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Page 1
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.
Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T. Altmann J, et al. Among authors: buchner b. J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19. J Neurol. 2016. PMID: 26995359
Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia.
Boesch S, Nachbauer W, Mariotti C, Sacca F, Filla A, Klockgether T, Klopstock T, Schöls L, Jacobi H, Büchner B, vom Hagen JM, Nanetti L, Manicom K. Boesch S, et al. Among authors: buchner b. Mov Disord. 2014 Jun;29(7):935-9. doi: 10.1002/mds.25836. Epub 2014 Feb 11. Mov Disord. 2014. PMID: 24515352 Clinical Trial.
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T. Haack TB, et al. Among authors: buchner b. Ann Clin Transl Neurol. 2015 May;2(5):492-509. doi: 10.1002/acn3.189. Epub 2015 Mar 13. Ann Clin Transl Neurol. 2015. PMID: 26000322 Free PMC article.
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmieć T, Büchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Küpper C, Neuhofer C, Kálmán B, Dušek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick SJ, Spino M, Blamire AM, Hogarth P, Vichinsky E. Klopstock T, et al. Among authors: buchner b. Lancet Neurol. 2019 Jul;18(7):631-642. doi: 10.1016/S1474-4422(19)30142-5. Lancet Neurol. 2019. PMID: 31202468 Clinical Trial.
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.
Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group. Stendel C, et al. Among authors: buchner b. Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042921 Free PMC article.
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
Werning M, Müllner EW, Mlynek G, Dobretzberger V, Djinovic-Carugo K, Baron DM, Prokisch H, Büchner B, Klopstock T, Salzer U. Werning M, et al. Among authors: buchner b. Ann Clin Transl Neurol. 2020 Aug;7(8):1340-1351. doi: 10.1002/acn3.51127. Epub 2020 Jul 23. Ann Clin Transl Neurol. 2020. PMID: 32705819 Free PMC article.
A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany.
Peseschkian T, Cordts I, Günther R, Stolte B, Zeller D, Schröter C, Weyen U, Regensburger M, Wolf J, Schneider I, Hermann A, Metelmann M, Kohl Z, Linker RA, Koch JC, Büchner B, Weiland U, Schönfelder E, Heinrich F, Osmanovic A, Klopstock T, Dorst J, Ludolph AC, Boentert M, Hagenacker T, Deschauer M, Lingor P, Petri S, Schreiber-Katz O. Peseschkian T, et al. Among authors: buchner b. Brain Sci. 2021 Mar 14;11(3):372. doi: 10.3390/brainsci11030372. Brain Sci. 2021. PMID: 33799476 Free PMC article.
360 results