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Page 1
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR.
Boßelmann CM, Leu C, Brünger T, Hoffmann L, Baldassari S, Chipaux M, Coras R, Kobow K, Hamer H, Delev D, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Becker K, Ferguson L, Busch RM, Baulac S, Nürnberg P, Najm I, Blümcke I, Lal D. Boßelmann CM, et al. Nat Commun. 2024 Nov 30;15(1):10429. doi: 10.1038/s41467-024-54911-w. Nat Commun. 2024. PMID: 39616148 Free PMC article.
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: bosselmann cm. Hum Mol Genet. 2024 Nov 13:ddae156. doi: 10.1093/hmg/ddae156. Online ahead of print. Hum Mol Genet. 2024. PMID: 39535073
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.
Galer PD, Parthasarathy S, Xian J, McKee JL, Ruggiero SM, Ganesan S, Kaufman MC, Cohen SR, Haag S, Chen C, Ojemann WKS, Kim D, Wilmarth O, Vaidiswaran P, Sederman C, Ellis CA, Gonzalez AK, Boßelmann CM, Lal D, Sederman R, Lewis-Smith D, Litt B, Helbig I. Galer PD, et al. Among authors: bosselmann cm. Genet Med. 2024 Nov;26(11):101211. doi: 10.1016/j.gim.2024.101211. Epub 2024 Jul 14. Genet Med. 2024. PMID: 39011766
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: bosselmann cm. medRxiv [Preprint]. 2024 May 7:2024.05.06.24306939. doi: 10.1101/2024.05.06.24306939. medRxiv. 2024. PMID: 38766179 Free PMC article. Preprint.
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Lyu H, Boßelmann CM, Johannesen KM, Koko M, Ortigoza-Escobar JD, Aguilera-Albesa S, Garcia-Navas Núñez D, Linnankivi T, Gaily E, van Ruiten HJA, Richardson R, Betzler C, Horvath G, Brilstra E, Geerdink N, Orsucci D, Tessa A, Gardella E, Fleszar Z, Schöls L, Lerche H, Møller RS, Liu Y. Lyu H, et al. Among authors: bosselmann cm. EBioMedicine. 2023 Dec;98:104855. doi: 10.1016/j.ebiom.2023.104855. Epub 2023 Oct 28. EBioMedicine. 2023. PMID: 38251463 Free PMC article.
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