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Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.

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Title: Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
Authors: Stringer BW; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia., Zhang Y; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia., Taghipour-Sheshdeh A; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia., Goh S; Discipline of Paediatrics and Child Health, School of Clinical Medicine and Health, UNSW Medicine, UNSW Sydney, Sydney, NSW, 2033, Australia., Kölbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany., Farrar MA; Discipline of Paediatrics and Child Health, School of Clinical Medicine and Health, UNSW Medicine, UNSW Sydney, Sydney, NSW, 2033, Australia.; Department of Neurology, Sydney Children's Hospital, Randwick, NSW, 2031, Australia., Wirth B; Institute of Human Genetics, University Hospital of Cologne, Cologne, 50937, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, 50931, Germany.; Center for Rare Diseases, University Hospital of Cologne, Cologne, 50937, Germany., Giacomotto J; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia. j.giacomotto@griffith.edu.au.; School of Environment and Science, Griffith University, Brisbane, QLD, 4111, Australia. j.giacomotto@griffith.edu.au.; Thompson Institute, National PTSD Research Centre, University of the Sunshine Coast, Birtinya, QLD, 4575, Australia. j.giacomotto@griffith.edu.au.; Queensland Brain Institute, The University of Queensland, Brisbane, QLD, 4067, Australia. j.giacomotto@griffith.edu.au.
Source: EMBO molecular medicine [EMBO Mol Med] 2026 Jan; Vol. 18 (1), pp. 41-54. Date of Electronic Publication: 2025 Dec 15.
Publication Type: Journal Article
Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
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  Data: <searchLink fieldCode="AU" term="%22Stringer+BW%22">Stringer BW</searchLink>; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia.<br /><searchLink fieldCode="AU" term="%22Zhang+Y%22">Zhang Y</searchLink>; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia.<br /><searchLink fieldCode="AU" term="%22Taghipour-Sheshdeh+A%22">Taghipour-Sheshdeh A</searchLink>; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia.<br /><searchLink fieldCode="AU" term="%22Goh+S%22">Goh S</searchLink>; Discipline of Paediatrics and Child Health, School of Clinical Medicine and Health, UNSW Medicine, UNSW Sydney, Sydney, NSW, 2033, Australia.<br /><searchLink fieldCode="AU" term="%22Kölbel+H%22">Kölbel H</searchLink>; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Farrar+MA%22">Farrar MA</searchLink>; Discipline of Paediatrics and Child Health, School of Clinical Medicine and Health, UNSW Medicine, UNSW Sydney, Sydney, NSW, 2033, Australia.; Department of Neurology, Sydney Children's Hospital, Randwick, NSW, 2031, Australia.<br /><searchLink fieldCode="AU" term="%22Wirth+B%22">Wirth B</searchLink>; Institute of Human Genetics, University Hospital of Cologne, Cologne, 50937, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, 50931, Germany.; Center for Rare Diseases, University Hospital of Cologne, Cologne, 50937, Germany.<br /><searchLink fieldCode="AU" term="%22Giacomotto+J%22">Giacomotto J</searchLink>; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia. j.giacomotto@griffith.edu.au.; School of Environment and Science, Griffith University, Brisbane, QLD, 4111, Australia. j.giacomotto@griffith.edu.au.; Thompson Institute, National PTSD Research Centre, University of the Sunshine Coast, Birtinya, QLD, 4575, Australia. j.giacomotto@griffith.edu.au.; Queensland Brain Institute, The University of Queensland, Brisbane, QLD, 4067, Australia. j.giacomotto@griffith.edu.au.
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  Data: <searchLink fieldCode="JN" term="%22101487380%22">EMBO molecular medicine</searchLink> [EMBO Mol Med] 2026 Jan; Vol. 18 (1), pp. 41-54. <i>Date of Electronic Publication: </i>2025 Dec 15.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22EMBO+Press%22">EMBO Press </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101487380 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1757-4684 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217574676%22">17574676 </searchLink><i>NLM ISO Abbreviation: </i>EMBO Mol Med <i>Subsets: </i>MEDLINE
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              Text: 2026 Jan
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