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A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Stödberg T, Hennings JC, Bergmann M, Altmüller J, Thiele H, Wetzel A, Nürnberg P, Timmerman V, De Jonghe P, Blum R, Schaible HG, Weis J, Heinemann SH, Hübner CA, Kurth I. Leipold E, et al. Among authors: blum r. Nat Genet. 2013 Nov;45(11):1399-404. doi: 10.1038/ng.2767. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036948
Role of Na(v)1.9 in activity-dependent axon growth in motoneurons.
Subramanian N, Wetzel A, Dombert B, Yadav P, Havlicek S, Jablonka S, Nassar MA, Blum R, Sendtner M. Subramanian N, et al. Among authors: blum r. Hum Mol Genet. 2012 Aug 15;21(16):3655-67. doi: 10.1093/hmg/dds195. Epub 2012 May 28. Hum Mol Genet. 2012. PMID: 22641814
Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease.
Lüningschrör P, Binotti B, Dombert B, Heimann P, Perez-Lara A, Slotta C, Thau-Habermann N, R von Collenberg C, Karl F, Damme M, Horowitz A, Maystadt I, Füchtbauer A, Füchtbauer EM, Jablonka S, Blum R, Üçeyler N, Petri S, Kaltschmidt B, Jahn R, Kaltschmidt C, Sendtner M. Lüningschrör P, et al. Among authors: r von collenberg c, blum r. Nat Commun. 2017 Oct 30;8(1):678. doi: 10.1038/s41467-017-00689-z. Nat Commun. 2017. PMID: 29084947 Free PMC article.
818 results