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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Tuschl K, et al. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Müller F, Maher ER, Barr FA, Aligianis IA. Bem D, et al. Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. Am J Hum Genet. 2011. PMID: 21473985 Free PMC article.
Single-cell guided prenatal derivation of primary fetal epithelial organoids from human amniotic and tracheal fluids.
Gerli MFM, Calà G, Beesley MA, Sina B, Tullie L, Sun KY, Panariello F, Michielin F, Davidson JR, Russo FM, Jones BC, Lee DDH, Savvidis S, Xenakis T, Simcock IC, Straatman-Iwanowska AA, Hirst RA, David AL, O'Callaghan C, Olivo A, Eaton S, Loukogeorgakis SP, Cacchiarelli D, Deprest J, Li VSW, Giobbe GG, De Coppi P. Gerli MFM, et al. Among authors: straatman iwanowska aa. Nat Med. 2024 Mar;30(3):875-887. doi: 10.1038/s41591-024-02807-z. Epub 2024 Mar 4. Nat Med. 2024. PMID: 38438734 Free PMC article.
BRAFV600E-mutated serrated colorectal neoplasia drives transcriptional activation of cholesterol metabolism.
Rzasa P, Whelan S, Farahmand P, Cai H, Guterman I, Palacios-Gallego R, Undru SS, Sandford L, Green C, Andreadi C, Mintseva M, Parrott E, Jin H, Hey F, Giblett S, Sylvius NB, Allcock NS, Straatman-Iwanowska A, Feuda R, Tufarelli C, Brown K, Pritchard C, Rufini A. Rzasa P, et al. Among authors: straatman iwanowska a. Commun Biol. 2023 Sep 21;6(1):962. doi: 10.1038/s42003-023-05331-x. Commun Biol. 2023. PMID: 37735514 Free PMC article.
Bypassing mitochondrial defects rescues Huntington's phenotypes in Drosophila.
Campesan S, Del Popolo I, Marcou K, Straatman-Iwanowska A, Repici M, Boytcheva KV, Cotton VE, Allcock N, Rosato E, Kyriacou CP, Giorgini F. Campesan S, et al. Among authors: straatman iwanowska a. Neurobiol Dis. 2023 Sep;185:106236. doi: 10.1016/j.nbd.2023.106236. Epub 2023 Jul 24. Neurobiol Dis. 2023. PMID: 37495179 Free article.
A novel role for kynurenine 3-monooxygenase in mitochondrial dynamics.
Maddison DC, Alfonso-Núñez M, Swaih AM, Breda C, Campesan S, Allcock N, Straatman-Iwanowska A, Kyriacou CP, Giorgini F. Maddison DC, et al. Among authors: straatman iwanowska a. PLoS Genet. 2020 Nov 10;16(11):e1009129. doi: 10.1371/journal.pgen.1009129. eCollection 2020 Nov. PLoS Genet. 2020. PMID: 33170836 Free PMC article.
23 results