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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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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
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Dobrigna+M%22">Dobrigna M</searchLink>; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France.<br /><searchLink fieldCode="AU" term="%22Poëa-Guyon+S%22">Poëa-Guyon S</searchLink>; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France.<br /><searchLink fieldCode="AU" term="%22Legras+M%22">Legras M</searchLink>; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France.<br /><searchLink fieldCode="AU" term="%22Le+Verger+D%22">Le Verger D</searchLink>; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France.<br /><searchLink fieldCode="AU" term="%22Duarte+K%22">Duarte K</searchLink>; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France.<br /><searchLink fieldCode="AU" term="%22Sébrié+C%22">Sébrié C</searchLink>; Université Paris-Saclay CNRS, CEA, Laboratoire d'Imagerie Biomédicale Multimodale (BioMaps), Service Hospitalier Frédéric Joliot, 91401 Orsay, France.<br /><searchLink fieldCode="AU" term="%22Poirier+R%22">Poirier R</searchLink>; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France.<br /><searchLink fieldCode="AU" term="%22Granon+S%22">Granon S</searchLink>; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France.<br /><searchLink fieldCode="AU" term="%22Marty+S%22">Marty S</searchLink>; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink>; University Hospital of Tours, Department of Genetics, UMR1253, iBrain, INSERM, Tours, France.<br /><searchLink fieldCode="AU" term="%22Dallérac+G%22">Dallérac G</searchLink>; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France.<br /><searchLink fieldCode="AU" term="%22Vaillend+C%22">Vaillend C</searchLink>; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France.<br /><searchLink fieldCode="AU" term="%22Barnier+JV%22">Barnier JV</searchLink>; Université Paris-Saclay, CNRS UMR9197, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France. Electronic address: jean-vianney.barnier@cnrs.fr.
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  Data: <searchLink fieldCode="JN" term="%229500169%22">Neurobiology of disease</searchLink> [Neurobiol Dis] 2025 Dec; Vol. 217, pp. 107188. <i>Date of Electronic Publication: </i>2025 Nov 10.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9500169 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1095-953X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209699961%22">09699961 </searchLink><i>NLM ISO Abbreviation: </i>Neurobiol Dis <i>Subsets: </i>MEDLINE
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