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Page 1
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM, de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, van Diemen C, Brunt E, Ippel E, Kremer B, Vlak M, Adir N, Wijmenga C, van de Warrenburg BPC, Franke L, Sinke RJ, Verbeek DS. Nibbeling EAR, et al. Among authors: kremer b. Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251. Brain. 2017. PMID: 29053796
Recent advances in hereditary spinocerebellar ataxias.
van de Warrenburg BP, Sinke RJ, Kremer B. van de Warrenburg BP, et al. Among authors: kremer b. J Neuropathol Exp Neurol. 2005 Mar;64(3):171-80. doi: 10.1093/jnen/64.3.171. J Neuropathol Exp Neurol. 2005. PMID: 15804048 Review.
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: kremer b. Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700. Ann Neurol. 2012. PMID: 23280838
Cognitive impairment in SCA-19.
Schelhaas HJ, van de Warrenburg BP, Hageman G, Ippel EE, van Hout M, Kremer B. Schelhaas HJ, et al. Among authors: kremer b. Acta Neurol Belg. 2003 Dec;103(4):199-205. Acta Neurol Belg. 2003. PMID: 15008504
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: kremer b. 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.
Peripheral nerve involvement in spinocerebellar ataxias.
van de Warrenburg BP, Notermans NC, Schelhaas HJ, van Alfen N, Sinke RJ, Knoers NV, Zwarts MJ, Kremer BP. van de Warrenburg BP, et al. Arch Neurol. 2004 Feb;61(2):257-61. doi: 10.1001/archneur.61.2.257. Arch Neurol. 2004. PMID: 14967775 Clinical Trial.
Trunk sway in patients with spinocerebellar ataxia.
Van de Warrenburg BP, Bakker M, Kremer BP, Bloem BR, Allum JH. Van de Warrenburg BP, et al. Mov Disord. 2005 Aug;20(8):1006-13. doi: 10.1002/mds.20486. Mov Disord. 2005. PMID: 15838852
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS. Duarri A, et al. PLoS One. 2015 Mar 10;10(3):e0116599. doi: 10.1371/journal.pone.0116599. eCollection 2015. PLoS One. 2015. PMID: 25756792 Free PMC article.
587 results