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PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.
Duarte, Kévin; Heide, Solveig; Poëa-Guyon, Sandrine; Rousseau, Véronique; Depienne, Christel; Rastetter, Agnès; Nava, Caroline; Attié-Bitach, Tania; Razavi, Ferechté; Martinovic, Jelena; Moutard, Marie Laure; Cherfils, Jacqueline; Mignot, Cyril; Héron, Delphine; Barnier, Jean-Vianney.
Afiliación
  • Duarte K; Department of Cognition and Behavior, Paris-Saclay Institute of Neuroscience (Neuro-PSI CNRS, UMR 9197), Paris-Sud and Paris-Saclay Universities, Orsay, France. Electronic address: Kevin.duarte@u-psud.fr.
  • Heide S; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France. Electronic address: Solveig.heide@aphp.fr.
  • Poëa-Guyon S; Department of Cognition and Behavior, Paris-Saclay Institute of Neuroscience (Neuro-PSI CNRS, UMR 9197), Paris-Sud and Paris-Saclay Universities, Orsay, France. Electronic address: Sandrine.guyon@u-psud.fr.
  • Rousseau V; Department of Cognition and Behavior, Paris-Saclay Institute of Neuroscience (Neuro-PSI CNRS, UMR 9197), Paris-Sud and Paris-Saclay Universities, Orsay, France. Electronic address: Veronique.rousseau@u-psud.fr.
  • Depienne C; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. Electronic address: Christel.depienne@uni-due.de.
  • Rastetter A; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France. Electronic address: Agnes.rastetter@icm-institue.org.
  • Nava C; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France. Electronic address: Caroline.nava@aphp.fr.
  • Attié-Bitach T; Unité d'Embryofoetopathologie, Service of Histology-Embryology-Cytogenetics, APHP Necker Enfants Malades & Imagine Institute, Inserm U1163, Paris, France. Electronic address: Tania.attie@inserm.fr.
  • Razavi F; Unité d'Embryofoetopathologie, Service of Histology-Embryology-Cytogenetics, APHP Necker Enfants Malades & Imagine Institute, Inserm U1163, Paris, France.
  • Martinovic J; Unité de foetopathologie, APHP Antoine Béclère, Paris, France.
  • Moutard ML; Department of Pediatrics Neurology, Reference Center for Intellectual Disabilities of Rare Causes APHP, Armand-Trousseau Hospital, Paris, France. Electronic address: Marielaure.moutard@trs.aphp.fr.
  • Cherfils J; Laboratoire de Biologie et Pharmacologie Appliquée, CNRS and Ecole normale supérieure Paris-Saclay, Cachan, France. Electronic address: Jacqueline.cherfils@ens-cachan.fr.
  • Mignot C; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France. Electronic address: Cyril.mignot@aphp.fr.
  • Héron D; Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, APHP, GH Pitié Salpêtrière, Paris, France. Electronic address: Delphine.heron@aphp.fr.
  • Barnier JV; Department of Cognition and Behavior, Paris-Saclay Institute of Neuroscience (Neuro-PSI CNRS, UMR 9197), Paris-Sud and Paris-Saclay Universities, Orsay, France. Electronic address: jean-vianney.barnier@u-psud.fr.
Neurobiol Dis ; 136: 104709, 2020 03.
Article en En | MEDLINE | ID: mdl-31843706
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Índice de Severidad de la Enfermedad / Movimiento Celular / Quinasas p21 Activadas / Agenesia del Cuerpo Calloso / Discapacidad Intelectual / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Child / Humans / Male Idioma: En Revista: Neurobiol Dis Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Índice de Severidad de la Enfermedad / Movimiento Celular / Quinasas p21 Activadas / Agenesia del Cuerpo Calloso / Discapacidad Intelectual / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Child / Humans / Male Idioma: En Revista: Neurobiol Dis Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article