Ilse Eidhof

Publikationer
Populärvetenskap och samverkan

Artiklar

Article: BRAIN. 2021;144(5):1467-1481
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
Article: SCIENCE ADVANCES. 2021;7(23):eabe2626
The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.
Coll-Tané M; Gong NN; Belfer SJ; van Renssen LV; Kurtz-Nelson EC; Szuperak M; Eidhof I; van Reijmersdal B; Terwindt I; Durkin J; Verheij MMM; Kim CN; Hudac CM; Nowakowski TJ; Bernier RA; Pillen S; Earl RK; Eichler EE; Kleefstra T; Kayser MS; Schenck A
Article: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 2021;9:710247
Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3
Jennings MJ; Hathazi D; Nguyen CDL; Munro B; Munchberg U; Ahrends R; Schenck A; Eidhof I; Freier E; Synofzik M; Horvath R; Roos A
Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2020;295(26):8636-8646
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
Article: JOURNAL OF MEDICAL GENETICS. 2019;56(5):283-292
Integrative network and brain expression analysis reveals mechanistic modules in ataxia
Eidhof I; van de Warrenburg BP; Schenck A
Article: PLOS ONE. 2019;14(2):e0211652
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
Article: BRAIN. 2018;141(9):2592-2604
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia
Eidhof I; Baets J; Kamsteeg E-J; Deconinck T; van Ninhuijs L; Martin J-J; Schuele R; Zuchner S; De Jonghe P; Schenck A; van de Warrenburg BP
Article: DISEASE MODELS & MECHANISMS. 2018;11(3):dmm032482
Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model
Foriel S; Beyrath J; Eidhof I; Rodenburg RJ; Schenck A; Smeitink JAM
Article: JOVE-JOURNAL OF VISUALIZED EXPERIMENTS. 2017;(129):55892
High-throughput Analysis of Locomotor Behavior in the Drosophila Island Assay
Eidhof I; Fenckova M; Elurbe DM; van de Warrenburg B; Nobau AC; Schenck A
Article: JOVE-JOURNAL OF VISUALIZED EXPERIMENTS. 2017;(123):55395
Two Algorithms for High-throughput and Multi-parametric Quantification of Drosophila Neuromuscular Junction Morphology
Castells-Nobau A; Nijhof B; Eidhof I; Wolf L; Scheffer-de Gooyert JM; Monedero I; Torroja L; van der Laak JAWM; Schenck A
Article: HUMAN MOLECULAR GENETICS. 2012;21(19):4151-4161
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; Koerner C; Gilissen C; Rodenburg RJ; Eidhof I; Van den Heuvel L; Thiel C; Wevers RA; Morava E; Veltman J; Lefeber DJ
Article: CANCER RESEARCH. 2012;72(16):4250-4261
TRPM7 Is Required for Breast Tumor Cell Metastasis
Middelbeek J; Kuipers AJ; Henneman L; Visser D; Eidhof I; van Horssen R; Wieringa B; Canisius SV; Zwart W; Wessels LF; Sweep FCGJ; Bult P; Span PN; van Leeuwen FN; Jalink K

Alla övriga publikationer

Corrigendum: BRAIN. 2020;143(9):e79
Erratum to: Reply: Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
Letter: BRAIN. 2020;143(6):e51
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
Eidhof I; Baets J; Kamsteeg E-J; Schenck A; van de Warrenburg BP
Editorial comment: CELL. 2018;175(3):890-890.e1
SnapShot: Biology of Genetic Ataxias
Eidhof I; van de Warrenburg BP; Schenck A

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Nyheter från KI

Kalenderhändelser från KI