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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: van den heuvel f. 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.
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, van Tilburg WCM, Buckens SCFM, Dittrich ATM, Draaisma JMT, Janssen MCH, Kamsteeg EJ, van Kleef ESB, Koene S, Smeitink JAM, Küsters B, van Tienen FHJ, Smeets HJM, van Engelen BGM, Erasmus CE, Voermans NC. Bouman K, et al. Among authors: van den heuvel fma, van kleef esb, van alfen n, van engelen bgm, van tienen fhj, van tilburg wcm. BMC Neurol. 2021 Aug 12;21(1):313. doi: 10.1186/s12883-021-02336-z. BMC Neurol. 2021. PMID: 34384384 Free PMC article.
Case report: epipericardial fat necrosis-a rare cause of chest pain.
van den Heuvel FMA, Dimitriu-Leen AC, Habets J, Nijveldt R. van den Heuvel FMA, et al. Eur Heart J Case Rep. 2021 Dec 31;6(1):ytab529. doi: 10.1093/ehjcr/ytab529. eCollection 2022 Jan. Eur Heart J Case Rep. 2021. PMID: 35106443 Free PMC article.
Long-term outcomes for females with early-onset dystrophinopathy.
Houwen-van Opstal SLS, Tak RO, Pelsma M, van den Heuvel FMA, van Duyvenvoorde HA, Cup EHC, Sie LTL, Vles JSH, de Groot IJM, Voermans NC, Willemsen MAAP. Houwen-van Opstal SLS, et al. Among authors: van den heuvel fma. Dev Med Child Neurol. 2023 Aug;65(8):1093-1104. doi: 10.1111/dmcn.15496. Epub 2022 Dec 23. Dev Med Child Neurol. 2023. PMID: 36562406
LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC. Bouman K, et al. Among authors: van den heuvel fma. Neurol Genet. 2023 Jul 19;9(5):e200089. doi: 10.1212/NXG.0000000000200089. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37476021 Free PMC article.
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC. Bouman K, et al. Among authors: van den heuvel fma. J Neuromuscul Dis. 2023;10(6):1055-1074. doi: 10.3233/JND-221673. J Neuromuscul Dis. 2023. PMID: 37807786 Free PMC article.
146 results