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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. 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.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
Virtual Reality Technology to Enhance Conventional Rehabilitation Program: Results of a Single-Blind, Randomized, Controlled Pilot Study in Patients with Global Developmental Delay.
Settimo C, De Cola MC, Pironti E, Muratore R, Giambò FM, Alito A, Tresoldi M, La Fauci M, De Domenico C, Tripodi E, Impallomeni C, Quartarone A, Cucinotta F. Settimo C, et al. Among authors: pironti e. J Clin Med. 2023 Jul 28;12(15):4962. doi: 10.3390/jcm12154962. J Clin Med. 2023. PMID: 37568364 Free PMC article.
Lack of pathogenic mutations in six patients with MMPSI.
De Filippo MR, Rizzo F, Marchese G, Giurato G, Nassa G, Ravo M, Tarallo R, Pironti E, Vecchi M, Crichiutti G, Capizzi G, Verrotti A, Weisz A, Coppola G. De Filippo MR, et al. Among authors: pironti e. Epilepsy Res. 2014 Feb;108(2):340-4. doi: 10.1016/j.eplepsyres.2013.11.007. Epub 2013 Nov 16. Epilepsy Res. 2014. PMID: 24315024
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