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Page 1
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Timal S, et al. Among authors: eidhof i. Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22492991
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Traschütz A, Schöls L, Coarelli G, Durr A, Anheim M, Tranchant C, van de Warrenburg B, Guissart C, Koenig M, Howell J, Moraes CT, Schenck A, Stevanin G, Züchner S, Synofzik M; PREPARE network. Rebelo AP, et al. Among authors: eidhof i. Brain. 2021 Jun 22;144(5):1467-1481. doi: 10.1093/brain/awab071. Brain. 2021. PMID: 33889951
SnapShot: Biology of Genetic Ataxias.
Eidhof I, van de Warrenburg BP, Schenck A. Eidhof I, et al. Cell. 2018 Oct 18;175(3):890-890.e1. doi: 10.1016/j.cell.2018.10.017. Cell. 2018. PMID: 30340048 Free article. Review.
Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila.
Castells-Nobau A, Eidhof I, Fenckova M, Brenman-Suttner DB, Scheffer-de Gooyert JM, Christine S, Schellevis RL, van der Laan K, Quentin C, van Ninhuijs L, Hofmann F, Ejsmont R, Fisher SE, Kramer JM, Sigrist SJ, Simon AF, Schenck A. Castells-Nobau A, et al. Among authors: eidhof i. PLoS One. 2019 Feb 12;14(2):e0211652. doi: 10.1371/journal.pone.0211652. eCollection 2019. PLoS One. 2019. PMID: 30753188 Free PMC article.
O-GlcNAcase contributes to cognitive function in Drosophila.
Muha V, Fenckova M, Ferenbach AT, Catinozzi M, Eidhof I, Storkebaum E, Schenck A, van Aalten DMF. Muha V, et al. Among authors: eidhof i. J Biol Chem. 2020 Jun 26;295(26):8636-8646. doi: 10.1074/jbc.RA119.010312. Epub 2020 Feb 24. J Biol Chem. 2020. PMID: 32094227 Free PMC article.
18 results