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RNA Editing-Systemic Relevance and Clue to Disease Mechanisms?
Meier JC, Kankowski S, Krestel H, Hetsch F. Meier JC, et al. Among authors: hetsch f. Front Mol Neurosci. 2016 Nov 23;9:124. doi: 10.3389/fnmol.2016.00124. eCollection 2016. Front Mol Neurosci. 2016. PMID: 27932948 Free PMC article. Review.
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
Dejanovic B, Djémié T, Grünewald N, Suls A, Kress V, Hetsch F, Craiu D, Zemel M, Gormley P, Lal D; EuroEPINOMICS Dravet working group; Myers CT, Mefford HC, Palotie A, Helbig I, Meier JC, De Jonghe P, Weckhuysen S, Schwarz G. Dejanovic B, et al. Among authors: hetsch f. EMBO Mol Med. 2015 Dec;7(12):1580-94. doi: 10.15252/emmm.201505323. EMBO Mol Med. 2015. PMID: 26613940 Free PMC article.
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
Dejanovic B, Djémié T, Grünewald N, Suls A, Kress V, Hetsch F, Craiu D, Zemel M, Gormley P, Lal D; EuroEPINOMICS Dravet working group; Myers CT, Mefford HC, Palotie A, Helbig I, Meier JC, De Jonghe P, Weckhuysen S, Schwarz G. Dejanovic B, et al. Among authors: hetsch f. EMBO Mol Med. 2017 Dec;9(12):1764. doi: 10.15252/emmm.201708525. EMBO Mol Med. 2017. PMID: 29196314 Free PMC article.
A Novel RNA Editing Sensor Tool and a Specific Agonist Determine Neuronal Protein Expression of RNA-Edited Glycine Receptors and Identify a Genomic APOBEC1 Dimorphism as a New Genetic Risk Factor of Epilepsy.
Kankowski S, Förstera B, Winkelmann A, Knauff P, Wanker EE, You XA, Semtner M, Hetsch F, Meier JC. Kankowski S, et al. Among authors: hetsch f. Front Mol Neurosci. 2018 Jan 11;10:439. doi: 10.3389/fnmol.2017.00439. eCollection 2017. Front Mol Neurosci. 2018. PMID: 29375302 Free PMC article.
Corrigendum: A Novel RNA Editing Sensor Tool and a Specific Agonist Determine Neuronal Protein Expression of RNA-Edited Glycine Receptors and Identify a Genomic APOBEC1 Dimorphism as a New Genetic Risk Factor of Epilepsy.
Kankowski S, Förstera B, Winkelmann A, Knauff P, Wanker EE, You XA, Semtner M, Hetsch F, Meier JC. Kankowski S, et al. Among authors: hetsch f. Front Mol Neurosci. 2019 Apr 24;12:103. doi: 10.3389/fnmol.2019.00103. eCollection 2019. Front Mol Neurosci. 2019. PMID: 31105523 Free PMC article.
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy.
Macha A, Liebsch F, Fricke S, Hetsch F, Neuser F, Johannes L, Kress V, Djémié T, Santamaria-Araujo JA, Vilain C, Aeby A, Van Bogaert P, Dejanovic B, Weckhuysen S, Meier JC, Schwarz G. Macha A, et al. Among authors: hetsch f. Hum Mol Genet. 2022 Mar 21;31(6):901-913. doi: 10.1093/hmg/ddab298. Hum Mol Genet. 2022. PMID: 34617111
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