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Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.

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Bibliographic Details
Title: Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.
Authors: Dobrigna M; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Poëa-Guyon S; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Legras M; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Le Verger D; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Duarte K; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Sébrié C; Université Paris-Saclay CNRS, CEA, Laboratoire d'Imagerie Biomédicale Multimodale (BioMaps), Service Hospitalier Frédéric Joliot, 91401 Orsay, France., Poirier R; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Granon S; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Marty S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France., Toutain A; University Hospital of Tours, Department of Genetics, UMR1253, iBrain, INSERM, Tours, France., Dallérac G; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Vaillend C; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Barnier JV; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France. Electronic address: jean-vianney.barnier@cnrs.fr.
Source: Neurobiology of disease [Neurobiol Dis] 2025 Dec; Vol. 217, pp. 107188. Date of Electronic Publication: 2025 Nov 10.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1095-953X
DOI:10.1016/j.nbd.2025.107188