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MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search.
Rappaport N, Twik M, Plaschkes I, Nudel R, Iny Stein T, Levitt J, Gershoni M, Morrey CP, Safran M, Lancet D. Rappaport N, et al. Among authors: Gershoni M. Nucleic Acids Res. 2017 Jan 4;45(D1):D877-D887. doi: 10.1093/nar/gkw1012. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899610 Free PMC article. Review.
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.
Riemersma M, Mandel H, van Beusekom E, Gazzoli I, Roscioli T, Eran A, Gershoni-Baruch R, Gershoni M, Pietrokovski S, Vissers LE, Lefeber DJ, Willemsen MA, Wevers RA, van Bokhoven H. Riemersma M, et al. Among authors: Gershoni M. Neurology. 2015 May 26;84(21):2177-82. doi: 10.1212/WNL.0000000000001615. Epub 2015 May 1. Neurology. 2015. PMID: 25934851
A cancer associated somatic mutation in LC3B attenuates its binding to E1-like ATG7 protein and subsequent lipidation.
Nuta GC, Gilad Y, Gershoni M, Sznajderman A, Schlesinger T, Bialik S, Eisenstein M, Pietrokovski S, Kimchi A. Nuta GC, et al. Among authors: Gershoni M. Autophagy. 2019 Mar;15(3):438-452. doi: 10.1080/15548627.2018.1525476. Epub 2018 Oct 8. Autophagy. 2019. PMID: 30238850 Free PMC article.
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