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Jean-Vianney Barnier

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Articles 26
Citations 432
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Recent Articles
1.
Gambardella A, Liu Y, Bennett M, Green T, Damiano J, Fortunato F, et al.
Epilepsia Open . 2025 Jan; PMID: 39806575
Protein-activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21-activated kinases (PAKs) family of Ras-signaling serine/threonine kinases. Pathogenic variants in the X-linked gene PAK3 have been...
2.
Nicolas-Martinez E, Robinson O, Pflueger C, Gardner A, Corbett M, Ritchie T, et al.
Am J Hum Genet . 2024 Jul; 111(8):1673-1699. PMID: 39084224
Understanding the impact of splicing and nonsense variants on RNA is crucial for the resolution of variant classification as well as their suitability for precision medicine interventions. This is primarily...
3.
Gonzalez-Reyes M, Aragon J, Sanchez-Trujillo A, Rodriguez-Martinez G, Duarte K, Eleftheriou E, et al.
Mol Neurobiol . 2024 May; 61(12):10883-10900. PMID: 38802640
Dystrophin Dp71 is the major product of the Duchenne muscular dystrophy (DMD) gene in the brain, and its loss in DMD patients and mouse models leads to cognitive impairments. Dp71...
4.
Baudouin L, Ades N, Kante K, Bachelin C, Hmidan H, Deboux C, et al.
Glia . 2024 May; 72(8):1518-1540. PMID: 38794866
In the central nervous system, the formation of myelin by oligodendrocytes (OLs) relies on the switch from the polymerization of the actin cytoskeleton to its depolymerization. The molecular mechanisms that...
5.
Viou L, Atkins M, Rousseau V, Launay P, Masson J, Pace C, et al.
Mol Psychiatry . 2024 Mar; 29(8):2296-2307. PMID: 38454080
Mutations of PAK3, a p21-activated kinase, are associated in humans with cognitive deficits suggestive of defective cortical circuits and with frequent brain structural abnormalities. Most human variants no longer exhibit...
6.
Bikfalvi A, Alves da Costa C, Avril T, Barnier J, Bauchet L, Brisson L, et al.
Trends Cancer . 2023 Mar; 9(8):692. PMID: 36997420
No abstract available.
7.
Dobrigna M, Poea-Guyon S, Rousseau V, Vincent A, Toutain A, Barnier J
Front Neurosci . 2023 Mar; 17:1123784. PMID: 36937657
Although the identification of numerous genes involved in neurodevelopmental disorders (NDDs) has reshaped our understanding of their etiology, there are still major obstacles in the way of developing therapeutic solutions...
8.
Barraza-Nunez N, Perez-Nunez R, Gaete-Ramirez B, Barrios-Garrido A, Arriagada C, Poksay K, et al.
Neurotox Res . 2023 Mar; 41(3):256-269. PMID: 36867391
Down syndrome (DS) is characterized by the trisomy of chromosome 21 and by cognitive deficits that have been related to neuronal morphological alterations in humans, as well as in animal...
9.
Bikfalvi A, Alves da Costa C, Avril T, Barnier J, Bauchet L, Brisson L, et al.
Trends Cancer . 2022 Nov; 9(1):9-27. PMID: 36400694
Glioblastoma (GBM) is the most deadly type of malignant brain tumor, despite extensive molecular analyses of GBM cells. In recent years, the tumor microenvironment (TME) has been recognized as an...
10.
Magne N, Rousseau V, Duarte K, Poea-Guyon S, Gleize V, Mutel A, et al.
Cell Oncol (Dordr) . 2021 Sep; 44(6):1257-1271. PMID: 34550532
Purpose: Gliomas are the most lethal adult primary brain cancers. Recent advances in their molecular characterization have contributed to a better understanding of their pathophysiology, but there is still a...