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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

241 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
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: kamsteeg ej. 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.
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
van den Bersselaar LR, Jungbluth H, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Malagon I, van Eijk LT, van Alfen N, van Engelen BGM, Scheffer GJ, Snoeck MMJ, Voermans NC. van den Bersselaar LR, et al. Among authors: kamsteeg ej. Brain Commun. 2022 Nov 10;4(6):fcac292. doi: 10.1093/braincomms/fcac292. eCollection 2022. Brain Commun. 2022. PMID: 36751502 Free PMC article.
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
van den Bersselaar LR, van Alfen N, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Yang CY, Malagon I, van Eijk LT, van Engelen BGM, Scheffer GJ, Jungbluth H, Snoeck MMJ, Voermans NC. van den Bersselaar LR, et al. Among authors: kamsteeg ej. J Neuromuscul Dis. 2023;10(4):541-554. doi: 10.3233/JND-230018. J Neuromuscul Dis. 2023. PMID: 37154182 Free PMC article.
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: kamsteeg ej. 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.
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: kamsteeg ej. J Neuromuscul Dis. 2023;10(6):1055-1074. doi: 10.3233/JND-221673. J Neuromuscul Dis. 2023. PMID: 37807786 Free PMC article.
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.
van Kleef ESB, Bouman K, Molenaar JPF, de Winter JM, Duijkers FAM, Eftimov F, Verschuuren-Bemelmans CC, van der Laan T, Küsters B, Malfatti E, Kamsteeg EJ, van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC. van Kleef ESB, et al. Among authors: kamsteeg ej. J Neuromuscul Dis. 2024 Sep 4. doi: 10.3233/JND-230196. Online ahead of print. J Neuromuscul Dis. 2024. PMID: 39240645
The FGF14 gene is a milestone in ataxia genetics.
van de Warrenburg BP, Kamsteeg EJ. van de Warrenburg BP, et al. Among authors: kamsteeg ej. EBioMedicine. 2024 Feb;100:104994. doi: 10.1016/j.ebiom.2024.104994. Epub 2024 Feb 1. EBioMedicine. 2024. PMID: 38301484 Free PMC article. No abstract available.
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.
van Prooije TH, Pennings M, Dorresteijn L, Gardeitchik T, Odekerken VJJ, Oosterloo M, Pedersen A, Verschuuren-Bemelmans CC, Vrancken A, Kamsteeg EJ, van de Warrenburg BPC. van Prooije TH, et al. Among authors: kamsteeg ej. Mov Disord. 2024 Sep;39(9):1636-1640. doi: 10.1002/mds.29912. Epub 2024 Jul 7. Mov Disord. 2024. PMID: 38973070
Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families.
van de Pol M, O'Gorman L, Corominas-Galbany J, Cliteur M, Derks R, Verbeek NE, van de Warrenburg B, Kamsteeg EJ. van de Pol M, et al. Among authors: kamsteeg ej. Mov Disord. 2023 Aug;38(8):1555-1556. doi: 10.1002/mds.29441. Epub 2023 May 11. Mov Disord. 2023. PMID: 37165958 No abstract available.
241 results