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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: 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.
Real-world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study.
Kühne F, Becker LL, Bast T, Bertsche A, Borggraefe I, Boßelmann CM, Fahrbach J, Hertzberg C, Herz NA, Hirsch M, Holtkamp M, Janello C, Kluger GJ, Kurlemann G, Lerche H, Makridis KL, von Podewils F, Pringsheim M, Schubert-Bast S, Schulz J, Schulze-Bonhage A, Steinbart D, Steinhoff BJ, Strzelczyk A, Syrbe S, De Vries H, Wagner C, Wagner J, Wilken B, Prager C, Klotz KA, Kaindl AM. Kühne F, et al. Among authors: bosselmann cm. Epilepsia Open. 2023 Jun;8(2):360-370. doi: 10.1002/epi4.12699. Epub 2023 Feb 6. Epilepsia Open. 2023. PMID: 36693811 Free PMC article.
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.
Seiffert S, Pendziwiat M, Bierhals T, Goel H, Schwarz N, van der Ven A, Boßelmann CM, Lemke J, Syrbe S, Willemsen MH, Hedrich UBS, Helbig I, Weber Y. Seiffert S, et al. Among authors: bosselmann cm. EBioMedicine. 2022 Sep;83:104234. doi: 10.1016/j.ebiom.2022.104234. Epub 2022 Aug 24. EBioMedicine. 2022. PMID: 36029553 Free PMC article.
17 results