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Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Seong E, et al. Among authors: burmeister m. Ann Neurol. 2018 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30. Ann Neurol. 2018. PMID: 29604224 Free PMC article.
Mouse models for psychiatric disorders.
Seong E, Seasholtz AF, Burmeister M. Seong E, et al. Among authors: burmeister m. Trends Genet. 2002 Dec;18(12):643-50. doi: 10.1016/s0168-9525(02)02807-x. Trends Genet. 2002. PMID: 12446150 Review.
To knockout in 129 or in C57BL/6: that is the question.
Seong E, Saunders TL, Stewart CL, Burmeister M. Seong E, et al. Among authors: burmeister m. Trends Genet. 2004 Feb;20(2):59-62. doi: 10.1016/j.tig.2003.12.006. Trends Genet. 2004. PMID: 14746984 Review.
Mutations in KCND3 cause spinocerebellar ataxia type 22.
Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stevanin G, Soong BW. Lee YC, et al. Among authors: burmeister m. Ann Neurol. 2012 Dec;72(6):859-69. doi: 10.1002/ana.23701. Ann Neurol. 2012. PMID: 23280837 Free PMC article.
303 results