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A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.
Scorrano, Giovanna; D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Buchert, Rebecca; Kotzaeridou, Urania; Iapadre, Giulia; Farello, Giovanni; Iacomino, Michele; Dono, Fedele; Di Francesco, Ludovica; Fiorile, Maria Francesca; La Bella, Saverio; Corsello, Antonio; Calì, Elisa; Di Rosa, Gabriella; Gitto, Eloisa; Verrotti, Alberto; Fortuna, Sara; Soler, Miguel A; Chiarelli, Francesco; Oehl-Jaschkowitz, Barbara; Haack, Tobias B; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo.
Afiliação
  • Scorrano G; Department of Pediatrics, University of Chieti-Pescara, Chieti, Italy; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
  • D'Onofrio G; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Ital
  • Accogli A; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Severino M; Neuroradiology Unit, IRCCS Istituto "Giannina Gaslini", Genova, Italy.
  • Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Iapadre G; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
  • Farello G; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
  • Iacomino M; Unit of Medical Genetics, IRCCS Istituto "Giannina Gaslini", Genova, Italy.
  • Dono F; Department of Neuroscience, Imaging and Clinical Sciences, University G. d'Annunzio of Chieti-Pescara, Chieti, Italy.
  • Di Francesco L; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
  • Fiorile MF; Department of Pediatrics, University of Chieti-Pescara, Chieti, Italy.
  • La Bella S; Department of Pediatrics, University of Chieti-Pescara, Chieti, Italy.
  • Corsello A; Department of Clinical Science and Community Health, University of Milan, Milan, Italy.
  • Calì E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Di Rosa G; Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Messina, Italy.
  • Gitto E; Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Messina, Italy.
  • Verrotti A; Department of Pediatrics, University of Perugia, Perugia, Italy.
  • Fortuna S; Computational Modelling of Nanoscale and Biophysical Systems Laboratory (CONCEPT), Istituto Italiano di Tecnologia (IIT), Genova, Italy.
  • Soler MA; Department of Mathematics, Computer Science and Physics, University of Udine, Udine, Italy.
  • Chiarelli F; Department of Pediatrics, University of Chieti-Pescara, Chieti, Italy.
  • Oehl-Jaschkowitz B; Bioscientia-MVZ-Labor-Saar-Praxis für Humangenetik, Homburg, Germany.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy; Unit of Medical Genetics, IRCCS Istituto "Giannina Gaslini", Genova, Italy.
  • Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Ital
  • Salpietro V; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK. Electronic address: v.salpietro@ucl.ac.uk.
Pediatr Neurol ; 149: 84-92, 2023 Dec.
Article em En | MEDLINE | ID: mdl-37820543
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Quinases Ativadas por p21 / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Revista: Pediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Quinases Ativadas por p21 / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Revista: Pediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália