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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Among authors: ruggieri m. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Ehlers-Danlos syndrome and neurological features: a review.
Savasta S, Merli P, Ruggieri M, Bianchi L, Spartà MV. Savasta S, et al. Among authors: ruggieri m. Childs Nerv Syst. 2011 Mar;27(3):365-71. doi: 10.1007/s00381-010-1256-1. Epub 2010 Aug 10. Childs Nerv Syst. 2011. PMID: 20697718 Review.
Ohtahara syndrome with emphasis on recent genetic discovery.
Pavone P, Spalice A, Polizzi A, Parisi P, Ruggieri M. Pavone P, et al. Among authors: ruggieri m. Brain Dev. 2012 Jun;34(6):459-68. doi: 10.1016/j.braindev.2011.09.004. Epub 2011 Oct 2. Brain Dev. 2012. PMID: 21967765 Review.
689 results