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Year Number of Results
2012 2
2013 5
2014 8
2015 5
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2018 2
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2025 0

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23 results

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Page 1
The structure and regulation of human muscle α-actinin.
Ribeiro Ede A Jr, Pinotsis N, Ghisleni A, Salmazo A, Konarev PV, Kostan J, Sjöblom B, Schreiner C, Polyansky AA, Gkougkoulia EA, Holt MR, Aachmann FL, Zagrović B, Bordignon E, Pirker KF, Svergun DI, Gautel M, Djinović-Carugo K. Ribeiro Ede A Jr, et al. Cell. 2014 Dec 4;159(6):1447-60. doi: 10.1016/j.cell.2014.10.056. Epub 2014 Nov 26. Cell. 2014. PMID: 25433700 Free PMC article.
Clinical utility gene card for: Vici Syndrome.
Cullup T, Dionisi-Vici C, Kho AL, Yau S, Mohammed S, Gautel M, Jungbluth H. Cullup T, et al. Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.142. Epub 2013 Jul 10. Eur J Hum Genet. 2014. PMID: 23838600 Free PMC article. No abstract available.
Artifact-free high-density localization microscopy analysis.
Marsh RJ, Pfisterer K, Bennett P, Hirvonen LM, Gautel M, Jones GE, Cox S. Marsh RJ, et al. Nat Methods. 2018 Sep;15(9):689-692. doi: 10.1038/s41592-018-0072-5. Epub 2018 Jul 30. Nat Methods. 2018. PMID: 30061677
Pathogenic mechanisms in centronuclear myopathies.
Jungbluth H, Gautel M. Jungbluth H, et al. Front Aging Neurosci. 2014 Dec 19;6:339. doi: 10.3389/fnagi.2014.00339. eCollection 2014. Front Aging Neurosci. 2014. PMID: 25566070 Free PMC article. Review.
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
Hastings R, de Villiers CP, Hooper C, Ormondroyd L, Pagnamenta A, Lise S, Salatino S, Knight SJ, Taylor JC, Thomson KL, Arnold L, Chatziefthimiou SD, Konarev PV, Wilmanns M, Ehler E, Ghisleni A, Gautel M, Blair E, Watkins H, Gehmlich K. Hastings R, et al. Circ Cardiovasc Genet. 2016 Oct;9(5):426-435. doi: 10.1161/CIRCGENETICS.116.001431. Epub 2016 Sep 13. Circ Cardiovasc Genet. 2016. PMID: 27625337 Free PMC article.
23 results