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TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M. Powell CA, et al. Among authors: meitinger t. Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16. Am J Hum Genet. 2015. PMID: 26189817 Free PMC article.
Integrative analysis of the mitochondrial proteome in yeast.
Prokisch H, Scharfe C, Camp DG 2nd, Xiao W, David L, Andreoli C, Monroe ME, Moore RJ, Gritsenko MA, Kozany C, Hixson KK, Mottaz HM, Zischka H, Ueffing M, Herman ZS, Davis RW, Meitinger T, Oefner PJ, Smith RD, Steinmetz LM. Prokisch H, et al. Among authors: meitinger t. PLoS Biol. 2004 Jun;2(6):e160. doi: 10.1371/journal.pbio.0020160. Epub 2004 Jun 15. PLoS Biol. 2004. PMID: 15208715 Free PMC article.
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T. Zimprich A, et al. Among authors: meitinger t. Neuron. 2004 Nov 18;44(4):601-7. doi: 10.1016/j.neuron.2004.11.005. Neuron. 2004. PMID: 15541309 Free article.
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. den Hollander AI, et al. Among authors: meitinger t. Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 Jul 11. Am J Hum Genet. 2006. PMID: 16909394 Free PMC article.
713 results