Associated Papers
WARS2 -Associated Neuropsychiatric Phenotype in Childhood: A Case-Based Review.
Kalita S et al.
Annals of Indian Academy of Neurology, 2025
Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.
Legati A et al.
Current Neurology and Neuroscience Reports, 2023
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Pauly MG et al.
Genes, 2023
A relatively common hypomorphic variant in WARS2 causes monogenic disease.
Ilinca A et al.
Parkinsonism & Related Disorders, 2022
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Nastase A et al.
Scientific Reports, 2021
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S et al.
International Journal of Molecular Sciences, 2021
NEMMLAS Due to Biallelic WARS2 Variants.
Finsterer J
Journal of Child Neurology, 2020
Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) Due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.
Tarnopolsky M et al.
Journal of Child Neurology, 2020
Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.
Virdee M et al.
Journal of Child Neurology, 2019
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
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Wortmann SB et al.
Human Mutation, 2017
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
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015