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KBTBD13 is a novel cardiomyopathy gene.
de Winter JM, Bouman K, Strom J, Methawasin M, Jongbloed JDH, van der Roest W, Wijngaarden JV, Timmermans J, Nijveldt R, van den Heuvel F, Kamsteeg EJ, van Engelen BG, Galli R, Bogaards SJP, Boon RA, van der Pijl RJ, Granzier H, Koeleman B, Amin AS, van der Velden J, van Tintelen JP, van den Berg MP, van Spaendonck-Zwarts KY, Voermans NC, Ottenheijm CAC. de Winter JM, et al. Among authors: voermans nc. Hum Mutat. 2022 Dec;43(12):1860-1865. doi: 10.1002/humu.24499. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36335629 Free PMC article.
Caffeine and muscle cramps: a stimulating connection.
Molema MM, Dekker MC, Voermans NC, van Engelen BG, Aarnoutse RE. Molema MM, et al. Among authors: voermans nc. Am J Med. 2007 Aug;120(8):e1-2. doi: 10.1016/j.amjmed.2006.07.035. Am J Med. 2007. PMID: 17679106 Clinical Trial. No abstract available.
Computer-aided visualization of muscle weakness distribution.
Pieterse AJ, Voermans NC, Tuinenga HS, van Engelen BG. Pieterse AJ, et al. Among authors: voermans nc. J Neurol. 2008 Nov;255(11):1670-8. doi: 10.1007/s00415-008-0959-7. Epub 2008 Sep 3. J Neurol. 2008. PMID: 18769861
Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome.
Ottenheijm CA, Voermans NC, Hudson BD, Irving T, Stienen GJ, van Engelen BG, Granzier H. Ottenheijm CA, et al. Among authors: voermans nc. J Appl Physiol (1985). 2012 Apr;112(7):1157-65. doi: 10.1152/japplphysiol.01166.2011. Epub 2012 Jan 5. J Appl Physiol (1985). 2012. PMID: 22223454 Free PMC article.
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Løseth S, Voermans NC, Torbergsen T, Lillis S, Jonsrud C, Lindal S, Kamsteeg EJ, Lammens M, Broman M, Dekomien G, Maddison P, Muntoni F, Sewry C, Radunovic A, de Visser M, Straub V, van Engelen B, Jungbluth H. Løseth S, et al. Among authors: voermans nc. J Neurol. 2013 Jun;260(6):1504-10. doi: 10.1007/s00415-012-6817-7. Epub 2013 Jan 18. J Neurol. 2013. PMID: 23329375
245 results