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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. JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184. JAMA. 2014. PMID: 25058219 Free PMC article.
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.
Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmüller H, Chinnery PF, Klopstock T, Horvath R. Walter MC, et al. J Neurol. 2010 Sep;257(9):1517-23. doi: 10.1007/s00415-010-5565-9. Epub 2010 Apr 20. J Neurol. 2010. PMID: 20405137
Clinical and neuropathological findings in patients with TACO1 mutations.
Seeger J, Schrank B, Pyle A, Stucka R, Lörcher U, Müller-Ziermann S, Abicht A, Czermin B, Holinski-Feder E, Lochmüller H, Horvath R. Seeger J, et al. Neuromuscul Disord. 2010 Nov;20(11):720-4. doi: 10.1016/j.nmd.2010.06.017. Epub 2010 Aug 19. Neuromuscul Disord. 2010. PMID: 20727754
Respiratory chain deficiency in nonmitochondrial disease.
Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R. Pyle A, et al. Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066545 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. 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.
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. Reilich P, et al. J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5. J Neurol. 2011. PMID: 21544567
223 results