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Page 1
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.
Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
Geuens T, De Winter V, Rajan N, Achsel T, Mateiu L, Almeida-Souza L, Asselbergh B, Bouhy D, Auer-Grumbach M, Bagni C, Timmerman V. Geuens T, et al. Among authors: mateiu l. Acta Neuropathol Commun. 2017 Jan 11;5(1):5. doi: 10.1186/s40478-016-0407-3. Acta Neuropathol Commun. 2017. PMID: 28077174 Free PMC article.
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
Peeters K, Palaima P, Pelayo-Negro AL, García A, Gallardo E, García-Barredo R, Mateiu L, Baets J, Menten B, De Vriendt E, De Jonghe P, Timmerman V, Infante J, Berciano J, Jordanova A. Peeters K, et al. Among authors: mateiu l. Ann Neurol. 2016 Dec;80(6):823-833. doi: 10.1002/ana.24775. Epub 2016 Sep 30. Ann Neurol. 2016. PMID: 27686364
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.
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.
Verheijen J, Van den Bossche T, van der Zee J, Engelborghs S, Sanchez-Valle R, Lladó A, Graff C, Thonberg H, Pastor P, Ortega-Cubero S, Pastor MA, Benussi L, Ghidoni R, Binetti G, Clarimon J, Lleó A, Fortea J, de Mendonça A, Martins M, Grau-Rivera O, Gelpi E, Bettens K, Mateiu L, Dillen L, Cras P, De Deyn PP, Van Broeckhoven C, Sleegers K. Verheijen J, et al. Among authors: mateiu l. Acta Neuropathol. 2016 Aug;132(2):213-224. doi: 10.1007/s00401-016-1566-9. Epub 2016 Mar 30. Acta Neuropathol. 2016. PMID: 27026413 Free PMC 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.
27 results