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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236.
Brain. 2017.
PMID: 29053855
Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
El Achkar CM, Harrer M, Smith L, Kelly M, Iqbal S, Maljevic S, Niturad CE, Vissers LELM, Poduri A, Yang E, Lal D, Lerche H, Møller RS, Olson HE; GABRB2 Working Group.
El Achkar CM, et al. Among authors: niturad ce.
Ann Neurol. 2021 Mar;89(3):573-586. doi: 10.1002/ana.25985. Epub 2020 Dec 24.
Ann Neurol. 2021.
PMID: 33325057
Free PMC article.
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Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S.
Johannesen K, et al. Among authors: niturad ce.
Neurology. 2016 Sep 13;87(11):1140-51. doi: 10.1212/WNL.0000000000003087. Epub 2016 Aug 12.
Neurology. 2016.
PMID: 27521439
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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortiu…
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May P, et al. Among authors: niturad ce.
Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.
Lancet Neurol. 2018.
PMID: 30033060
Free article.
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SRF modulates seizure occurrence, activity induced gene transcription and hippocampal circuit reorganization in the mouse pilocarpine epilepsy model.
Lösing P, Niturad CE, Harrer M, Reckendorf CMZ, Schatz T, Sinske D, Lerche H, Maljevic S, Knöll B.
Lösing P, et al. Among authors: niturad ce.
Mol Brain. 2017 Jul 17;10(1):30. doi: 10.1186/s13041-017-0310-2.
Mol Brain. 2017.
PMID: 28716058
Free PMC article.
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In vitro neuronal network activity as a new functional diagnostic system to detect effects of Cerebrospinal fluid from autoimmune encephalitis patients.
Koch H, Niturad CE, Theiss S, Bien CG, Elger C, Wandinger KP, Vincent A, Malter M, Körtvelyessy P, Lerche H, Dihné M.
Koch H, et al. Among authors: niturad ce.
Sci Rep. 2019 Apr 3;9(1):5591. doi: 10.1038/s41598-019-41849-z.
Sci Rep. 2019.
PMID: 30944364
Free PMC article.
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Brain endothelial TAK1 and NEMO safeguard the neurovascular unit.
Ridder DA, Wenzel J, Müller K, Töllner K, Tong XK, Assmann JC, Stroobants S, Weber T, Niturad C, Fischer L, Lembrich B, Wolburg H, Grand'Maison M, Papadopoulos P, Korpos E, Truchetet F, Rades D, Sorokin LM, Schmidt-Supprian M, Bedell BJ, Pasparakis M, Balschun D, D'Hooge R, Löscher W, Hamel E, Schwaninger M.
Ridder DA, et al.
J Exp Med. 2015 Sep 21;212(10):1529-49. doi: 10.1084/jem.20150165. Epub 2015 Sep 7.
J Exp Med. 2015.
PMID: 26347470
Free PMC article.
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TGF-β and LPS modulate ADP-induced migration of microglial cells through P2Y1 and P2Y12 receptor expression.
De Simone R, Niturad CE, De Nuccio C, Ajmone-Cat MA, Visentin S, Minghetti L.
De Simone R, et al. Among authors: niturad ce.
J Neurochem. 2010 Oct;115(2):450-9. doi: 10.1111/j.1471-4159.2010.06937.x. Epub 2010 Aug 30.
J Neurochem. 2010.
PMID: 20681951
Free article.
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