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Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors.
Montanucci L, Brünger T, Bhattarai N, Boßelmann CM, Kim S, Allen JP, Zhang J, Klöckner C, Fariselli P, May P, Lemke JR, Myers SJ, Yuan H, Traynelis SF, Lal D. Montanucci L, et al. Among authors: may p. medRxiv [Preprint]. 2024 May 7:2024.05.06.24306939. doi: 10.1101/2024.05.06.24306939. medRxiv. 2024. PMID: 38766179 Free PMC article. Preprint.
Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Montanucci L, Brünger T, Bhattarai N, Boßelmann CM, Kim S, Allen JP, Zhang J, Klöckner C, Krey I, Fariselli P, May P, Lemke JR, Myers SJ, Yuan H, Traynelis SF, Lal D. Montanucci L, et al. Among authors: may p. Hum Mol Genet. 2024 Nov 13:ddae156. doi: 10.1093/hmg/ddae156. Online ahead of print. Hum Mol Genet. 2024. PMID: 39535073
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG, Brilstra EH, van Kempen MJ, Van't Slot R, Nijman IJ, Afawi Z, De Jonghe P, Djémié T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki AE, Lemke JR, Marini C, Mei D, Møller RS, Pendziwiat M, Stamberger H, Suls A, Weckhuysen S; EuroEPINOMICS RES Consortium; Koeleman BP. de Kovel CG, et al. Mol Genet Genomic Med. 2016 Jul 30;4(5):568-80. doi: 10.1002/mgg3.235. eCollection 2016 Sep. Mol Genet Genomic Med. 2016. PMID: 27652284 Free PMC article.
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
EuroEPINOMICS-RES Consortium. Electronic address: [email protected]; Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RES Consortium. EuroEPINOMICS-RES Consortium. Electronic address: [email protected], et al. Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.012. Am J Hum Genet. 2017. PMID: 28061363 Free PMC article. No abstract available.
The phenotypic spectrum of SCN8A encephalopathy.
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP. Larsen J, et al. Neurology. 2015 Feb 3;84(5):480-9. doi: 10.1212/WNL.0000000000001211. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568300 Free PMC article.
Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.
Santolini I, Celli R, Cannella M, Imbriglio T, Guiducci M, Parisi P, Schubert J, Iacomino M, Zara F, Lerche H; EuroEPINOMICS CoGIE Consortium; Genetic Commission of Italian League Against Epilepsy (LICE); Moyanova S, Ngomba RT, van Luijtelaar G, Battaglia G, Bruno V, Striano P, Nicoletti F. Santolini I, et al. Epilepsia. 2017 Nov;58(11):1993-2001. doi: 10.1111/epi.13898. Epub 2017 Sep 15. Epilepsia. 2017. PMID: 28913875
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project. Lerche H, et al. N Engl J Med. 2019 Apr 18;380(16):e24. doi: 10.1056/NEJMc1805100. N Engl J Med. 2019. PMID: 30995385 Free article. No abstract available.
Physician Engagement in Addressing Health-Related Social Needs and Burnout.
Tabata-Kelly M, Hu X, Dill MJ, Alberti PM, Bullock K, Crown W, Fair M, May P, Ortega P, Perloff J. Tabata-Kelly M, et al. Among authors: may p. JAMA Netw Open. 2024 Dec 2;7(12):e2452152. doi: 10.1001/jamanetworkopen.2024.52152. JAMA Netw Open. 2024. PMID: 39786406 Free PMC article.
1,522 results