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The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.
Bross P, Naundrup S, Hansen J, Nielsen MN, Christensen JH, Kruhøffer M, Palmfeldt J, Corydon TJ, Gregersen N, Ang D, Georgopoulos C, Nielsen KL. Bross P, et al. Among authors: nielsen mn, nielsen kl. J Biol Chem. 2008 Jun 6;283(23):15694-700. doi: 10.1074/jbc.M800548200. Epub 2008 Apr 8. J Biol Chem. 2008. PMID: 18400758 Free PMC article.
Association between genes on chromosome 19p13.2 and panic disorder.
Gregersen NO, Buttenschøn HN, Hedemand A, Nielsen MN, Dahl HA, Kristensen AS, Johansen O, Woldbye DP, Erhardt A, Kruse TA, Wang AG, Børglum AD, Mors O. Gregersen NO, et al. Psychiatr Genet. 2016 Dec;26(6):287-292. doi: 10.1097/YPG.0000000000000147. Psychiatr Genet. 2016. PMID: 27610895
Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.
Bross P, Frederiksen JB, Bie AS, Hansen J, Palmfeldt J, Nielsen MN, Duno M, Lund AM, Christensen E. Bross P, et al. Among authors: nielsen mn. J Inherit Metab Dis. 2012 Sep;35(5):787-96. doi: 10.1007/s10545-011-9437-y. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231382
4,670 results