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FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Piard, Juliette; Hu, Jia-Hua; Campeau, Philippe M; Rzonca, Sylwia; Van Esch, Hilde; Vincent, Elizabeth; Han, Mei; Rossignol, Elsa; Castaneda, Jennifer; Chelly, Jamel; Skinner, Cindy; Kalscheuer, Vera M; Wang, Ruihua; Lemyre, Emmanuelle; Kosinska, Joanna; Stawinski, Piotr; Bal, Jerzy; Hoffman, Dax A; Schwartz, Charles E; Van Maldergem, Lionel; Wang, Tao; Worley, Paul F.
Afiliação
  • Piard J; Centre de Génétique Humaine and Integrative and Cognitive Neuroscience Research Unit EA481, Université de Franche-Comté, Besançon, France.
  • Hu JH; Department of Neuroscience, Department of Pediatrics, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Campeau PM; Program in Developmental Neuroscience, Molecular Neurophysiology and Biophysics Section, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Rzonca S; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.
  • Van Esch H; Institute of Mother and Child, Warsaw, Poland.
  • Vincent E; Department of Human Genetics, University Hospitals Leuven, Belgium.
  • Han M; Department of Neuroscience, Department of Pediatrics, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Rossignol E; Department of Neuroscience, Department of Pediatrics, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Castaneda J; Department of Neurosciences, University of Montreal, Montreal, QC, Canada.
  • Chelly J; Institute of Mother and Child, Warsaw, Poland.
  • Skinner C; CNRS UMR7104, Institut de Génétique, Biologie Moléculaire et Cellulaire, Illkirch, France.
  • Kalscheuer VM; Greenwood Genetic Center, Greenwood, SC, USA.
  • Wang R; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Lemyre E; Department of Neuroscience, Department of Pediatrics, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Kosinska J; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.
  • Stawinski P; Institute of Mother and Child, Warsaw, Poland.
  • Bal J; Institute of Mother and Child, Warsaw, Poland.
  • Hoffman DA; Institute of Mother and Child, Warsaw, Poland.
  • Schwartz CE; Program in Developmental Neuroscience, Molecular Neurophysiology and Biophysics Section, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Van Maldergem L; Greenwood Genetic Center, Greenwood, SC, USA.
  • Wang T; Centre de Génétique Humaine and Integrative and Cognitive Neuroscience Research Unit EA481, Université de Franche-Comté, Besançon, France.
  • Worley PF; Centre of Clinical Investigation 1431, National Institute for Health and Medical Research (INSERM), Université de Franche-Comté, Besançon, France.
Hum Mol Genet ; 27(4): 589-600, 2018 02 15.
Article em En | MEDLINE | ID: mdl-29267967
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espinhas Dendríticas / Peptídeos e Proteínas de Sinalização Intracelular / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espinhas Dendríticas / Peptídeos e Proteínas de Sinalização Intracelular / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França