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Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A. Rakovic A, et al. Among authors: nurnberg p. Mov Disord. 2009 Feb 15;24(3):429-33. doi: 10.1002/mds.22399. Mov Disord. 2009. PMID: 19097176 Free article.
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. Chung BD, et al. Among authors: nurnberg p, nurnberg g. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. Hum Mutat. 2009. PMID: 19177549
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L. Borck G, et al. Among authors: nurnberg p, nurnberg g. Mol Cell. 2012 Nov 30;48(4):641-6. doi: 10.1016/j.molcel.2012.09.005. Epub 2012 Oct 11. Mol Cell. 2012. PMID: 23063529 Free PMC article.
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C. von Ameln S, et al. Among authors: nurnberg p, nurnberg g. Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18. Am J Hum Genet. 2012. PMID: 23084290 Free PMC article.
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G, Klein C, Naz S, Lohmann K. Arif B, et al. Among authors: nurnberg p, nurnberg g. JAMA Neurol. 2013 Jun;70(6):783-7. doi: 10.1001/jamaneurol.2013.1174. JAMA Neurol. 2013. PMID: 23700088
696 results