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. |
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| 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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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awad314 |
