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Year Number of Results
2014 1
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42 results

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Page 1
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.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 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.
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S, Abou-Khalil BW, Afawi Z, Ali QZ, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Arslan M, Auce P, Bahlo M, Baker MD, Balagura G, Balestrini S, Banks E, Barba C, Barboza K, Bartolomei F, Bass N, Baum LW, Baumgartner TH, Baykan B, Bebek N, Becker F, Bennett CA, Beydoun A, Bianchini C, Bisulli F, Blackwood D, Blatt I, Borggräfe I, Bosselmann C, Braatz V, Brand H, Brockmann K, Buono RJ, Busch RM, Caglayan SH, Canafoglia L, Canavati C, Castellotti B, Cavalleri GL, Cerrato F, Chassoux F, Cherian C, Cherny SS, Cheung CL, Chou IJ, Chung SK, Churchhouse C, Ciullo V, Clark PO, Cole AJ, Cosico M, Cossette P, Cotsapas C, Cusick C, Daly MJ, Davis LK, Jonghe P, Delanty N, Dennig D, Depondt C, Derambure P, Devinsky O, Di Vito L, Dickerson F, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Ellis CA, Epstein L, Evans M, Faucon A, Feng YA, Ferguson L, Ferraro TN, Da Silva IF, Ferri L, Feucht M, Fields MC, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, French JA, Freri E, Fu JM, Gabriel S, Gagliardi M, Gambardella A, Gauthier L, Giangregorio T, Gili T, Glauser TA, Goldberg E, Goldman A, Goldstein DB, Granata T, Grant R, Greenberg DA, Guerrini R, Gundogdu-Eke… See abstract for full author list ➔ Chen S, et al. Among authors: bosselmann c. medRxiv [Preprint]. 2024 Sep 20:2023.02.22.23286310. doi: 10.1101/2023.02.22.23286310. medRxiv. 2024. Update in: Nat Neurosci. 2024 Oct;27(10):1864-1879. doi: 10.1038/s41593-024-01747-8 PMID: 36865150 Free PMC article. Updated. Preprint.
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.
42 results