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Page 1
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: wortmann sb. Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042921 Free PMC article.
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB, Gorza M, Danhauser K, Mayr JA, Haberberger B, Wieland T, Kremer L, Strecker V, Graf E, Memari Y, Ahting U, Kopajtich R, Wortmann SB, Rodenburg RJ, Kotzaeridou U, Hoffmann GF, Sperl W, Wittig I, Wilichowski E, Schottmann G, Schuelke M, Plecko B, Stephani U, Strom TM, Meitinger T, Prokisch H, Freisinger P. Haack TB, et al. Among authors: wortmann sb. Mol Genet Metab. 2014 Mar;111(3):342-352. doi: 10.1016/j.ymgme.2013.12.010. Epub 2013 Dec 25. Mol Genet Metab. 2014. PMID: 24461907
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. Wortmann SB, et al. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Am J Hum Genet. 2015. PMID: 25597510 Free PMC article.
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R. Huemer M, et al. Among authors: wortmann sb. J Inherit Metab Dis. 2015 Sep;38(5):905-14. doi: 10.1007/s10545-015-9836-6. Epub 2015 Apr 14. J Inherit Metab Dis. 2015. PMID: 25868664 Free PMC article.
Treatable mitochondrial diseases: cofactor metabolism and beyond.
Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H. Distelmaier F, et al. Among authors: wortmann sb. Brain. 2017 Feb;140(2):e11. doi: 10.1093/brain/aww303. Epub 2016 Dec 19. Brain. 2017. PMID: 27993888 No abstract available.
CAD mutations and uridine-responsive epileptic encephalopathy.
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. Koch J, et al. Among authors: wortmann sb. Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21. Brain. 2017. PMID: 28007989
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Feichtinger RG, Brunner-Krainz M, Alhaddad B, Wortmann SB, Kovacs-Nagy R, Stojakovic T, Erwa W, Resch B, Windischhofer W, Verheyen S, Uhrig S, Windpassinger C, Locker F, Makowski C, Strom TM, Meitinger T, Prokisch H, Sperl W, Haack TB, Mayr JA. Feichtinger RG, et al. Among authors: wortmann sb. Oxid Med Cell Longev. 2017;2017:7202589. doi: 10.1155/2017/7202589. Epub 2017 Jul 19. Oxid Med Cell Longev. 2017. PMID: 28804536 Free PMC article.
190 results