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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer, Elizabeth E; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogné, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S; Chedrawi, Aziza; Hashem, Mais O; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stéphanie; Raynaud, Martine; Motter, Constance S; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Bénédicte.
Afiliação
  • Palmer EE; Centre for Clinical Genetics, Sydney Children's Hospital Network, Randwick, NSW, Australia. elizabeth.palmer@unsw.edu.au.
  • Pusch M; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, NSW, Australia. elizabeth.palmer@unsw.edu.au.
  • Picollo A; Istituto di Biofisica, CNR, Genova, Italy. michael.pusch@ibf.cnr.it.
  • Forwood C; Istituto di Biofisica, CNR, Genova, Italy.
  • Nguyen MH; Centre for Clinical Genetics, Sydney Children's Hospital Network, Randwick, NSW, Australia.
  • Suckow V; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, NSW, Australia.
  • Gibbons J; Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia.
  • Hoff A; Max Planck Institute for Molecular Genetics, Group Development and Disease, Berlin, Germany.
  • Sigfrid L; Max Planck Institute for Molecular Genetics, Group Development and Disease, Berlin, Germany.
  • Megarbane A; Istituto di Biofisica, CNR, Genova, Italy.
  • Nizon M; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, 581 83, Sweden.
  • Cogné B; Istituto di Biofisica, CNR, Genova, Italy.
  • Beneteau C; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, 581 83, Sweden.
  • Alkuraya FS; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
  • Chedrawi A; Institut Jerome Lejeune, Paris, France.
  • Hashem MO; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France.
  • Stamberger H; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.
  • Weckhuysen S; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France.
  • Vanlander A; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.
  • Ceulemans B; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France.
  • Rajagopalan S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Nunn K; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Arpin S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Raynaud M; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Motter CS; Neurology Department, Antwerp University Hospital, Antwerp, Belgium.
  • Ward-Melver C; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Janssens K; Neurology Department, Antwerp University Hospital, Antwerp, Belgium.
  • Meuwissen M; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.
  • Beysen D; Department of Child Neurology & Metabolism, Ghent University Hospital, Ghent, Belgium.
  • Dikow N; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
  • Grimmel M; Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia.
  • Haack TB; Children's Hospital at Westmead, Sydney Children's Hospitals Network, Sydney, Australia.
  • Clement E; Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.
  • McTague A; Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.
  • Hunt D; Genetic Center, Akron Children's Hospital, Akron, OH, USA.
  • Townshend S; Genetic Center, Akron Children's Hospital, Akron, OH, USA.
  • Ward M; Center of Medical Genetics, University Hospital Antwerp/University of Antwerp, Edegem, Belgium.
  • Richards LJ; Center of Medical Genetics, University Hospital Antwerp/University of Antwerp, Edegem, Belgium.
  • Simons C; Department of Pediatric Neurology, University Hospital Antwerp/University of Antwerp, Edegem, Belgium.
  • Costain G; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Dupuis L; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Mendoza-Londono R; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Dudding-Byth T; Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.
  • Boyle J; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Saunders C; Department of Neurology, Great Ormond Street Hospital, London, UK.
  • Fleming E; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • El Chehadeh S; Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, Australia.
  • Spitz MA; Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, Australia.
  • Piton A; Department of Neuroscience, Washington University in St Louis School of Medicine, St Louis, MI, USA.
  • Gerard B; The University of Queensland, Queensland Brain Institute, St Lucia, QLD, Australia.
Mol Psychiatry ; 28(2): 668-697, 2023 02.
Article em En | MEDLINE | ID: mdl-36385166
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento Limite: Female / Humans / Male Idioma: En Revista: Mol Psychiatry Assunto da revista: BIOLOGIA MOLECULAR / PSIQUIATRIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Austrália
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento Limite: Female / Humans / Male Idioma: En Revista: Mol Psychiatry Assunto da revista: BIOLOGIA MOLECULAR / PSIQUIATRIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Austrália