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MATR3 haploinsufficiency and early-onset neurodegeneration.
Zech M, Seibt A, Zumbaum B, Klee D, Meitinger T, Winkelmann J, Mayatepek E, Wagner M, Distelmaier F. Zech M, et al. Among authors: distelmaier f. Brain. 2021 Oct 22;144(9):e72. doi: 10.1093/brain/awab240. Brain. 2021. PMID: 34173818 No abstract available.
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F. Holzerova E, et al. Among authors: distelmaier f. Brain. 2016 Feb;139(Pt 2):346-54. doi: 10.1093/brain/awv350. Epub 2015 Dec 1. Brain. 2016. PMID: 26626369
Neonatal encephalocardiomyopathy caused by mutations in VARS2.
Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F. Baertling F, et al. Among authors: distelmaier f. Metab Brain Dis. 2017 Feb;32(1):267-270. doi: 10.1007/s11011-016-9890-2. Epub 2016 Aug 8. Metab Brain Dis. 2017. PMID: 27502409
4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency.
Herebian D, Seibt A, Smits SHJ, Rodenburg RJ, Mayatepek E, Distelmaier F. Herebian D, et al. Among authors: distelmaier f. Ann Clin Transl Neurol. 2017 Oct 17;4(12):902-908. doi: 10.1002/acn3.486. eCollection 2017 Dec. Ann Clin Transl Neurol. 2017. PMID: 29296619 Free PMC article.
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. Esposito A, et al. Among authors: distelmaier f. Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326. Brain. 2019. PMID: 31688942
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB. Laugwitz L, et al. Among authors: distelmaier f. Brain. 2024 Feb 22:awae058. doi: 10.1093/brain/awae058. Online ahead of print. Brain. 2024. PMID: 38386308
137 results