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Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
Verbeek DS, Warrenburg BP, Hennekam FA, Dooijes D, Ippel PF, Verschuuren-Bemelmans CC, Kremer HP, Sinke RJ. Verbeek DS, et al. Hum Genet. 2005 Jun;117(1):88-91. doi: 10.1007/s00439-005-1278-z. Epub 2005 Apr 20. Hum Genet. 2005. PMID: 15841389
Neurophysiological evaluation in children with Friedreich's ataxia.
Sival DA, du Marchie Sarvaas GJ, Brouwer OF, Uges DR, Verschuuren-Bemelmans CC, Maurits NM, Brunt ER, van der Hoeven JH. Sival DA, et al. Early Hum Dev. 2009 Oct;85(10):647-51. doi: 10.1016/j.earlhumdev.2009.09.002. Epub 2009 Sep 22. Early Hum Dev. 2009. PMID: 19775837
In children with Friedreich ataxia, muscle and ataxia parameters are associated.
Sival DA, Pouwels ME, Van Brederode A, Maurits NM, Verschuuren-Bemelmans CC, Brunt ER, Du Marchie Sarvaas GJ, Verbeek RJ, Brouwer OF, Van Der Hoeven JH. Sival DA, et al. Dev Med Child Neurol. 2011 Jun;53(6):529-34. doi: 10.1111/j.1469-8749.2011.03931.x. Dev Med Child Neurol. 2011. PMID: 21574990 Free article.
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. Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700. Ann Neurol. 2012. PMID: 23280838
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
de Bot ST, Burggraaff RC, Herkert JC, Schelhaas HJ, Post B, Diekstra A, van Vliet RO, van der Knaap MS, Kamsteeg EJ, Scheffer H, van de Warrenburg BP, Verschuuren-Bemelmans CC, Kremer HP. de Bot ST, et al. Eur J Hum Genet. 2013 Nov;21(11):1312-5. doi: 10.1038/ejhg.2013.27. Epub 2013 Feb 27. Eur J Hum Genet. 2013. PMID: 23443022 Free PMC article.
47 results