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NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
Gambadauro A, Mangano GD, Galletta K, Granata F, Riva A, Massella L, Guzzo I, Farello G, Scorrano G, Di Francesco L, Di Donato G, Ianni C, Di Ludovico A, La Bella S, Striano P, Efthymiou S, Houlden H, Nardello R, Chimenz R. Gambadauro A, et al. Among authors: di francesco l. Genes (Basel). 2023 Nov 27;14(12):2143. doi: 10.3390/genes14122143. Genes (Basel). 2023. PMID: 38136965 Free PMC article. Review.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.
Scorrano G, D'Onofrio G, Accogli A, Severino M, Buchert R, Kotzaeridou U, Iapadre G, Farello G, Iacomino M, Dono F, Di Francesco L, Fiorile MF, La Bella S, Corsello A, Calì E, Di Rosa G, Gitto E, Verrotti A, Fortuna S, Soler MA, Chiarelli F, Oehl-Jaschkowitz B, Haack TB, Zara F, Striano P, Salpietro V. Scorrano G, et al. Among authors: di francesco l. Pediatr Neurol. 2023 Dec;149:84-92. doi: 10.1016/j.pediatrneurol.2023.09.005. Epub 2023 Sep 16. Pediatr Neurol. 2023. PMID: 37820543
219 results