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Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis.
JCI Insight. 2021 Dec 8;6(23):e150120. doi: 10.1172/jci.insight.150120.
JCI Insight. 2021.
PMID: 34877936
Free PMC article.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM.
Niggl E, et al.
Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005.
Am J Hum Genet. 2023.
PMID: 37541189
Free PMC article.
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Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.
Zampeta FI, Sonzogni M, Niggl E, Lendemeijer B, Smeenk H, de Vrij FMS, Kushner SA, Distel B, Elgersma Y.
Zampeta FI, et al. Among authors: niggl e.
Hum Mol Genet. 2020 Nov 4;29(18):3032-3043. doi: 10.1093/hmg/ddaa194.
Hum Mol Genet. 2020.
PMID: 32879944
Free PMC article.
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Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development.
Perenthaler E, Yousefi S, Niggl E, Barakat TS.
Perenthaler E, et al. Among authors: niggl e.
Front Cell Neurosci. 2019 Jul 31;13:352. doi: 10.3389/fncel.2019.00352. eCollection 2019.
Front Cell Neurosci. 2019.
PMID: 31417368
Free PMC article.
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