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DWORF Extends Life Span in a PLN-R14del Cardiomyopathy Mouse Model by Reducing Abnormal Sarcoplasmic Reticulum Clusters.
Circ Res. 2023 Dec 8;133(12):1006-1021. doi: 10.1161/CIRCRESAHA.123.323304. Epub 2023 Nov 13.
Circ Res. 2023.
PMID: 37955153
Free PMC article.
The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.
Eijgenraam TR, Boukens BJ, Boogerd CJ, Schouten EM, van de Kolk CWA, Stege NM, Te Rijdt WP, Hoorntje ET, van der Zwaag PA, van Rooij E, van Tintelen JP, van den Berg MP, van der Meer P, van der Velden J, Silljé HHW, de Boer RA.
Eijgenraam TR, et al. Among authors: stege nm.
Sci Rep. 2020 Jun 17;10(1):9819. doi: 10.1038/s41598-020-66656-9.
Sci Rep. 2020.
PMID: 32555305
Free PMC article.
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Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy.
Eijgenraam TR, Boukens BJ, Boogerd CJ, Schouten EM, van de Kolk CWA, Stege NM, Te Rijdt WP, Hoorntje ET, van der Zwaag PA, van Rooij E, van Tintelen JP, van den Berg MP, van der Meer P, van der Velden J, Silljé HHW, de Boer RA.
Eijgenraam TR, et al. Among authors: stege nm.
Sci Rep. 2020 Oct 2;10(1):16710. doi: 10.1038/s41598-020-70780-x.
Sci Rep. 2020.
PMID: 33009422
Free PMC article.
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The Time Has Come to Explore Plasma Biomarkers in Genetic Cardiomyopathies.
Stege NM, de Boer RA, van den Berg MP, Silljé HHW.
Stege NM, et al.
Int J Mol Sci. 2021 Mar 14;22(6):2955. doi: 10.3390/ijms22062955.
Int J Mol Sci. 2021.
PMID: 33799487
Free PMC article.
Review.
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Protein Aggregation Is an Early Manifestation of Phospholamban p.(Arg14del)-Related Cardiomyopathy: Development of PLN-R14del-Related Cardiomyopathy.
Eijgenraam TR, Boogerd CJ, Stege NM, Oliveira Nunes Teixeira V, Dokter MM, Schmidt LE, Yin X, Theofilatos K, Mayr M, van der Meer P, van Rooij E, van der Velden J, Silljé HHW, de Boer RA.
Eijgenraam TR, et al. Among authors: stege nm.
Circ Heart Fail. 2021 Nov;14(11):e008532. doi: 10.1161/CIRCHEARTFAILURE.121.008532. Epub 2021 Sep 30.
Circ Heart Fail. 2021.
PMID: 34587756
Free PMC article.
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Antisense Therapy Attenuates Phospholamban p.(Arg14del) Cardiomyopathy in Mice and Reverses Protein Aggregation.
Eijgenraam TR, Stege NM, Oliveira Nunes Teixeira V, de Brouwer R, Schouten EM, Grote Beverborg N, Sun L, Später D, Knöll R, Hansson KM, Amilon C, Janzén D, Yeh ST, Mullick AE, van der Meer P, de Boer RA, Silljé HHW.
Eijgenraam TR, et al. Among authors: stege nm.
Int J Mol Sci. 2022 Feb 22;23(5):2427. doi: 10.3390/ijms23052427.
Int J Mol Sci. 2022.
PMID: 35269571
Free PMC article.
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Deletion of DWORF does not affect cardiac function in aging and in PLN-R14del cardiomyopathy.
Stege NM, Oliveira Nunes Teixeira V, Zijlstra SN, Feringa AM, de Boer RA, Silljé HHW.
Stege NM, et al.
Am J Physiol Heart Circ Physiol. 2024 Mar 1;326(3):H870-H876. doi: 10.1152/ajpheart.00741.2023. Epub 2024 Feb 9.
Am J Physiol Heart Circ Physiol. 2024.
PMID: 38334971
Free article.
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