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Revisiting mitochondrial diagnostic criteria in the new era of genomics.
Witters P, Saada A, Honzik T, Tesarova M, Kleinle S, Horvath R, Goldstein A, Morava E. Witters P, et al. Among authors: kleinle s. Genet Med. 2018 Apr;20(4):444-451. doi: 10.1038/gim.2017.125. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261183 Free article.
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.
Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R. Bartsakoulia M, et al. Among authors: kleinle s. Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033. Hum Mol Genet. 2018. PMID: 29361167 Free PMC article.
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Taylor RW, et al. Among authors: kleinle s. JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184. JAMA. 2014. PMID: 25058219 Free PMC article.
Mitochondrial dysfunction in liver failure requiring transplantation.
Lane M, Boczonadi V, Bachtari S, Gomez-Duran A, Langer T, Griffiths A, Kleinle S, Dineiger C, Abicht A, Holinski-Feder E, Schara U, Gerner P, Horvath R. Lane M, et al. Among authors: kleinle s. J Inherit Metab Dis. 2016 May;39(3):427-436. doi: 10.1007/s10545-016-9927-z. Epub 2016 Apr 6. J Inherit Metab Dis. 2016. PMID: 27053192 Free PMC article.
Genetic heterogeneity of motor neuropathies.
Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R. Bansagi B, et al. Among authors: kleinle s. Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1. Neurology. 2017. PMID: 28251916 Free PMC article.
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
Braczynski AK, Vlaho S, Müller K, Wittig I, Blank AE, Tews DS, Drott U, Kleinle S, Abicht A, Horvath R, Plate KH, Stenzel W, Goebel HH, Schulze A, Harter PN, Kieslich M, Mittelbronn M. Braczynski AK, et al. Among authors: kleinle s. Biomed Res Int. 2015;2015:462592. doi: 10.1155/2015/462592. Epub 2015 Oct 13. Biomed Res Int. 2015. PMID: 26550569 Free PMC article.
35 results