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47 results

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Page 1
Metabolic epilepsy: an update.
Papetti L, Parisi P, Leuzzi V, Nardecchia F, Nicita F, Ursitti F, Marra F, Paolino MC, Spalice A. Papetti L, et al. Among authors: nardecchia f. Brain Dev. 2013 Oct;35(9):827-41. doi: 10.1016/j.braindev.2012.11.010. Epub 2012 Dec 27. Brain Dev. 2013. PMID: 23273990 Review.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights.
Scala I, Brodosi L, Gueraldi D, Manti F, Rovelli V, Zuvadelli J, Agnelli G, Cazzorla C, Nardecchia F, Giammanco A, Biasucci G. Scala I, et al. Among authors: nardecchia f. Mol Genet Metab. 2024 May;142(1):108151. doi: 10.1016/j.ymgme.2024.108151. Epub 2024 Feb 2. Mol Genet Metab. 2024. PMID: 38522180 Free article.
Erythrocyte-mediated delivery of recombinant enzymes.
Leuzzi V, Rossi L, Gabucci C, Nardecchia F, Magnani M. Leuzzi V, et al. Among authors: nardecchia f. J Inherit Metab Dis. 2016 Jul;39(4):519-30. doi: 10.1007/s10545-016-9926-0. Epub 2016 Mar 30. J Inherit Metab Dis. 2016. PMID: 27026098 Review.
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.
47 results