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Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Bruhn H, Samuelsson K, Schober FA, Engvall M, Lesko N, Wibom R, Nennesmo I, Calvo-Garrido J, Press R, Stranneheim H, Freyer C, Wedell A, Wredenberg A. Bruhn H, et al. Among authors: wredenberg a. Neurol Genet. 2021 Mar 15;7(2):e566. doi: 10.1212/NXG.0000000000000566. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33732874 Free PMC article.
Increased mitochondrial mass in mitochondrial myopathy mice.
Wredenberg A, Wibom R, Wilhelmsson H, Graff C, Wiener HH, Burden SJ, Oldfors A, Westerblad H, Larsson NG. Wredenberg A, et al. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15066-71. doi: 10.1073/pnas.232591499. Epub 2002 Nov 4. Proc Natl Acad Sci U S A. 2002. PMID: 12417746 Free PMC article.
Premature ageing in mice expressing defective mitochondrial DNA polymerase.
Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlöf S, Oldfors A, Wibom R, Törnell J, Jacobs HT, Larsson NG. Trifunovic A, et al. Among authors: wredenberg a. Nature. 2004 May 27;429(6990):417-23. doi: 10.1038/nature02517. Nature. 2004. PMID: 15164064
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M. Acuna-Hidalgo R, et al. Among authors: wredenberg a. Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152457 Free PMC article.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
Stranneheim H, Engvall M, Naess K, Lesko N, Larsson P, Dahlberg M, Andeer R, Wredenberg A, Freyer C, Barbaro M, Bruhn H, Emahazion T, Magnusson M, Wibom R, Zetterström RH, Wirta V, von Döbeln U, Wedell A. Stranneheim H, et al. Among authors: wredenberg a. BMC Genomics. 2014 Dec 11;15(1):1090. doi: 10.1186/1471-2164-15-1090. BMC Genomics. 2014. PMID: 25495354 Free PMC article.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterström RH, von Döbeln U, Wredenberg A, Wedell A. Freyer C, et al. Among authors: wredenberg a. J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17. J Med Genet. 2015. PMID: 26084283 Free PMC article.
59 results