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15 results

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Page 1
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.
Crimella C, Baschirotto C, Arnoldi A, Tonelli A, Tenderini E, Airoldi G, Martinuzzi A, Trabacca A, Losito L, Scarlato M, Benedetti S, Scarpini E, Spinicci G, Bresolin N, Bassi MT. Crimella C, et al. Among authors: tenderini e. Clin Genet. 2012 Aug;82(2):157-64. doi: 10.1111/j.1399-0004.2011.01717.x. Epub 2011 Jun 21. Clin Genet. 2012. PMID: 21623771
From cohorts to molecules: Adverse impacts of endocrine disrupting mixtures.
Caporale N, Leemans M, Birgersson L, Germain PL, Cheroni C, Borbély G, Engdahl E, Lindh C, Bressan RB, Cavallo F, Chorev NE, D'Agostino GA, Pollard SM, Rigoli MT, Tenderini E, Tobon AL, Trattaro S, Troglio F, Zanella M, Bergman Å, Damdimopoulou P, Jönsson M, Kiess W, Kitraki E, Kiviranta H, Nånberg E, Öberg M, Rantakokko P, Rudén C, Söder O, Bornehag CG, Demeneix B, Fini JB, Gennings C, Rüegg J, Sturve J, Testa G. Caporale N, et al. Among authors: tenderini e. Science. 2022 Feb 18;375(6582):eabe8244. doi: 10.1126/science.abe8244. Epub 2022 Feb 18. Science. 2022. PMID: 35175820
Human Cortical Organoids Expose a Differential Function of GSK3 on Cortical Neurogenesis.
López-Tobón A, Villa CE, Cheroni C, Trattaro S, Caporale N, Conforti P, Iennaco R, Lachgar M, Rigoli MT, Marcó de la Cruz B, Lo Riso P, Tenderini E, Troglio F, De Simone M, Liste-Noya I, Macino G, Pagani M, Cattaneo E, Testa G. López-Tobón A, et al. Among authors: tenderini e. Stem Cell Reports. 2019 Nov 12;13(5):847-861. doi: 10.1016/j.stemcr.2019.09.005. Epub 2019 Oct 10. Stem Cell Reports. 2019. PMID: 31607568 Free PMC article.
KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes.
Barbagiovanni G, Germain PL, Zech M, Atashpaz S, Lo Riso P, D'Antonio-Chronowska A, Tenderini E, Caiazzo M, Boesch S, Jech R, Haslinger B, Broccoli V, Stewart AF, Winkelmann J, Testa G. Barbagiovanni G, et al. Among authors: tenderini e. Cell Rep. 2018 Oct 23;25(4):988-1001. doi: 10.1016/j.celrep.2018.09.067. Cell Rep. 2018. PMID: 30355503 Free PMC article.
Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability.
Mihailovich M, Germain PL, Shyti R, Pozzi D, Noberini R, Liu Y, Aprile D, Tenderini E, Troglio F, Trattaro S, Fabris S, Ciptasari U, Rigoli MT, Caporale N, D'Agostino G, Mirabella F, Vitriolo A, Capocefalo D, Skaros A, Franchini AV, Ricciardi S, Biunno I, Neri A, Nadif Kasri N, Bonaldi T, Aebersold R, Matteoli M, Testa G. Mihailovich M, et al. Among authors: tenderini e. J Clin Invest. 2024 Jul 15;134(14):e168982. doi: 10.1172/JCI168982. J Clin Invest. 2024. PMID: 39007270 Free PMC article.
YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.
Pereira MF, Finazzi V, Rizzuti L, Aprile D, Aiello V, Mollica L, Riva M, Soriani C, Dossena F, Shyti R, Castaldi D, Tenderini E, Carminho-Rodrigues MT, Bally JF, de Vries BBA, Gabriele M, Vitriolo A, Testa G. Pereira MF, et al. Among authors: tenderini e. bioRxiv [Preprint]. 2024 Feb 17:2024.02.16.580337. doi: 10.1101/2024.02.16.580337. bioRxiv. 2024. PMID: 38405909 Free PMC article. Preprint.
15 results