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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

22 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Identification of a DLG3 stop mutation in the MRX20 family.
Huyghebaert J, Mateiu L, Elinck E, Van Rossem KE, Christiaenssen B, D'Incal CP, McCormack MK, Lazzarini A, Vandeweyer G, Kooy RF. Huyghebaert J, et al. Among authors: mateiu l. Eur J Hum Genet. 2024 Mar;32(3):317-323. doi: 10.1038/s41431-024-01537-7. Epub 2024 Jan 25. Eur J Hum Genet. 2024. PMID: 38273165
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.
D'Incal C, Van Dijck A, Ibrahim J, De Man K, Bastini L, Konings A, Elinck E, Gozes L, Marusic Z, Anicic M, Vukovic J, Van der Aa N, Mateiu L, Vanden Berghe W, Kooy RF. D'Incal C, et al. Among authors: mateiu l. Acta Neuropathol Commun. 2024 Apr 18;12(1):62. doi: 10.1186/s40478-024-01743-w. Acta Neuropathol Commun. 2024. PMID: 38637827 Free PMC article.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Meuwissen M, Verstraeten A, Ranza E, Iwaszkiewicz J, Bastiaansen M, Mateiu L, Nemegeer M, Meester JAN, Afenjar A, Amaral M, Ballhausen D, Barnett S, Barth M, Asselbergh B, Spaas K, Heeman B, Bassetti J, Blackburn P, Schaer M, Blanc X, Zoete V, Casas K, Courtin T, Doummar D, Guerry F, Keren B, Pappas J, Rabin R, Begtrup A, Shinawi M, Vulto-van Silfhout AT, Kleefstra T, Wagner M, Ziegler A, Schaefer E, Gerard B, De Bie CI, Holwerda SJB, Abbot MA, Antonarakis SE, Loeys B. Meuwissen M, et al. Among authors: mateiu l. Genet Med. 2022 Jul;24(7):1583-1591. doi: 10.1016/j.gim.2022.04.003. Epub 2022 May 2. Genet Med. 2022. PMID: 35499524 Free article.
Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations.
Pottier C, Mateiu L, Baker MC, DeJesus-Hernandez M, Teixeira Vicente C, Finch NA, Tian S, van Blitterswijk M, Murray ME, Ren Y, Petrucelli L, Oskarsson B, Biernacka JM, Graff-Radford NR, Boeve BF, Petersen RC, Josephs KA, Asmann YW, Dickson DW, Rademakers R. Pottier C, et al. Among authors: mateiu l. Brain. 2022 Jul 29;145(7):2472-2485. doi: 10.1093/brain/awab437. Brain. 2022. PMID: 34918030 Free PMC article.
The role of endothelial autocrine NRG1/ERBB4 signaling in cardiac remodeling.
Dugaucquier L, Feyen E, Mateiu L, Bruyns TAM, De Keulenaer GW, Segers VFM. Dugaucquier L, et al. Among authors: mateiu l. Am J Physiol Heart Circ Physiol. 2020 Aug 1;319(2):H443-H455. doi: 10.1152/ajpheart.00176.2020. Epub 2020 Jul 3. Am J Physiol Heart Circ Physiol. 2020. PMID: 32618511 Free article.
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
Bervoets S, Wei N, Erfurth ML, Yusein-Myashkova S, Ermanoska B, Mateiu L, Asselbergh B, Blocquel D, Kakad P, Penserga T, Thomas FP, Guergueltcheva V, Tournev I, Godenschwege T, Jordanova A, Yang XL. Bervoets S, et al. Among authors: mateiu l. Nat Commun. 2019 Nov 6;10(1):5045. doi: 10.1038/s41467-019-12909-9. Nat Commun. 2019. PMID: 31695036 Free PMC article.
22 results