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Recent advances in hereditary spinocerebellar ataxias.
van de Warrenburg BP, Sinke RJ, Kremer B. van de Warrenburg BP, et al. Among authors: sinke rj. 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.
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia.
Schelhaas HJ, Ippel PF, Hageman G, Sinke RJ, van der Laan EN, Beemer FA. Schelhaas HJ, et al. Among authors: sinke rj. J Neurol. 2001 Feb;248(2):113-20. doi: 10.1007/s004150170245. J Neurol. 2001. PMID: 11284128
Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype.
van Alfen N, Sinke RJ, Zwarts MJ, Gabreƫls-Festen A, Praamstra P, Kremer BP, Horstink MW. van Alfen N, et al. Among authors: sinke rj. Ann Neurol. 2001 Jun;49(6):805-7. doi: 10.1002/ana.1089. Ann Neurol. 2001. PMID: 11409435
Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype.
van de Warrenburg BP, Frenken CW, Ausems MG, Kleefstra T, Sinke RJ, Knoers NV, Kremer HP. van de Warrenburg BP, et al. Among authors: sinke rj. J Neurol. 2001 Oct;248(10):911-4. doi: 10.1007/s004150170082. J Neurol. 2001. PMID: 11697534 No abstract available.
Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families.
Sinke RJ, Ippel EF, Diepstraten CM, Beemer FA, Wokke JH, van Hilten BJ, Knoers NV, van Amstel HK, Kremer HP. Sinke RJ, et al. Arch Neurol. 2001 Nov;58(11):1839-44. doi: 10.1001/archneur.58.11.1839. Arch Neurol. 2001. PMID: 11708993
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.
van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, Maat-Kievit JA, Dooijes D, Notermans NC, Lindhout D, Knoers NV, Kremer HP. van de Warrenburg BP, et al. Among authors: sinke rj. Neurology. 2002 Mar 12;58(5):702-8. doi: 10.1212/wnl.58.5.702. Neurology. 2002. PMID: 11889231
Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
Verbeek DS, Schelhaas JH, Ippel EF, Beemer FA, Pearson PL, Sinke RJ. Verbeek DS, et al. Among authors: sinke rj. Hum Genet. 2002 Oct;111(4-5):388-93. doi: 10.1007/s00439-002-0782-7. Epub 2002 Aug 30. Hum Genet. 2002. PMID: 12384780
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.
van de Warrenburg BP, Verbeek DS, Piersma SJ, Hennekam FA, Pearson PL, Knoers NV, Kremer HP, Sinke RJ. van de Warrenburg BP, et al. Among authors: sinke rj. Neurology. 2003 Dec 23;61(12):1760-5. doi: 10.1212/01.wnl.0000098883.79421.73. Neurology. 2003. PMID: 14694043
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. Among authors: sinke rj. Arch Neurol. 2004 Feb;61(2):257-61. doi: 10.1001/archneur.61.2.257. Arch Neurol. 2004. PMID: 14967775 Clinical Trial.
Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.
Verbeek DS, Piersma SJ, Hennekam EF, Ippel EF, Pearson PL, Sinke RJ. Verbeek DS, et al. Among authors: sinke rj. Eur J Hum Genet. 2004 Jun;12(6):441-6. doi: 10.1038/sj.ejhg.5201167. Eur J Hum Genet. 2004. PMID: 15026782
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