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Membrane topology of the human seipin protein.
Lundin C, Nordström R, Wagner K, Windpassinger C, Andersson H, von Heijne G, Nilsson I. Lundin C, et al. Among authors: wagner k. FEBS Lett. 2006 Apr 17;580(9):2281-4. doi: 10.1016/j.febslet.2006.03.040. Epub 2006 Mar 27. FEBS Lett. 2006. PMID: 16574104 Free article.
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Windpassinger C, et al. Among authors: wagner k. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22. Nat Genet. 2004. PMID: 14981520
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
Irobi J, Van den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P. Irobi J, et al. Among authors: wagner k. Brain. 2004 Sep;127(Pt 9):2124-30. doi: 10.1093/brain/awh232. Epub 2004 Jul 8. Brain. 2004. PMID: 15242882
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group. Auer-Grumbach M, et al. Among authors: wagner k. Ann Neurol. 2005 Mar;57(3):415-24. doi: 10.1002/ana.20410. Ann Neurol. 2005. PMID: 15732094
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Kaufmann L, Pilic J, Auinger L, Mayer AL, Blatterer J, Semmler-Bruckner J, Abbas S, Rehman K, Ayaz M, Graier WF, Malli R, Petek E, Wagner K, Al Kaissi A, Khan MA, Windpassinger C. Kaufmann L, et al. Among authors: wagner k. Clin Genet. 2023 Oct;104(4):491-496. doi: 10.1111/cge.14381. Epub 2023 Jun 4. Clin Genet. 2023. PMID: 37270786
3,031 results