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

Year Number of Results
2002 1
2005 1
2008 1
2009 1
2010 1
2011 2
2012 3
2013 3
2014 4
2015 2
2016 1
2017 4
2018 2
2019 3
2020 3
2021 1
2022 2
2023 1
2024 0

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31 results

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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: verschuuren bemelmans cc. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
Central 22q11.2 deletions.
Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM. Rump P, et al. Among authors: verschuuren bemelmans cc. Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25123976
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.
van Egmond ME, Kuiper A, Eggink H, Sinke RJ, Brouwer OF, Verschuuren-Bemelmans CC, Sival DA, Tijssen MA, de Koning TJ. van Egmond ME, et al. Among authors: verschuuren bemelmans cc. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):774-81. doi: 10.1136/jnnp-2014-309106. Epub 2014 Nov 13. J Neurol Neurosurg Psychiatry. 2015. PMID: 25395479 Review.
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F, Alimohamed MZ, Vilacha JF, Van Dijk KK, De Boer-Bergsma J, Fokkens MR, Lemmink H, Sijmons RH, Sikkema-Raddatz B, Groves MR, Verschuuren-Bemelmans CC, Verbeek DS, Van Diemen CC, Westers H. Ghorbani F, et al. Among authors: verschuuren bemelmans cc. Front Genet. 2022 Mar 25;13:782685. doi: 10.3389/fgene.2022.782685. eCollection 2022. Front Genet. 2022. PMID: 35401678 Free PMC article.
De novo SPAST mutations may cause a complex SPG4 phenotype.
Schieving JH, de Bot ST, van de Pol LA, Wolf NI, Brilstra EH, Frints SG, van Gaalen J, Misra-Isrie M, Pennings M, Verschuuren-Bemelmans CC, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA. Schieving JH, et al. Among authors: verschuuren bemelmans cc. Brain. 2019 Jul 1;142(7):e31. doi: 10.1093/brain/awz140. Brain. 2019. PMID: 31157359 No abstract available.
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: verschuuren bemelmans cc. 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.
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Ghorbani F, de Boer-Bergsma J, Verschuuren-Bemelmans CC, Pennings M, de Boer EN, Kremer B, Vanhoutte EK, de Vries JJ, van de Berg R, Kamsteeg EJ, van Diemen CC, Westers H, van de Warrenburg BP, Verbeek DS. Ghorbani F, et al. Among authors: verschuuren bemelmans cc. J Neurol. 2022 Nov;269(11):6086-6093. doi: 10.1007/s00415-022-11275-9. Epub 2022 Jul 21. J Neurol. 2022. PMID: 35864213 Free PMC article.
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Donkervoort S, Mohassel P, Laugwitz L, Zaki MS, Kamsteeg EJ, Maroofian R, Chao KR, Verschuuren-Bemelmans CC, Horber V, Fock AJM, McCarty RM, Jain MS, Biancavilla V, McMacken G, Nalls M, Voermans NC, Elbendary HM, Snyder M, Cai C, Lehky TJ, Stanley V, Iannaccone ST, Foley AR, Lochmüller H, Gleeson J, Houlden H, Haack TB, Horvath R, Bönnemann CG. Donkervoort S, et al. Among authors: verschuuren bemelmans cc. Am J Med Genet A. 2020 Oct;182(10):2272-2283. doi: 10.1002/ajmg.a.61765. Epub 2020 Aug 10. Am J Med Genet A. 2020. PMID: 32776697 Free PMC article.
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.
Ghorbani F, de Boer EN, Benjamins-Stok M, Verschuuren-Bemelmans CC, Knapper J, de Boer-Bergsma J, de Vries JJ, Sikkema-Raddatz B, Verbeek DS, Westers H, van Diemen CC. Ghorbani F, et al. Among authors: verschuuren bemelmans cc. Neurol Genet. 2023 Feb 2;9(1):e200050. doi: 10.1212/NXG.0000000000200050. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 38058854 Free PMC article.
31 results