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
Database: MEDLINE Ultimate
Description
ISSN:1879-260X
DOI:10.1016/j.bbadis.2026.168184