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Page 1
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C, Abilova Z, Nuralinov O, Panzitt K, Akhmetova A, Rakhimova S, Kozhamkulov U, Kairov U, Molkenov A, Seisenova A, Trajanoski S, Abildinova Rashbayeva G, Kaussova G, Windpassinger C, Lee JH, Zhumadilov Z, Bekbossynova M, Akilzhanova A. Guelly C, et al. Among authors: windpassinger c. PeerJ. 2021 Jan 19;9:e10711. doi: 10.7717/peerj.10711. eCollection 2021. PeerJ. 2021. PMID: 33552729 Free PMC article.
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M, Weger M, Fink-Puches R, Papić L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C. Auer-Grumbach M, et al. Among authors: windpassinger c. Brain. 2011 Jun;134(Pt 6):1839-52. doi: 10.1093/brain/awr076. Epub 2011 May 15. Brain. 2011. PMID: 21576112 Free PMC article.
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Fischer C, Trajanoski S, Papić L, Windpassinger C, Bernert G, Freilinger M, Schabhüttl M, Arslan-Kirchner M, Javaher-Haghighi P, Plecko B, Senderek J, Rauscher C, Löscher WN, Pieber TR, Janecke AR, Auer-Grumbach M. Fischer C, et al. Among authors: windpassinger c. J Neurol. 2012 Mar;259(3):515-23. doi: 10.1007/s00415-011-6213-8. Epub 2011 Sep 4. J Neurol. 2012. PMID: 21892769 Free PMC article.
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
Binder JS, Weidemann F, Schoser B, Niemann M, Machann W, Beer M, Plank G, Schmidt A, Bisping E, Poparic I, Lafer I, Stojakovic T, Quasthoff S, Vincent JB, Rienmueller R, Speicher MR, Berghold A, Pieske B, Windpassinger C. Binder JS, et al. Among authors: windpassinger c. Circ Cardiovasc Genet. 2012 Oct 1;5(5):490-502. doi: 10.1161/CIRCGENETICS.111.962332. Epub 2012 Aug 25. Circ Cardiovasc Genet. 2012. PMID: 22923418
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. 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: windpassinger c. 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: windpassinger c. Ann Neurol. 2005 Mar;57(3):415-24. doi: 10.1002/ana.20410. Ann Neurol. 2005. PMID: 15732094
86 results