Eigene Publikationen

  1. Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T. Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA. Mitochondrion. 2016 Oct 6. pii: S1567-7249(16)30205-7. doi: 10.1016/j.mito.2016.10.002. [Epub ahead of print] PubMed PMID: 27721048.
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  2. Catarino CB, Klopstock T. Use of idebenone for treatment of Leber’s Hereditary Optic Neuropathy (LHON): Review of the evidence Journal of Inborn Errors of Metabolism and Screening. 2017, vol. 5. Epub September 18, 2017.
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  3. Yu-Wai-Man P, Hudson G, Klopstock T, Chinnery PF. Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion. Brain. 2016 Mar;139(Pt 3):e18. doi: 10.1093/brain/awv340. Epub 2015 Dec 10. PubMed PMID: 26657167.
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  4. Eckenweiler M, Catarino CB, Gallenmueller C, Klopstock T, Lagrèze WA, Korinthenberg R, Kirschner J. Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy. J Neurol. 2015 Dec;262(12):2776-9. doi: 10.1007/s00415-015-7955-5. Epub 2015 Nov 3. PubMed PMID: 26530508.
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  5. Dimitriadis K, Leonhardt M, Yu-Wai-Man P, Kirkman MA, Korsten A, De Coo IF,Chinnery PF, Klopstock T. Leber's hereditary optic neuropathy with late diseaseonset: clinical and molecular characteristics of 20 patients. Orphanet J Rare Dis. 2014 Oct 23;9:158. doi: 10.1186/s13023-014-0158-9. PubMed PMID: 25338955;PubMed Central PMCID: PMC4212093.
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  6. Gallenmüller C, Klopstock T. [Leber's hereditary optic neuropathy - phenotype, genetics, therapeutic options]. KlinMonblAugenheilkd. 2014 Mar;231(3):216-21.doi: 10.1055/s-0033-1360144. Epub 2014 Mar 21. Review.German. PubMed PMID: 24658858.
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  7. Rudolph G, Dimitriadis K, Büchner B, Heck S, Al-Tamami J, Seidensticker F,Rummey C, Leinonen M, Meier T, Klopstock T. Effects of Idebenon on color visionin patients with leber hereditary optic neuropathy. J Neuroophthalmol. 2013 Mar;33(1):30-6. doi: 10.1097/WNO.0b013e318272c643. PubMed PMID: 23263355; PubMedCentral PMCID: PMC3658961.
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  8. Klopstock T, Metz G, Yu-Wai-Man P, Büchner B, Gallenmüller C, Bailie M, Nwali N, Griffiths PG, von Livonius B, Reznicek L, Rouleau J, Coppard N, Meier T, Chinnery PF. Persistence of the treatment effect of Idebenon in Leber's hereditary optic neuropathy.Brain. 2013 Feb;136(Pt 2):e230. doi: 10.1093/brain/aws279. Epub 2013 Feb 6. PubMed PMID: 23388409; PubMed Central PMCID: PMC3572931.
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  9. Klopstock T, Yu-Wai-Man P, Dimitriadis K, Rouleau J, Heck S, Bailie M, Atawan A, Chattopadhyay S, Schubert M, Garip A, Kernt M, Petraki D, Rummey C, Leinonen M, Metz G, Griffiths PG, Meier T, Chinnery PF. A randomized placebo-controlled trial of Idebenon in Leber's hereditary optic neuropathy.Brain. 2011 Sep;134(Pt 9):2677-86. doi: 10.1093/brain/awr170. Epub 2011 Jul 25. PubMed PMID: 21788663; PubMed Central PMCID: PMC3170530.
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  10. Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF. Gene-environment interactions in Leber hereditary opticneuropathy. Brain. 2009 Sep;132(Pt 9):2317-26. doi: 10.1093/brain/awp158. Epub 2009 Jun 12. PubMed PMID: 19525327; PubMed Central PMCID: PMC2732267.
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  11. Kirkman MA, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Griffiths PG, Hudson G, Chinnery PF, Yu-Wai-Man P. Quality of life in patients with leber hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3112-5. doi: 10.1167/iovs.08-3166. Epub 2009 Feb 28. PubMed PMID:19255150.
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