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

20 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. Among authors: stunnenberg bc. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype.
Bednarz M, Stunnenberg BC, Kusters B, Kamsteeg EJ, Saris CG, Groome J, Winston V, Meola G, Jurkat-Rott K, Voermans NC. Bednarz M, et al. Among authors: stunnenberg bc. Neuromuscul Disord. 2017 Feb;27(2):175-182. doi: 10.1016/j.nmd.2016.09.023. Epub 2016 Oct 19. Neuromuscul Disord. 2017. PMID: 28024841
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.
Stunnenberg BC, Raaphorst J, Deenen JCW, Links TP, Wilde AA, Verbove DJ, Kamsteeg EJ, van den Wijngaard A, Faber CG, van der Wilt GJ, van Engelen BGM, Drost G, Ginjaar HB. Stunnenberg BC, et al. Neuromuscul Disord. 2018 May;28(5):402-407. doi: 10.1016/j.nmd.2018.03.006. Epub 2018 Mar 9. Neuromuscul Disord. 2018. PMID: 29606556
Myotonic discharges discriminate chloride from sodium muscle channelopathies.
Drost G, Stunnenberg BC, Trip J, Borm G, McGill KC, Ginjaar IH, van der Kooi AW, Zwarts MJ, van Engelen BG, Faber CG, Stegeman DF, Lateva Z. Drost G, et al. Among authors: stunnenberg bc. Neuromuscul Disord. 2015 Jan;25(1):73-80. doi: 10.1016/j.nmd.2014.09.014. Epub 2014 Oct 6. Neuromuscul Disord. 2015. PMID: 25454733
N-of-1 trial of salbutamol in hyperkalaemic periodic paralysis.
Stunnenberg BC, Merkus EC, Raaphorst J, Saris CG, Groenewoud H, Statland J, Weijma R, van Vlijmen B, Griggs R, van Engelen BGM, van der Wilt GJ. Stunnenberg BC, et al. J Neurol Neurosurg Psychiatry. 2021 Dec;92(12):1352-1353. doi: 10.1136/jnnp-2021-326347. Epub 2021 Jun 10. J Neurol Neurosurg Psychiatry. 2021. PMID: 34112717 No abstract available.
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.
Stunnenberg BC, Raaphorst J, Groenewoud HM, Statland JM, Griggs RC, Woertman W, Stegeman DF, Timmermans J, Trivedi J, Matthews E, Saris CGJ, Schouwenberg BJ, Drost G, van Engelen BGM, van der Wilt GJ. Stunnenberg BC, et al. JAMA. 2018 Dec 11;320(22):2344-2353. doi: 10.1001/jama.2018.18020. JAMA. 2018. PMID: 30535218 Free PMC article.
Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.
Stunnenberg BC, Woertman W, Raaphorst J, Statland JM, Griggs RC, Timmermans J, Saris CG, Schouwenberg BJ, Groenewoud HM, Stegeman DF, van Engelen BG, Drost G, van der Wilt GJ. Stunnenberg BC, et al. BMC Neurol. 2015 Mar 25;15:43. doi: 10.1186/s12883-015-0294-4. BMC Neurol. 2015. PMID: 25880166 Free PMC article. Clinical Trial.
20 results