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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
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Wortmann SB, Timal S, Venselaar H, Wintjes LT, Kopajtich R, Feichtinger RG, Onnekink C, Mühlmeister M, Brandt U, Smeitink JA, Veltman JA, Sperl W, Lefeber D, Pruijn G, Stojanovic V, Freisinger P, V Spronsen F, Derks TG, Veenstra-Knol HE, Mayr JA, Rötig A, Tarnopolsky M, Prokisch H, Rodenburg RJ. Wortmann SB, et al. Hum Mutat. 2017 Dec;38(12):1786-1795. doi: 10.1002/humu.23340. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28905505
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA. Piekutowska-Abramczuk D, et al. Among authors: wortmann sb. Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429571 Free PMC article.
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.
Kovacs-Nagy R, Morin G, Nouri MA, Brandau O, Saadi NW, Nouri MA, van den Broek F, Prokisch H, Mayr JA, Wortmann SB. Kovacs-Nagy R, et al. Among authors: wortmann sb. Neuropediatrics. 2018 Dec;49(6):373-378. doi: 10.1055/s-0038-1667345. Epub 2018 Aug 16. Neuropediatrics. 2018. PMID: 30114719
188 results