Associated Papers
Somatic Mutations in Nuclear and Mitochondrial Genes of Mitochondrial Proteins in Primary and Recurrent Glioblastoma.
Tompa M et al.
International Journal of Molecular Sciences, 2026
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.
Ratnaike TE et al.
European Journal of Human Genetics : Ejhg, 2025
Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature.
Catania A et al.
Molecular Genetics and Metabolism, 2025
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
Post-Translational Modifications in Mammalian Folliculogenesis and Ovarian Pathologies.
Chen D et al.
Cells, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy - A case report.
Fernandes J et al.
Molecular Genetics and Metabolism Reports, 2024
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.
Legati A et al.
Current Neurology and Neuroscience Reports, 2023
AARS2-Related Leukodystrophy: a Case Report and Literature Review.
Zhang X et al.
Cerebellum (london, England), 2023
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
The emerging neurological spectrum of AARS2-associated disorders.
Parra SP et al.
Parkinsonism & Related Disorders, 2021
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Rius R et al.
Genes, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.
Xie JJ et al.
Cns Neuroscience & Therapeutics, 2020
Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.
Kuo ME et al.
Cerebellum (london, England), 2020
A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.
Song C et al.
Journal of Human Genetics, 2019
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Gu F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Expansion of the clinical spectrum associated with AARS2-related disorders.
Srivastava S et al.
American Journal of Medical Genetics. Part A, 2019
A homozygous mutation of alanyl-transfer RNA synthetase 2 in a patient of adult-onset leukodystrophy: A case report and literature review.
Wang JY et al.
Brain and Behavior, 2019
Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.
Lynch DS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
Tang Y et al.
Molecular Genetics & Genomic Medicine, 2019
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.
Wang X et al.
Frontiers in Neurology, 2019
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.
Taglia I et al.
Acta Neurologica Scandinavica, 2018
An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report.
Dong Q et al.
Journal of Human Genetics, 2018
Alanyl-tRNA Synthetase 2-Related Dementia with Selective Bilateral Frontal Cystic Leukoencephalopathy.
Carle G et al.
Journal of Clinical Neurology (seoul, Korea), 2018
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R et al.
European Journal of Human Genetics : Ejhg, 2018
Premature Ovarian Failure in French Canadian Leigh Syndrome.
Ghaddhab C et al.
The Journal of Pediatrics, 2017
Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.
Lakshmanan R et al.
Neurology. Genetics, 2017
Novel AARS2 gene mutation producing leukodystrophy: a case report.
Szpisjak L et al.
Journal of Human Genetics, 2017
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
Euro L et al.
Frontiers in Genetics, 2015
Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C et al.
Neurology, 2014
Adult-onset leukodystrophy with homozygous AARS2 mutation located in the aminoacylation domain.
Uzun GA
Neurology India, 0