Associated Papers
WARS2 -Associated Neuropsychiatric Phenotype in Childhood: A Case-Based Review.
Kalita S et al.
Annals of Indian Academy of Neurology, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.
Schneider V et al.
Cerebellum (london, England), 2024
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Pauly MG et al.
Genes, 2023
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
Skorvanek M et al.
Parkinsonism & Related Disorders, 2022
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
Maffezzini C et al.
Molecular Genetics & Genomic Medicine, 2019
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
Vantroys E et al.
Orphanet Journal of Rare Diseases, 2018
Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.
Burke EA et al.
Clinical Genetics, 2018
Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
Theisen BE et al.
American Journal of Medical Genetics. Part A, 2017
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