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Page 1
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Among authors: vogt h. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S. Lemke JR, et al. Among authors: vogt h. Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6. Neurology. 2016. PMID: 27164704 Free PMC article.
[New anticonvulsants].
Vogt H. Vogt H. Ther Umsch. 2001 Nov;58(11):660-7. doi: 10.1024/0040-5930.58.11.660. Ther Umsch. 2001. PMID: 11817160 German.
Prior exposure to alkylating agents negatively impacts testicular organoid formation in cells obtained from childhood cancer patients.
Cui Y, Harteveld F, Ba Omar HAM, Yang Y, Bjarnason R, Romerius P, Sundin M, Norén Nyström U, Langenskiöld C, Vogt H, Henningsohn L, Frisk P, Vepsäläinen K, Petersen C, Mitchell RT, Guo J, Alves-Lopes JP, Jahnukainen K, Stukenborg JB. Cui Y, et al. Among authors: vogt h. Hum Reprod Open. 2024 Aug 13;2024(3):hoae049. doi: 10.1093/hropen/hoae049. eCollection 2024. Hum Reprod Open. 2024. PMID: 39188568 Free PMC article.
Long-Lasting Response to Lorlatinib in Patients with ALK-Driven Relapsed or Refractory Neuroblastoma Monitored with Circulating Tumor DNA Analysis.
Ek T, Ibrahim RR, Vogt H, Georgantzi K, Träger C, Gaarder J, Djos A, Rahmqvist I, Mellström E, Pujol-Calderón F, Vannas C, Hansson L, Fagman H, Treis D, Fransson S, Österlund T, Chuang TP, Verhoeven BM, Ståhlberg A, Palmer RH, Hallberg B, Martinsson T, Kogner P, Dalin M. Ek T, et al. Among authors: vogt h. Cancer Res Commun. 2024 Sep 1;4(9):2553-2564. doi: 10.1158/2767-9764.CRC-24-0338. Cancer Res Commun. 2024. PMID: 39177282 Free PMC article.
495 results