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A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen AJ, Diepstra JH, van den Brandt FC, van den Heuvel LP, Hol FA, Hofste TG, Kapusta L, Dillmann U, Shamdeen MG, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Among authors: kapusta l. J Med Genet. 2008 Mar;45(3):129-33. doi: 10.1136/jmg.2007.052084. Epub 2007 Oct 22. J Med Genet. 2008. PMID: 17954552
Interobserver, intraobserver and intrapatient reliability scores of myocardial strain imaging with 2-d echocardiography in patients treated with anthracyclines.
Mavinkurve-Groothuis AM, Weijers G, Groot-Loonen J, Pourier M, Feuth T, de Korte CL, Hoogerbrugge PM, Kapusta L. Mavinkurve-Groothuis AM, et al. Among authors: kapusta l. Ultrasound Med Biol. 2009 Apr;35(4):697-704. doi: 10.1016/j.ultrasmedbio.2008.09.026. Epub 2008 Dec 21. Ultrasound Med Biol. 2009. PMID: 19097680
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere AI, Hogeveen M, Nijtmans L, van den Brand M, Janssen A, Diepstra H, van den Brandt F, van den Heuvel B, Hol F, Hofste T, Kapusta L, Dillmann U, Shamdeen M, Smeitink J, Smeitink J, Rodenburg R. Jonckheere AI, et al. Among authors: kapusta l. BMJ Case Rep. 2009;2009:bcr07.2008.0504. doi: 10.1136/bcr.07.2008.0504. Epub 2009 Jan 23. BMJ Case Rep. 2009. PMID: 21686774 Free PMC article.
Cardiac evaluation in children with Prader-Willi syndrome.
Marcus KA, van Alfen-van der Velden JA, Otten BJ, Weijers G, Yntema HG, de Korte CL, Kapusta L. Marcus KA, et al. Among authors: kapusta l. Acta Paediatr. 2012 May;101(5):e225-31. doi: 10.1111/j.1651-2227.2011.02570.x. Epub 2012 Jan 10. Acta Paediatr. 2012. PMID: 22181352
Symptomatic lipid storage in carriers for the PNPLA2 gene.
Janssen MC, van Engelen B, Kapusta L, Lammens M, van Dijk M, Fischer J, van der Graaf M, Wevers RA, Fahrleitner M, Zimmermann R, Morava E. Janssen MC, et al. Among authors: kapusta l. Eur J Hum Genet. 2013 Aug;21(8):807-15. doi: 10.1038/ejhg.2012.256. Epub 2012 Dec 12. Eur J Hum Genet. 2013. PMID: 23232698 Free PMC article.
Longitudinal Myocardial Deformation Does Not Predict Single Ventricle Ejection Fraction Assessed by Cardiac Magnetic Resonance Imaging in Children with a Total Cavopulmonary Connection.
Koopman LP, Geerdink LM, Bossers SSM, Duppen N, Kuipers IM, Ten Harkel AD, van Iperen G, Weijers G, de Korte C, Helbing WA, Kapusta L. Koopman LP, et al. Among authors: kapusta l. Pediatr Cardiol. 2018 Feb;39(2):283-293. doi: 10.1007/s00246-017-1753-z. Epub 2017 Oct 25. Pediatr Cardiol. 2018. PMID: 29071373 Free PMC article.
177 results