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145 results

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Page 1
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Küsters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS. Duarri A, et al. Among authors: kusters b. Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700. Ann Neurol. 2012. PMID: 23280838
First patho-anatomical investigation of the brain of a SCA19 patient.
Seidel K, Küsters B, den Dunnen WF, Bouzrou M, Hageman G, Korf HW, Schelhaas HJ, Verbeek D, Rüb U. Seidel K, et al. Among authors: kusters b. Neuropathol Appl Neurobiol. 2014 Aug;40(5):640-4. doi: 10.1111/nan.12128. Neuropathol Appl Neurobiol. 2014. PMID: 24612451 No abstract available.
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ. Snoeck M, et al. Among authors: kusters b. Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11. Eur J Neurol. 2015. PMID: 25960145
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: kusters b. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
Brain tumour diagnostics using a DNA methylation-based classifier as a diagnostic support tool.
Priesterbach-Ackley LP, Boldt HB, Petersen JK, Bervoets N, Scheie D, Ulhøi BP, Gardberg M, Brännström T, Torp SH, Aronica E, Küsters B, den Dunnen WFA, de Vos FYFL, Wesseling P, de Leng WWJ, Kristensen BW. Priesterbach-Ackley LP, et al. Among authors: kusters b. Neuropathol Appl Neurobiol. 2020 Aug;46(5):478-492. doi: 10.1111/nan.12610. Epub 2020 Apr 7. Neuropathol Appl Neurobiol. 2020. PMID: 32072658 Free PMC article.
Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6.
Rietveld A, van Gaalen J, Saris C, Okkersen K, Küsters B, van de Warrenburg B, van Engelen B, Sacconi S, Raaphorst J. Rietveld A, et al. Among authors: kusters b. J Neurol Neurosurg Psychiatry. 2020 Aug;91(8):876-878. doi: 10.1136/jnnp-2020-323270. Epub 2020 Jun 23. J Neurol Neurosurg Psychiatry. 2020. PMID: 32576615
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: kusters b. 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.
TDP-43 accumulation is common in myopathies with rimmed vacuoles.
Küsters B, van Hoeve BJ, Schelhaas HJ, Ter Laak H, van Engelen BG, Lammens M. Küsters B, et al. Acta Neuropathol. 2009 Feb;117(2):209-11. doi: 10.1007/s00401-008-0471-2. Epub 2008 Dec 9. Acta Neuropathol. 2009. PMID: 19066918 No abstract available.
145 results