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Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

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Title: Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.
Authors: Aynekin B; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK; Department of Molecular Biology and Genetics, Biruni University, 34015, Istanbul, Türkiye., Lau T; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Papazoglou I; Laboratory for Innovative Drugs (Lab4IND), Computational Drug Design Center (HİTMER), Bahçeşehir University, 34734, İstanbul, Türkiye., Gulec A; Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey., Gumus UGO; Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey., Gorokhova S; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, France., Tiffany B; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, France., Simão Medeiros L; Medical Genetics Service-Hospital de Clinicas de Porto Alegre-Brazil, Porto Alegre, RS, Brazil., Schwartz IVD; Medical Genetics Service-Hospital de Clinicas de Porto Alegre-Brazil, Porto Alegre, RS, Brazil., Mutlu MB; Department of Medical Genetics, Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye., Ourani S; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus., Bergman A; Hannover Medical School, Institute of Human Genetics, Hannover, Germany., Schoch K; Division of Medical Genetics, Pediatrics, Duke University School of Medicine, Durham, NC, USA., Per H; Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey., Bingol NN; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Türkiye., Temel SG; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Türkiye; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Türkiye; Department of Histology and Embryology, Faculty of Medicine, Bursa Uludag University, Bursa, Türkiye., Durdağı S; Laboratory for Innovative Drugs (Lab4IND), Computational Drug Design Center (HİTMER), Bahçeşehir University, 34734, İstanbul, Türkiye; Molecular Therapy Lab, Department of Pharmaceutical Chemistry, School of Pharmacy, Bahcesehir University, Istanbul, Türkiye; Systems Biology Lab, Biruni University Scientific Research Center, Biruni University, Istanbul, Türkiye. Electronic address: serdar.durdagi@bau.edu.tr., Hız S; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, 35340, Turkey., Bernard G; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada; Departments of Pediatrics and Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development Program, McGill University Health Centre Research Institute, Montreal, Canada; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Canada., Tobon FV; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. Electronic address: s.efthymiou@ucl.ac.uk.
Source: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2026 Apr; Vol. 1872 (4), pp. 168184. Date of Electronic Publication: 2026 Feb 10.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE
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  Data: Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Aynekin+B%22">Aynekin B</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK; Department of Molecular Biology and Genetics, Biruni University, 34015, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Lau+T%22">Lau T</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Kaiyrzhanov+R%22">Kaiyrzhanov R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Papazoglou+I%22">Papazoglou I</searchLink>; Laboratory for Innovative Drugs (Lab4IND), Computational Drug Design Center (HİTMER), Bahçeşehir University, 34734, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Gulec+A%22">Gulec A</searchLink>; Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Gumus+UGO%22">Gumus UGO</searchLink>; Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Gorokhova+S%22">Gorokhova S</searchLink>; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Tiffany+B%22">Tiffany B</searchLink>; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Simão+Medeiros+L%22">Simão Medeiros L</searchLink>; Medical Genetics Service-Hospital de Clinicas de Porto Alegre-Brazil, Porto Alegre, RS, Brazil.<br /><searchLink fieldCode="AU" term="%22Schwartz+IVD%22">Schwartz IVD</searchLink>; Medical Genetics Service-Hospital de Clinicas de Porto Alegre-Brazil, Porto Alegre, RS, Brazil.<br /><searchLink fieldCode="AU" term="%22Mutlu+MB%22">Mutlu MB</searchLink>; Department of Medical Genetics, Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye.<br /><searchLink fieldCode="AU" term="%22Ourani+S%22">Ourani S</searchLink>; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus.<br /><searchLink fieldCode="AU" term="%22Bergman+A%22">Bergman A</searchLink>; Hannover Medical School, Institute of Human Genetics, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Schoch+K%22">Schoch K</searchLink>; Division of Medical Genetics, Pediatrics, Duke University School of Medicine, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Per+H%22">Per H</searchLink>; Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Bingol+NN%22">Bingol NN</searchLink>; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Türkiye.<br /><searchLink fieldCode="AU" term="%22Temel+SG%22">Temel SG</searchLink>; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Türkiye; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Türkiye; Department of Histology and Embryology, Faculty of Medicine, Bursa Uludag University, Bursa, Türkiye.<br /><searchLink fieldCode="AU" term="%22Durdağı+S%22">Durdağı S</searchLink>; Laboratory for Innovative Drugs (Lab4IND), Computational Drug Design Center (HİTMER), Bahçeşehir University, 34734, İstanbul, Türkiye; Molecular Therapy Lab, Department of Pharmaceutical Chemistry, School of Pharmacy, Bahcesehir University, Istanbul, Türkiye; Systems Biology Lab, Biruni University Scientific Research Center, Biruni University, Istanbul, Türkiye. Electronic address: serdar.durdagi@bau.edu.tr.<br /><searchLink fieldCode="AU" term="%22Hız+S%22">Hız S</searchLink>; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, 35340, Turkey.<br /><searchLink fieldCode="AU" term="%22Bernard+G%22">Bernard G</searchLink>; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada; Departments of Pediatrics and Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development Program, McGill University Health Centre Research Institute, Montreal, Canada; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Tobon+FV%22">Tobon FV</searchLink>; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. Electronic address: s.efthymiou@ucl.ac.uk.
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