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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.
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. Pediatr Neurol. 2023 Dec;149:84-92. doi: 10.1016/j.pediatrneurol.2023.09.005. Epub 2023 Sep 16. Pediatr Neurol. 2023. PMID: 37820543
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.
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: scorrano g. Genes (Basel). 2023 Nov 27;14(12):2143. doi: 10.3390/genes14122143. Genes (Basel). 2023. PMID: 38136965 Free PMC article. Review.
Neuroimaging features of WOREE syndrome: a mini-review of the literature.
Battaglia L, Scorrano G, Spiaggia R, Basile A, Palmucci S, Foti PV, Spatola C, Iacomino M, Marinangeli F, Francia E, Comisi F, Corsello A, Salpietro V, Vittori A, David E. Battaglia L, et al. Among authors: scorrano g. Front Pediatr. 2023 Dec 15;11:1301166. doi: 10.3389/fped.2023.1301166. eCollection 2023. Front Pediatr. 2023. PMID: 38161429 Free PMC article. Review.
91 results