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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: bouman k. 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.
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
Bouman K, Dittrich ATM, Groothuis JT, van Engelen BGM, Janssen MCH, Voermans NC, Draaisma JMT, Erasmus CE. Bouman K, et al. J Neuromuscul Dis. 2023;10(1):1-13. doi: 10.3233/JND-221543. J Neuromuscul Dis. 2023. PMID: 36314217 Free PMC article. Review.
Respiratory features of centronuclear myopathy in the Netherlands.
Bouma S, Cobben N, Bouman K, Gaytant M, van de Biggelaar R, van Doorn J, Reumers SFI, Voet NB, Doorduin J, Erasmus CE, Kamsteeg EJ, Jungbluth H, Wijkstra P, Voermans NC. Bouma S, et al. Among authors: bouman k. Neuromuscul Disord. 2023 Jul;33(7):580-588. doi: 10.1016/j.nmd.2023.06.003. Epub 2023 Jun 11. Neuromuscul Disord. 2023. PMID: 37364426 Free article.
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. Neurol Genet. 2023 Jul 19;9(5):e200089. doi: 10.1212/NXG.0000000000200089. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37476021 Free PMC article.
An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration.
Hubregtse L, Bouman K, Lama C, Lassche S, de Graaf N, Taglietti V, Küsters B, Periou B, Relaix F, van Engelen B, Authier FJ, Voermans NC, Malfatti E. Hubregtse L, et al. Among authors: bouman k. Neuromuscul Disord. 2024 Mar;36:6-15. doi: 10.1016/j.nmd.2024.01.003. Epub 2024 Jan 14. Neuromuscul Disord. 2024. PMID: 38306719 Free article.
Oral ribose supplementation in dystroglycanopathy: A single case study.
Thewissen RMJ, Post MA, Maas DM, Veizaj R, Wagenaar I, Alsady M, Kools J, Bouman K, Zweers H, Meregalli PG, van der Kooi AJ, van Doorn PA, Groothuis JT, Lefeber DJ, Voermans NC. Thewissen RMJ, et al. Among authors: bouman k. JIMD Rep. 2024 Mar 4;65(3):171-181. doi: 10.1002/jmd2.12394. eCollection 2024 May. JIMD Rep. 2024. PMID: 38736632 Free PMC article.
European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
Smeets H, Verbrugge B, Bulbena X, Hristova L, Vogt J, van Beckhoven I; all participants; Patient organizations/patient representatives: LAMA2-Europe, Voor Sara-the Netherlands, ImpulsaT-Spain, LAMA2-France, CMD-Turkey, LAMA2-Bulgaria, Cure-CMD. Smeets H, et al. Neuromuscul Disord. 2024 Mar;36:16-22. doi: 10.1016/j.nmd.2024.01.001. Epub 2024 Jan 9. Neuromuscul Disord. 2024. PMID: 38306718
80 results