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SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.

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Title: SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.
Authors: Wirth B; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany. Electronic address: brunhilde.wirth@uk-koeln.de., Das J; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD 4111, Australia., Kölbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, University Hospital Essen, Essen, Germany., Goh S; Women's Health, Paediatrics and Child Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW 2033, Australia., Farrar MA; Women's Health, Paediatrics and Child Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW 2033, Australia; Department of Neurology, Sydney Children's Hospital, Randwick, NSW 2031, Australia., Piano V; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Zetzsche S; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Fuhrmann N; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany., Becker J; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany., Karakaya M; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany., Zhang Y; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD 4111, Australia., Cao 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., Stringer BW; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD 4111, Australia., Giacomotto J; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD 4111, Australia; School of Environment and Science, Griffith University, Brisbane, QLD 4111, Australia; Thompson Institute, National PTSD Research Centre, University of the Sunshine Coast, Birtinya, QLD 4575, Australia; Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4067, Australia.
Source: American journal of human genetics [Am J Hum Genet] 2026 Mar 05; Vol. 113 (3), pp. 627-635. Date of Electronic Publication: 2026 Feb 12.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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  Data: SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.
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  Data: <searchLink fieldCode="AU" term="%22Wirth+B%22">Wirth B</searchLink>; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany. Electronic address: brunhilde.wirth@uk-koeln.de.<br /><searchLink fieldCode="AU" term="%22Das+J%22">Das J</searchLink>; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD 4111, Australia.<br /><searchLink fieldCode="AU" term="%22Kölbel+H%22">Kölbel H</searchLink>; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Goh+S%22">Goh S</searchLink>; Women's Health, Paediatrics and Child Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW 2033, Australia.<br /><searchLink fieldCode="AU" term="%22Farrar+MA%22">Farrar MA</searchLink>; Women's Health, Paediatrics and Child Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW 2033, Australia; Department of Neurology, Sydney Children's Hospital, Randwick, NSW 2031, Australia.<br /><searchLink fieldCode="AU" term="%22Piano+V%22">Piano V</searchLink>; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Zetzsche+S%22">Zetzsche S</searchLink>; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Fuhrmann+N%22">Fuhrmann N</searchLink>; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Becker+J%22">Becker J</searchLink>; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Karakaya+M%22">Karakaya M</searchLink>; Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany.<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="%22Cao+Y%22">Cao 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="%22Stringer+BW%22">Stringer BW</searchLink>; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD 4111, Australia.<br /><searchLink fieldCode="AU" term="%22Giacomotto+J%22">Giacomotto J</searchLink>; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD 4111, Australia; School of Environment and Science, Griffith University, Brisbane, QLD 4111, Australia; Thompson Institute, National PTSD Research Centre, University of the Sunshine Coast, Birtinya, QLD 4575, Australia; Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4067, Australia.
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