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Page 1
Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene.
Ruotolo G, D'Anzi A, Giovenale AMG, Giacometti C, Ferrari D, Vulcano E, D'Asdia C, Lattante S, Sabatelli M, Codazzi F, Consalez G, Marano M, Di Lazzaro V, Pennuto M, Vescovi A, Rosati J. Ruotolo G, et al. Among authors: d anzi a. Stem Cell Res. 2024 Aug 22;81:103540. doi: 10.1016/j.scr.2024.103540. Online ahead of print. Stem Cell Res. 2024. PMID: 39191178 Free article.
CircHTT(2,3,4,5,6) - co-evolving with the HTT CAG-repeat tract - modulates Huntington's disease phenotypes.
Morandell J, Monziani A, Lazioli M, Donzel D, Döring J, Oss Pegorar C, D'Anzi A, Pellegrini M, Mattiello A, Bortolotti D, Bergonzoni G, Tripathi T, Mattis VB, Kovalenko M, Rosati J, Dieterich C, Dassi E, Wheeler VC, Ellederová Z, Wilusz JE, Viero G, Biagioli M. Morandell J, et al. Among authors: d anzi a. Mol Ther Nucleic Acids. 2024 Jun 3;35(3):102234. doi: 10.1016/j.omtn.2024.102234. eCollection 2024 Sep 10. Mol Ther Nucleic Acids. 2024. PMID: 38974999 Free PMC article.
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene.
Ruotolo G, D'Anzi A, Casamassa A, Mazzoni M, Ferrari D, Lombardi I, Carletti RM, D'Asdia C, Torrente I, Frezza K, Lattante S, Sabatelli M, Pennuto M, Vescovi AL, Rosati J. Ruotolo G, et al. Among authors: d anzi a. Stem Cell Res. 2024 Jun;77:103412. doi: 10.1016/j.scr.2024.103412. Epub 2024 Apr 10. Stem Cell Res. 2024. PMID: 38613988 Free article.
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.
Perciballi E, Bovio F, Rosati J, Arrigoni F, D'Anzi A, Lattante S, Gelati M, De Marchi F, Lombardi I, Ruotolo G, Forcella M, Mazzini L, D'Alfonso S, Corrado L, Sabatelli M, Conte A, De Gioia L, Martino S, Vescovi AL, Fusi P, Ferrari D. Perciballi E, et al. Among authors: d anzi a. Antioxidants (Basel). 2022 Apr 22;11(5):815. doi: 10.3390/antiox11050815. Antioxidants (Basel). 2022. PMID: 35624679 Free PMC article.
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Piceci-Sparascio F, Palencia-Campos A, Soto-Bielicka P, D'Anzi A, Guida V, Rosati J, Caparros-Martin JA, Torrente I, D'Asdia MC, Versacci P, Briuglia S, Lapunzina P, Tartaglia M, Marino B, Digilio MC, Ruiz-Perez VL, De Luca A. Piceci-Sparascio F, et al. Among authors: d anzi a. Hum Mutat. 2020 Dec;41(12):2087-2093. doi: 10.1002/humu.24112. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906221
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