Zakrzewska-Koperska, Zofia T. Bilińska, et al. · ESC Heart Failure · 20
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Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes
2020 · Maria Franaszczyk, Grazyna Truszkowska, et al. · Journal of Clinical Medicine · 20
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Sudden cardiac arrest in patients without overt heart disease: limited value of next generation sequencing
2018 · Małgorzata Stępień-Wojno, Joanna Ponińska, et al. · Polskie Archiwum Medycyny Wewnętrznej · 16
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Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections
2022 · Joanna Kinga Ponińska, Zofia Teresa Bilińska, et al. · Journal of Translational Medicine · 11
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Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment
2021 · Przemysław Chmielewski, Grażyna Truszkowska, et al. · Diagnostics · 11
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Cardiovascular involvement and prognosis in Loeys-Dietz syndrome
2023 · Przemysław Chmielewski, Joanna K Ponińska, et al. · Kardiologia Polska · 10
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A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy
2024 · Magda Franke, Tomasz Marcin Książczyk, et al. · Frontiers in Genetics · 8
Pregnancy in women with dilated cardiomyopathy genetic variants
2024 · María Alejandra Restrepo-Córdoba, Przemyslaw Chmielewski, et al. · Revista Española de Cardiología (English Edition) · 7
Rare transthyretin gene variants (p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys and p.Phe53Leu): diagnostic pitfalls and clinical characteristics of Polish patients with transthyretin cardiac amyloidosis
2024 · Monika Gawor-Prokopczyk, Marta Lipowska, et al. · Polskie Archiwum Medycyny Wewnętrznej · 6
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Clinical features, etiology and survival in patients with restrictive cardiomyopathy: A single center experience
2023 · Justyna A Szczygieł, Piotr Michałek, et al. · Kardiologia Polska · 6
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PRKAG2 Syndrome: Clinical Features, Imaging Findings and Cardiac Events
2025 · Maria Sudomir, Przemysław Chmielewski, et al. · Biomedicines · 5
Clinical and genetic yield of familial screening after a sudden unexplained death at a young age
2024 · Przemysław Chmielewski, Michał Świerczewski, et al. · Kardiologia Polska · 5
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Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy
2021 · Agnieszka Ługowska, Joanna K. Purzycka-Olewiecka, et al. · Life · 4
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Multicenter study of patients with transthyretin cardiac amyloidosis in Poland: Clinical characteristics, genotyping, electrocardiographic features, outcome predictors, and tafamidis treatment outcomes
2025 · Monika Gawor-Prokopczyk, Jacek Grzybowski, et al. · Kardiologia Polska · 3
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Works count: 39
Citation count: 789
H-index: 14
I10-index: 17
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