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The long non-coding RNA HOTAIRM1 promotes tumor aggressiveness and radiotherapy resistance in glioblastoma.
Ahmadov U, Picard D, Bartl J, Silginer M, Trajkovic-Arsic M, Qin N, Blümel L, Wolter M, Lim JKM, Pauck D, Winkelkotte AM, Melcher M, Langini M, Marquardt V, Sander F, Stefanski A, Steltgens S, Hassiepen C, Kaufhold A, Meyer FD, Seibt A, Kleinesudeik L, Hain A, Münk C, Knobbe-Thomsen CB, Schramm A, Fischer U, Leprivier G, Stühler K, Fulda S, Siveke JT, Distelmaier F, Borkhardt A, Weller M, Roth P, Reifenberger G, Remke M. Ahmadov U, et al. Among authors: distelmaier f. Cell Death Dis. 2021 Sep 28;12(10):885. doi: 10.1038/s41419-021-04146-0. Cell Death Dis. 2021. PMID: 34584066 Free PMC article.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A, Kini U. Loong L, et al. Among authors: distelmaier f. Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022.09.007. Epub 2022 Nov 2. Genet Med. 2023. PMID: 36322149 Free article.
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
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
Herebian D, Alhaddad B, Seibt A, Schwarzmayr T, Danhauser K, Klee D, Harmsen S, Meitinger T, Strom TM, Schulz A, Mayatepek E, Haack TB, Distelmaier F. Herebian D, et al. Among authors: distelmaier f. Eur J Hum Genet. 2017 Sep;25(9):1092-1095. doi: 10.1038/ejhg.2017.96. Epub 2017 Jun 14. Eur J Hum Genet. 2017. PMID: 28612835 Free PMC article.
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.
Melcher M, Danhauser K, Seibt A, Degistirici Ö, Baertling F, Kondadi AK, Reichert AS, Koopman WJH, Willems PHGM, Rodenburg RJ, Mayatepek E, Meisel R, Distelmaier F. Melcher M, et al. Among authors: distelmaier f. Stem Cell Res Ther. 2017 Jun 24;8(1):150. doi: 10.1186/s13287-017-0601-7. Stem Cell Res Ther. 2017. PMID: 28646906 Free PMC article.
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.
137 results