Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2018 2
2021 3
2022 4
2023 6
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Page 1
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.
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.
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.
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
Bachmann C, Franchini M, Van den Bersselaar LR, Kruijt N, Voermans NC, Bouman K, Kamsteeg EJ, Knop KC, Ruggiero L, Santoro L, Nevo Y, Wilmshurst J, Vissing J, Sinnreich M, Zorzato D, Muntoni F, Jungbluth H, Zorzato F, Treves S. Bachmann C, et al. Among authors: bouman k. Brain Commun. 2022 Sep 2;4(5):fcac224. doi: 10.1093/braincomms/fcac224. eCollection 2022. Brain Commun. 2022. PMID: 36196089 Free PMC article.
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Reumers SFI, Erasmus CE, Bouman K, Pennings M, Schouten M, Kusters B, Duijkers FAM, van der Kooi A, Jaeger B, Verschuuren-Bemelmans CC, Faber CG, van Engelen BG, Kamsteeg EJ, Jungbluth H, Voermans NC. Reumers SFI, et al. Among authors: bouman k. Clin Genet. 2021 Dec;100(6):692-702. doi: 10.1111/cge.14054. Epub 2021 Sep 25. Clin Genet. 2021. PMID: 34463354 Free PMC article.
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Bouman K, Küsters B, De Winter JM, Gillet C, Van Kleef ESB, Eshuis L, Brochier G, Madelaine A, Labasse C, Boulogne C, Van Engelen BGM, Ottenheijm CAC, Romero NB, Voermans NC, Malfatti E. Bouman K, et al. J Neuropathol Exp Neurol. 2021 Mar 22;80(4):366-376. doi: 10.1093/jnen/nlab012. J Neuropathol Exp Neurol. 2021. PMID: 33693846
16 results