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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. Among authors: wilde aa. 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
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?
van der Werf-'t Lam AS, van Haeringen A, Rinnen T, Robles de Medina RM, Wilde AAM, Hennekam RC, Barge-Schaapveld DQCM. van der Werf-'t Lam AS, et al. Eur J Med Genet. 2022 Jan;65(1):104382. doi: 10.1016/j.ejmg.2021.104382. Epub 2021 Nov 5. Eur J Med Genet. 2022. PMID: 34748995
Importance of Systematic Diagnostic Testing in Idiopathic Ventricular Fibrillation: Results From the Dutch iVF Registry.
Groeneveld SA, Verheul LM, van der Ree MH, Mulder BA, Scholten MF, Alings M, van der Voort P, Bootsma M, Evertz R, Balt JC, Yap SC, Doevendans PAFM, Postema PG, Wilde AAM, Volders PGA, Hassink RJ. Groeneveld SA, et al. JACC Clin Electrophysiol. 2023 Mar;9(3):345-355. doi: 10.1016/j.jacep.2022.10.003. Epub 2022 Nov 30. JACC Clin Electrophysiol. 2023. PMID: 36752476 Free article.
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
Jansen M, Schuldt M, van Driel BO, Schmidt AF, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Deprez RHL, Wilde AAM, Jans JJM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Int J Mol Sci. 2023 Feb 17;24(4):4031. doi: 10.3390/ijms24044031. Int J Mol Sci. 2023. PMID: 36835444 Free PMC article.
Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers.
Jansen M, Schmidt AF, Jans JJM, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Lekanne Deprez RH, Wilde AAM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. J Cardiovasc Transl Res. 2023 Dec;16(6):1267-1275. doi: 10.1007/s12265-023-10398-2. Epub 2023 Jun 6. J Cardiovasc Transl Res. 2023. PMID: 37278928 Free PMC article.
Deep neural network-based clustering of deformation curves reveals novel disease features in PLN pathogenic variant carriers.
Taha K, van de Leur RR, Vessies M, Mast TP, Cramer MJ, Cauwenberghs N, Verstraelen TE, de Brouwer R, Doevendans PA, Wilde A, Asselbergs FW, van den Berg MP, D'hooge J, Kuznetsova T, Teske AJ, van Es R. Taha K, et al. Int J Cardiovasc Imaging. 2023 Nov;39(11):2149-2161. doi: 10.1007/s10554-023-02924-9. Epub 2023 Aug 11. Int J Cardiovasc Imaging. 2023. PMID: 37566298 Free PMC article.
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Marsili L, van Lint FHM, Russo F, van Spaendonck-Zwarts KY, Ader F, Bichon ML, Faivre L, Houweling AC, Isidor B, Lekanne Deprez RH, Cox MGPJ, Wilde AAM, Mazel B, Mercier S, Dooijes D, Millat G, Nguyen K, Post JG, Richard P, van de Beek I, Vermeer AMC, Boven L, Jongbloed JDH, van Tintelen JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Marsili L, et al. Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24. Neth Heart J. 2023. PMID: 37488328 Free PMC article.
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Nagyova E, Hoorntje ET, Te Rijdt WP, Bosman LP, Syrris P, Protonotarios A, Elliott PM, Tsatsopoulou A, Mestroni L, Taylor MRG, Sinagra G, Merlo M, Wada Y, Horie M, Mogensen J, Christensen AH, Gerull B, Song L, Yao Y, Fan S, Saguner AM, Duru F, Koskenvuo JW, Cruz Marino T, Tichnell C, Judge DP, Dooijes D, Lekanne Deprez RH, Basso C, Pilichou K, Bauce B, Wilde AAM, Charron P, Fressart V, van der Heijden JF, van den Berg MP, Asselbergs FW, James CA, Jongbloed JDH, Harakalova M, van Tintelen JP. Nagyova E, et al. J Cardiovasc Transl Res. 2023 Dec;16(6):1276-1286. doi: 10.1007/s12265-023-10403-8. Epub 2023 Jul 7. J Cardiovasc Transl Res. 2023. PMID: 37418234 Free PMC article.
Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers.
Lopera-Maya EA, Li S, de Brouwer R, Nolte IM, van Breen J; Netherlands A. C. M./P. L. N. Registry; Lifelines Cohort Study; Jongbloed JDH, Swertz MA, Snieder H, Franke L, Wijmenga C, de Boer RA, Deelen P, van der Zwaag PA, Sanna S. Lopera-Maya EA, et al. J Cardiovasc Transl Res. 2023 Dec;16(6):1251-1266. doi: 10.1007/s12265-022-10347-5. Epub 2023 Jan 9. J Cardiovasc Transl Res. 2023. PMID: 36622581 Free PMC article.
903 results