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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: 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.
Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype.
van Alfen N, Sinke RJ, Zwarts MJ, Gabreëls-Festen A, Praamstra P, Kremer BP, Horstink MW. van Alfen N, et al. Among authors: kremer bp. Ann Neurol. 2001 Jun;49(6):805-7. doi: 10.1002/ana.1089. Ann Neurol. 2001. PMID: 11409435
Autosomal recessive cerebellar ataxias: the current state of affairs.
Vermeer S, van de Warrenburg BP, Willemsen MA, Cluitmans M, Scheffer H, Kremer BP, Knoers NV. Vermeer S, et al. Among authors: kremer bp. J Med Genet. 2011 Oct;48(10):651-9. doi: 10.1136/jmedgenet-2011-100210. Epub 2011 Aug 19. J Med Genet. 2011. PMID: 21856962 Review.
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B. Vermeer S, et al. Among authors: kremer b. Neurogenetics. 2008 Jul;9(3):207-14. doi: 10.1007/s10048-008-0131-7. Epub 2008 May 9. Neurogenetics. 2008. PMID: 18465152 Free PMC article.
Neurophysiologic studies in early-onset cerebellar ataxia.
Schelhaas HJ, van de Warrenburg BP, Bos MM, Houtman CJ, Scheffer H, Gabreëls-Festen A, Kremer B, Zwarts MJ. Schelhaas HJ, et al. Among authors: kremer b. J Clin Neurophysiol. 2006 Aug;23(4):381-7. doi: 10.1097/01.wnp.0000216262.54227.7a. J Clin Neurophysiol. 2006. PMID: 16885713 Clinical Trial.
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Vermeer S, et al. Among authors: kremer b. Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092923 Free PMC article.
Self-rated health status in spinocerebellar ataxia--results from a European multicenter study.
Schmitz-Hübsch T, Coudert M, Giunti P, Globas C, Baliko L, Fancellu R, Mariotti C, Filla A, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Ratzka S, Kremer B, Schulz JB, Klopstock T, Melegh B, du Montcel ST, Klockgether T. Schmitz-Hübsch T, et al. Among authors: kremer b. Mov Disord. 2010 Apr 15;25(5):587-95. doi: 10.1002/mds.22740. Mov Disord. 2010. PMID: 20175183
Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients.
Schmitz-Hübsch T, Tezenas du Montcel S, Baliko L, Boesch S, Bonato S, Fancellu R, Giunti P, Globas C, Kang JS, Kremer B, Mariotti C, Melegh B, Rakowicz M, Rola R, Romano S, Schöls L, Szymanski S, van de Warrenburg BP, Zdzienicka E, Dürr A, Klockgether T. Schmitz-Hübsch T, et al. Among authors: kremer b. Mov Disord. 2006 May;21(5):699-704. doi: 10.1002/mds.20781. Mov Disord. 2006. PMID: 16450347
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
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
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