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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

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Title: Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Authors: Morgan AT; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia., Scerri TS; Murdoch Children's Research Institute, Parkville 3052, Australia.; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia., Vogel AP; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.; Centre for Neuroscience of Speech, The University of Melbourne, Parkville 3053, Australia.; Clinical Trials, Redenlab Inc., Melbourne 3000, Australia., Reid CA; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia., Quach M; Department of Neuroscience, Central Clinical School, Monash University, Melbourne 3004, Australia., Jackson VE; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia., McKenzie C; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia., Burrows EL; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia., Bennett MF; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia., Turner SJ; Murdoch Children's Research Institute, Parkville 3052, Australia., Reilly S; Murdoch Children's Research Institute, Parkville 3052, Australia.; Menzies Health Institute Queensland, Griffith University, 4215 Southport, Australia., Horton SE; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia., Block S; Discipline of Speech Pathology, School of Allied Health, La Trobe University, Bundoora 3086, Australia., Kefalianos E; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia., Frigerio-Domingues C; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA., Sainz E; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA., Rigbye KA; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia., Featherby TJ; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia., Richards KL; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia., Kueh A; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia., Herold MJ; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia., Corbett MA; Adelaide Medical School, The University of Adelaide, Adelaide 5000, Australia.; Neurogenetics Research Program, South Australian Health and Medical Research Institute, Adelaide 5000, Australia., Gecz J; Adelaide Medical School, The University of Adelaide, Adelaide 5000, Australia.; Neurogenetics Research Program, South Australian Health and Medical Research Institute, Adelaide 5000, Australia., Helbig I; Department of Neurology, Children's Hospital, Philadelphia, PA 19104, USA., Thompson-Lake DGY; Developmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, UK., Liégeois FJ; Developmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, UK., Morell RJ; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.; Genomics and Computational Biology Core, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA., Hung A; School of Science, STEM College, RMIT University, Melbourne 3001, Australia., Drayna D; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA., Scheffer IE; Murdoch Children's Research Institute, Parkville 3052, Australia.; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville 3052, Australia., Wright DK; Department of Neuroscience, Central Clinical School, Monash University, Melbourne 3004, Australia., Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; School of Mathematics and Statistics, University of Melbourne, 3010 Parkville, Australia., Hildebrand MS; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.
Source: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5086-5097.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
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  Data: <searchLink fieldCode="AU" term="%22Morgan+AT%22">Morgan AT</searchLink>; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Scerri+TS%22">Scerri TS</searchLink>; Murdoch Children's Research Institute, Parkville 3052, Australia.; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Vogel+AP%22">Vogel AP</searchLink>; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.; Centre for Neuroscience of Speech, The University of Melbourne, Parkville 3053, Australia.; Clinical Trials, Redenlab Inc., Melbourne 3000, Australia.<br /><searchLink fieldCode="AU" term="%22Reid+CA%22">Reid CA</searchLink>; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Quach+M%22">Quach M</searchLink>; Department of Neuroscience, Central Clinical School, Monash University, Melbourne 3004, Australia.<br /><searchLink fieldCode="AU" term="%22Jackson+VE%22">Jackson VE</searchLink>; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22McKenzie+C%22">McKenzie C</searchLink>; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Burrows+EL%22">Burrows EL</searchLink>; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Bennett+MF%22">Bennett MF</searchLink>; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Turner+SJ%22">Turner SJ</searchLink>; Murdoch Children's Research Institute, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Reilly+S%22">Reilly S</searchLink>; Murdoch Children's Research Institute, Parkville 3052, Australia.; Menzies Health Institute Queensland, Griffith University, 4215 Southport, Australia.<br /><searchLink fieldCode="AU" term="%22Horton+SE%22">Horton SE</searchLink>; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Block+S%22">Block S</searchLink>; Discipline of Speech Pathology, School of Allied Health, La Trobe University, Bundoora 3086, Australia.<br /><searchLink fieldCode="AU" term="%22Kefalianos+E%22">Kefalianos E</searchLink>; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Frigerio-Domingues+C%22">Frigerio-Domingues C</searchLink>; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA.<br /><searchLink fieldCode="AU" term="%22Sainz+E%22">Sainz E</searchLink>; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA.<br /><searchLink fieldCode="AU" term="%22Rigbye+KA%22">Rigbye KA</searchLink>; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Featherby+TJ%22">Featherby TJ</searchLink>; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Richards+KL%22">Richards KL</searchLink>; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Kueh+A%22">Kueh A</searchLink>; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Herold+MJ%22">Herold MJ</searchLink>; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Corbett+MA%22">Corbett MA</searchLink>; Adelaide Medical School, The University of Adelaide, Adelaide 5000, Australia.; Neurogenetics Research Program, South Australian Health and Medical Research Institute, Adelaide 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Gecz+J%22">Gecz J</searchLink>; Adelaide Medical School, The University of Adelaide, Adelaide 5000, Australia.; Neurogenetics Research Program, South Australian Health and Medical Research Institute, Adelaide 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Helbig+I%22">Helbig I</searchLink>; Department of Neurology, Children's Hospital, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Thompson-Lake+DGY%22">Thompson-Lake DGY</searchLink>; Developmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Liégeois+FJ%22">Liégeois FJ</searchLink>; Developmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Morell+RJ%22">Morell RJ</searchLink>; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.; Genomics and Computational Biology Core, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Hung+A%22">Hung A</searchLink>; School of Science, STEM College, RMIT University, Melbourne 3001, Australia.<br /><searchLink fieldCode="AU" term="%22Drayna+D%22">Drayna D</searchLink>; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Murdoch Children's Research Institute, Parkville 3052, Australia.; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Wright+DK%22">Wright DK</searchLink>; Department of Neuroscience, Central Clinical School, Monash University, Melbourne 3004, Australia.<br /><searchLink fieldCode="AU" term="%22Bahlo+M%22">Bahlo M</searchLink>; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; School of Mathematics and Statistics, University of Melbourne, 3010 Parkville, Australia.<br /><searchLink fieldCode="AU" term="%22Hildebrand+MS%22">Hildebrand MS</searchLink>; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.
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        Value: 10.1093/brain/awad314
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