Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

313 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
D'Incal CP, Cappuyns E, Choukri K, De Man K, Szrama K, Konings A, Bastini L, Van Meel K, Buys A, Gabriele M, Rizzuti L, Vitriolo A, Testa G, Mohn F, Bühler M, Van der Aa N, Van Dijck A, Kooy RF, Berghe WV. D'Incal CP, et al. Among authors: gabriele m. Sci Rep. 2024 Jun 26;14(1):14710. doi: 10.1038/s41598-024-65608-x. Sci Rep. 2024. PMID: 38926592 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: gabriele m. bioRxiv [Preprint]. 2024 Feb 17:2024.02.16.580337. doi: 10.1101/2024.02.16.580337. bioRxiv. 2024. PMID: 38405909 Free PMC article. Preprint.
High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons.
Cavallo F, Troglio F, Fagà G, Fancelli D, Shyti R, Trattaro S, Zanella M, D'Agostino G, Hughes JM, Cera MR, Pasi M, Gabriele M, Lazzarin M, Mihailovich M, Kooy F, Rosa A, Mercurio C, Varasi M, Testa G. Cavallo F, et al. Among authors: gabriele m. Mol Autism. 2020 Nov 19;11(1):88. doi: 10.1186/s13229-020-00387-6. Mol Autism. 2020. PMID: 33208191 Free PMC article.
Benchmarking brain organoid recapitulation of fetal corticogenesis.
Cheroni C, Trattaro S, Caporale N, López-Tobón A, Tenderini E, Sebastiani S, Troglio F, Gabriele M, Bressan RB, Pollard SM, Gibson WT, Testa G. Cheroni C, et al. Among authors: gabriele m. Transl Psychiatry. 2022 Dec 20;12(1):520. doi: 10.1038/s41398-022-02279-0. Transl Psychiatry. 2022. PMID: 36539399 Free PMC article.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. Gabriele M, et al. Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006. Am J Hum Genet. 2017. PMID: 28575647 Free PMC article.
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Linda K, Lewerissa EI, Verboven AHA, Gabriele M, Frega M, Klein Gunnewiek TM, Devilee L, Ulferts E, Hommersom M, Oudakker A, Schoenmaker C, van Bokhoven H, Schubert D, Testa G, Koolen DA, de Vries BBA, Nadif Kasri N. Linda K, et al. Among authors: gabriele m. Autophagy. 2022 Feb;18(2):423-442. doi: 10.1080/15548627.2021.1936777. Epub 2021 Jul 21. Autophagy. 2022. PMID: 34286667 Free PMC article.
313 results