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Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ. Sun Y, et al. Among authors: breedveld gj. Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11. Hum Mutat. 2013. PMID: 23418007
Genetic study on Tourette syndrome in The Netherlands.
Heutink P, van de Wetering BJ, Breedveld GJ, Oostra BA. Heutink P, et al. Among authors: breedveld gj. Adv Neurol. 1992;58:167-72. Adv Neurol. 1992. PMID: 1414621 Review. No abstract available.
Dinucleotide repeat polymorphism at D11S994 locus.
Bontekoe CJ, de Graaff E, Breedveld GJ, Oostra BA, Heutink P. Bontekoe CJ, et al. Among authors: breedveld gj. Hum Mol Genet. 1993 Oct;2(10):1747. doi: 10.1093/hmg/2.10.1747. Hum Mol Genet. 1993. PMID: 8268942 No abstract available.
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.
van Duijn CM, Dekker MC, Bonifati V, Galjaard RJ, Houwing-Duistermaat JJ, Snijders PJ, Testers L, Breedveld GJ, Horstink M, Sandkuijl LA, van Swieten JC, Oostra BA, Heutink P. van Duijn CM, et al. Among authors: breedveld gj. Am J Hum Genet. 2001 Sep;69(3):629-34. doi: 10.1086/322996. Epub 2001 Jul 2. Am J Hum Genet. 2001. PMID: 11462174 Free PMC article.
107 results