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GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC. Carvill GL, et al. Among authors: hartmann c. Neurology. 2014 Apr 8;82(14):1245-53. doi: 10.1212/WNL.0000000000000291. Epub 2014 Mar 12. Neurology. 2014. PMID: 24623842 Free PMC article.
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki AE, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Stephani U, Striano P, van Kempen MJ, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, De Jonghe P, Helbig I, Suls A; EuroEPINOMICS‐RES Dravet working group. Djémié T, et al. Among authors: hartmann c. Mol Genet Genomic Med. 2016 Apr 14;4(4):457-64. doi: 10.1002/mgg3.217. eCollection 2016 Jul. Mol Genet Genomic Med. 2016. PMID: 27465585 Free PMC article.
Exploratory digital outcome measures of motor sign progression in Parkinson's disease patients treated with prasinezumab.
Taylor KI, Lipsmeier F, Scelsi MA, Volkova-Volkmar E, Rukina D, Popp W, Lambrecht S, Anzures-Cabrera J, Summers D, Abt M, Monnet A, Kilchenmann T, Schjodt-Eriksen J, Essioux L, Kustermann T, Zago W, Svoboda H, Nikolcheva T, Postuma RB, Pagano G, Lindemann M; PASADENA Investigators; Prasinezumab Study Group. Taylor KI, et al. NPJ Digit Med. 2025 Jun 16;8(1):365. doi: 10.1038/s41746-025-01572-8. NPJ Digit Med. 2025. PMID: 40523921 Free PMC article.
Outcome-associated factors in a molecularly defined cohort of central neurocytoma.
Krech M, Muench A, Teichmann D, Kuzman P, Suwala AK, Ippen FM, Müther M, Weber KJ, Wenger-Alakmeh K, Onken J, Vajkoczy P, Behling F, May SA, Ntoulias G, Krauss JK, Atallah O, Esmaeilzadeh M, Mueller WC, Heppner FL, Radbruch H, Dittmayer C, Stenzel W, Koch A, Capper D, Kaul D, Paulus W, Plate KH, Steinbach JP, Czabanka M, Beschorner R, von Deimling A, Bockmayr M, Neumann JE, Brandner S, Krieger T, Hartmann C, Thomas C, Schweizer L. Krech M, et al. Among authors: hartmann c. Acta Neuropathol. 2025 Jun 11;149(1):61. doi: 10.1007/s00401-025-02894-3. Acta Neuropathol. 2025. PMID: 40498174 Free PMC article.
Advancing CNS tumor diagnostics with expanded DNA methylation-based classification.
Sill M, Schrimpf D, Patel A, Sturm D, Jäger N, Sievers P, Schweizer L, Banan R, Reuss D, Suwala A, Korshunov A, Stichel D, Wefers AK, Hau AC, Boldt H, Harter PN, Abdullaev Z, Benhamida J, Teichmann D, Koch A, Hench J, Frank S, Hasselblatt M, Mansouri S, Díaz de Ståhl T, Serrano J, Ecker J, Selt F, Taylor M, Ramaswamy V, Cavalli F, Berghoff AS, Bison B, Blattner-Johnson M, Buchhalter I, Buslei R, Calaminus G, Dikow N, Dohmen H, Euskirchen P, Fleischhack G, Gajjar A, Gerber NU, Gessi M, Gielen GH, Gnekow A, Gottardo NG, Haberler C, Hamelmann S, Hans V, Hansford JR, Hartmann C, Heppner FL, Driever PH, von Hoff K, Thomale UW, Tippelt S, Frühwald MC, Kramm CM, Schüller U, Schittenhelm J, Schuhmann MU, Stein M, Ketteler P, Ladanyi M, Jabado N, Jones BC, Jones C, Karajannis MA, Ketter R, Kohlhof P, Kordes U, Reinhardt A, Kölsche C, Lamszus K, Lichter P, Maas SLN, Mawrin C, Milde T, Mittelbronn M, Monoranu CM, Mueller W, Mynarek M, Northcott PA, Pajtler KW, Paulus W, Perry A, Blümcke I, Plate KH, Platten M, Preusser M, Pietsch T, Prinz M, Reifenberger G, Kristensen BW, Kool M, Hovestadt V, Ellison DW, Jacques TS, Varlet P, Etminan N, Acker T, Weller M, White CL, Witt O, Herold-Mend… See abstract for full author list ➔ Sill M, et al. Among authors: hartmann c. medRxiv [Preprint]. 2025 May 29:2025.05.28.25328344. doi: 10.1101/2025.05.28.25328344. medRxiv. 2025. PMID: 40492071 Free PMC article. Preprint.
1,142 results