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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
1997 1
1998 1
1999 1
2001 2
2004 2
2005 2
2006 4
2007 4
2008 9
2009 12
2010 8
2011 8
2012 13
2013 18
2014 15
2015 16
2016 17
2017 22
2018 16
2019 11
2020 16
2021 10
2022 18
2023 17
2024 11
2025 13

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239 results

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Page 1
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.
van Karnebeek CDM, Gailus-Durner V, Engelke UF, Seisenberger C, Marschall S, Dragano NRV, da Silva-Buttkus P, Leuchtenberger S, Fuchs H, Hrabě de Angelis M, Wevers RA, Coughlin CR, Lefeber DJ. van Karnebeek CDM, et al. Among authors: gailus durner v. Brain Commun. 2025 Oct 14;7(6):fcaf397. doi: 10.1093/braincomms/fcaf397. eCollection 2025. Brain Commun. 2025. PMID: 41221123 Free PMC article.
Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia.
Bhattacharya D, da Silva-Buttkus P, Nalbach K, Cheng L, Garrett L, Irmler M, Kislinger G, Werner G, Rodde R, Lengger C, Beckers J, Zimprich A, Hölter SM, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Wefers B, Wurst W, Brill MS, Schifferer M, Lichtenthaler SF, Behrends C. Bhattacharya D, et al. Among authors: gailus durner v. Cell Death Dis. 2025 Oct 31;16(1):775. doi: 10.1038/s41419-025-08168-w. Cell Death Dis. 2025. PMID: 41173829 Free PMC article.
Abcb5-deficient mice show a subtle, pleiotropic phenotype indicating a role for this transporter in intermediary metabolism.
Gillet JP, Gerard L, Vieira W, Fourrez M, Gaudray F, Rathkolb B, Rozman J, Klein-Rodewald T, Becker L, Aguilar-Pimentel A, Horsch M, Spielmann N, Prehn C, Bihin B, Beckers J, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Southon E, Tessarollo L, Xia D, Gottesman MM. Gillet JP, et al. Among authors: gailus durner v. iScience. 2025 Sep 20;28(10):113617. doi: 10.1016/j.isci.2025.113617. eCollection 2025 Oct 17. iScience. 2025. PMID: 41142997 Free PMC article.
Loss of histone macroH2A1.1 causes kidney abnormalities secondary to a change in nutrient metabolization.
Winkler R, Comas-Armangué G, Corujo D, Sanz-Moreno A, Calzada-Wack J, Bhattacharya SA, Rathkolb B, Dragano NRV, Qiao CX, Chiodi V, Filipescu D, Park DH, Domenici MR, Kirigin Callaú V, Gerlini R, Rozman J, Klein-Rodewald T, Aguilar-Pimentel A, Becker L, Seisenberger C, Marschall S, Fuchs H, Gailus-Durner V, Bernstein E, Vinciguerra M, Oberdoerffer P, Hrabě de Angelis M, Teperino R, Buschbeck M. Winkler R, et al. Among authors: gailus durner v. Sci Adv. 2025 Oct 24;11(43):eadz1242. doi: 10.1126/sciadv.adz1242. Epub 2025 Oct 24. Sci Adv. 2025. PMID: 41134882 Free PMC article.
NRAC controls CD36-mediated fatty acid uptake in adipocytes and lipid clearance in vivo.
Singh I, Onogi Y, Menezes F, Khasanova D, Kang L, Wang C, Ruiz-Trave J, Sharma S, Khalil A, Reichenbach VK, Shi Y, Flatley A, Yan X, Israel A, Dragano NRV, Aguilar-Pimentel JA, Hoffmann A, Ghosh A, Noé F, Wolfrum C, Cucuruz S, König AC, Burtscher I, Hauck SM, Lickert H, Hofmann SM, Feederle R, Schriever SC, Hernandez-Bautista R, Sancar G, Cebrian-Serrano A, Tetko I, Fuchs H, Gailus-Durner V, Blüher M, Hrabě de Angelis M, Ussar S. Singh I, et al. Among authors: gailus durner v. EMBO J. 2025 Sep;44(18):5037-5065. doi: 10.1038/s44318-025-00520-2. Epub 2025 Aug 1. EMBO J. 2025. PMID: 40750702 Free PMC article.
Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice.
Segur-Bailach E, Mateu-Bosch A, Bofill-De Ros X, Parés M, da Silva Buttkus P, Rathkolb B, Gailus-Durner V, Hrabě de Angelis M, Moeini P, Gonzalez-Aseguinolaza G, Tort F, Ribes A, van Karnebeek CDM, García-Villoria J, Fillat C. Segur-Bailach E, et al. Among authors: gailus durner v. Mol Ther. 2025 Oct 1;33(10):4820-4833. doi: 10.1016/j.ymthe.2025.07.022. Epub 2025 Jul 17. Mol Ther. 2025. PMID: 40682274 Free article.
Ocular Phenotyping of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes.
Hang A, Shao A, Shea M, Roux MJ, Imai-Leonard DM, Adams DJ, Amano T, Amarie OV, Berberovic Z, Bour R, Bower L, Leonard BC, Brown SD, Cho SY, Clementson-Mobbs S, D'Souza AJ, Dickinson M, Eskandarian M, Flenniken AM, Fuchs H, Gailus-Durner V, Heaney J, Hérault Y, Hrabe de Angelis M, Hsu CW, Jin S, Joynson R, Kang YK, Kim H, Masuya H, Nam KH, Noh H, Nutter LMJ, Palkova M, Prochazka J, Raishbrook MJ, Riet F, Salazar J, Seavitt JR, Sedlacek R, Selloum M, Seo KY, Seong JK, Shin HS, Shiroishi T, Sorg T, Stewart M, Tamura M, Tolentino H, Udensi U, Wells S, Wurst W, Yoshiki A, Meziane H, Yiu G, Sieving PA, Lanoue L, Lloyd KCK, McKerlie C, Moshiri A; International Mouse Phenotyping Consortium (IMPC). Hang A, et al. Among authors: gailus durner v. Invest Ophthalmol Vis Sci. 2025 Jun 2;66(6):64. doi: 10.1167/iovs.66.6.64. Invest Ophthalmol Vis Sci. 2025. PMID: 40548636 Free PMC article.
Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion Spectroscopy.
Schuurman JL, van Tetering L, Houthuijs KJ, Kooijman P, Gailus-Durner V, Leuchtenberger S, Fuchs H, Hrabe de Angelis M, Engelke UFH, Lefeber DJ, van Karnebeek CDM, Wevers RA, Grgic A, Balluf B, Vandenbosch M, Vreeken R, Heeren RMA, Berden G, Oomens J, Martens J. Schuurman JL, et al. Among authors: gailus durner v. Anal Chem. 2025 Jul 1;97(25):13160-13167. doi: 10.1021/acs.analchem.5c00948. Epub 2025 Jun 16. Anal Chem. 2025. PMID: 40521743 Free PMC article.
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome.
Luo S, Gailus-Durner V, McGivern B, Li Q, Kottmeier J, Ho ML, Mor-Shaked H, Elpeleg O, Aref-Eshghi E, Brodeur AC, Schmitz-Abe K, Genetti CA, Picker J, Shi J, Bux RI, Ben-Omran T, Fuchs H, Harel T, de Angelis MH; German Mouse Clinic Consortium; Agrawal PB. Luo S, et al. Among authors: gailus durner v. Eur J Hum Genet. 2025 May 15. doi: 10.1038/s41431-025-01863-4. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40374945
Systematic Ocular Phenotyping of Knockout Mouse Lines Identifies Genes Associated With Age-Related Corneal Dystrophies.
Briere A, Vo P, Yang B, Adams D, Amano T, Amarie O, Berberovic Z, Bower L, Brown SDM, Burrill S, Cho SY, Clementson-Mobbs S, D'souza A, Eskandarian M, Flenniken AM, Fuchs H, Gailus-Durner V, Hérault Y, Hrabe de Angelis M, Jin S, Joynson R, Kang YK, Kim H, Masuya H, Meziane H, Nam KH, Noh H, Nutter LMJ, Palkova M, Prochazka J, Raishbrook MJ, Riet F, Salazar J, Sedlacek R, Selloum M, Seo KY, Seong JK, Shin HS, Shiroishi T, Stewart M, Svenson K, Tamura M, Tolentino H, Wells S, Wurst W, Yoshiki A, Lanoue L, Lloyd KCK, Leonard BC, Roux MJ, McKerlie C, Moshiri A; International Mouse Phenotyping Consortium. Briere A, et al. Among authors: gailus durner v. Invest Ophthalmol Vis Sci. 2025 May 1;66(5):7. doi: 10.1167/iovs.66.5.7. Invest Ophthalmol Vis Sci. 2025. PMID: 40323269 Free PMC article.
239 results