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Streptozotocin-Induced Type 1 and 2 Diabetes Mellitus Mouse Models Show Different Functional, Cellular and Molecular Patterns of Diabetic Cardiomyopathy.
Marino F, Salerno N, Scalise M, Salerno L, Torella A, Molinaro C, Chiefalo A, Filardo A, Siracusa C, Panuccio G, Ferravante C, Giurato G, Rizzo F, Torella M, Donniacuo M, De Angelis A, Viglietto G, Urbanek K, Weisz A, Torella D, Cianflone E. Marino F, et al. Among authors: torella m, torella a, torella d. Int J Mol Sci. 2023 Jan 6;24(2):1132. doi: 10.3390/ijms24021132. Int J Mol Sci. 2023. PMID: 36674648 Free PMC article.
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Calhoun JD, Aziz MC, Happ HC, Gunti J, Gleason C, Mohamed N, Zeng K, Hiller M, Bryant E, Mithal DS, Bellinski I, Kinsley L, Grimmel M, Schwaibold EMC, Smith-Hicks C, Chassevent A, Scala M, Accogli A, Torella A, Striano P, Capra V, Bird LM, Ben-Sahra I, Ekhilevich N, Hershkovitz T, Weiss K, Millichap J, Gerard EE, Carvill GL. Calhoun JD, et al. Among authors: torella a. Brain. 2022 Jun 30;145(6):1939-1948. doi: 10.1093/brain/awab451. Brain. 2022. PMID: 35773235 Free PMC article.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.
Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F. Accogli A, et al. Among authors: torella a. Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28815207 Free PMC article. No abstract available.
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).
Töpf A, Pyle A, Griffin H, Matalonga L, Schon K; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD; Sickmann A, Schara-Schmidt U, Hentschel A, Chinnery PF, Kölbel H, Roos A, Horvath R. Töpf A, et al. Eur J Hum Genet. 2021 Sep;29(9):1348-1353. doi: 10.1038/s41431-021-00851-8. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075209 Free PMC article.
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075208 Free PMC article.
Enhancer chip: detecting human copy number variations in regulatory elements.
Savarese M, Piluso G, Orteschi D, Di Fruscio G, Dionisi M, Blanco Fdel V, Torella A, Giugliano T, Iacomino M, Zollino M, Neri G, Nigro V. Savarese M, et al. Among authors: torella a. PLoS One. 2012;7(12):e52264. doi: 10.1371/journal.pone.0052264. Epub 2012 Dec 20. PLoS One. 2012. PMID: 23284961 Free PMC article.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM. Faqeih EA, et al. Among authors: torella a. Genet Med. 2023 Feb;25(2):100323. doi: 10.1016/j.gim.2022.10.006. Epub 2022 Nov 19. Genet Med. 2023. PMID: 36401616 Free article.
144 results