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Page 1
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: meier jc. EMBO Mol Med. 2015 Dec;7(12):1580-94. doi: 10.15252/emmm.201505323. EMBO Mol Med. 2015. PMID: 26613940 Free PMC article.
Direct binding of GABAA receptor β2 and β3 subunits to gephyrin.
Kowalczyk S, Winkelmann A, Smolinsky B, Förstera B, Neundorf I, Schwarz G, Meier JC. Kowalczyk S, et al. Among authors: meier jc. Eur J Neurosci. 2013 Feb;37(4):544-54. doi: 10.1111/ejn.12078. Epub 2012 Dec 4. Eur J Neurosci. 2013. PMID: 23205938
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium; Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F. Reinthaler EM, et al. Among authors: meier jc. Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28. Ann Neurol. 2015. PMID: 25726841
RNA Editing-Systemic Relevance and Clue to Disease Mechanisms?
Meier JC, Kankowski S, Krestel H, Hetsch F. Meier JC, et al. 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.
S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency.
Kumar A, Dejanovic B, Hetsch F, Semtner M, Fusca D, Arjune S, Santamaria-Araujo JA, Winkelmann A, Ayton S, Bush AI, Kloppenburg P, Meier JC, Schwarz G, Belaidi AA. Kumar A, et al. Among authors: meier jc. J Clin Invest. 2017 Dec 1;127(12):4365-4378. doi: 10.1172/JCI89885. Epub 2017 Nov 6. J Clin Invest. 2017. PMID: 29106383 Free PMC article.
92 results