Novel (ovario) leukodystrophy related to AARS2 mutations
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Evolutionary Limitation and Opportunities for Developing tRNA Synthetase Inhibitors with 5-Binding-Mode ClassificationLARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailurePosterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophyClinical and genetic characterization of leukoencephalopathies in adults.Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectA novel AARS mutation in a family with dominant myeloneuropathy.Altered PLP1 splicing causes hypomyelination of early myelinating structures.First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.Whole exome sequencing in patients with white matter abnormalities.Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Human aminoacyl-tRNA synthetases in diseases of the nervous system.Mitochondrial disease and endocrine dysfunction.Genetic Leukoencephalopathies in Adults.An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.Genetics of mitochondrial dysfunction and infertility.VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Novel AARS2 gene mutation producing leukodystrophy: a case report.Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.Recessive ITPA mutations cause an early infantile encephalopathy.Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylationRetinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations.Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.The role of tRNA synthetases in neurological and neuromuscular disorders.Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria.Biallelic Mutations in Mitochondrial Tryptophanyl-tRNA Synthetase Cause Levodopa-Rresponsive Infantile-Onset Parkinsonism.Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.The diagnosis of dementias: a practical tool not to miss rare causes.Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
P2860
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P2860
Novel (ovario) leukodystrophy related to AARS2 mutations
description
2014 nî lūn-bûn
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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Novel (ovario) leukodystrophy related to AARS2 mutations
@ast
Novel (ovario) leukodystrophy related to AARS2 mutations
@en
type
label
Novel (ovario) leukodystrophy related to AARS2 mutations
@ast
Novel (ovario) leukodystrophy related to AARS2 mutations
@en
prefLabel
Novel (ovario) leukodystrophy related to AARS2 mutations
@ast
Novel (ovario) leukodystrophy related to AARS2 mutations
@en
P2093
P2860
P50
P1433
P1476
Novel (ovario) leukodystrophy related to AARS2 mutations
@en
P2093
Alison Colley
Caterina Mariotti
Eline M Hamilton
Ettore Salsano
Gajja S Salomons
Helena Rocha
Ileana Ferrero
Kim Chapman
Laura Melchionda
Lee-Jun Wong
P2860
P304
P356
10.1212/WNL.0000000000000497
P407
P50
P577
2014-05-07T00:00:00Z