PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2)

(2015) Arnaud V. Vanlander et al.   HUMAN MUTATION

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

(2015) Mariella Simon et al.   PLoS Genetics

Whole exome sequencing reveals mutations inNARS2andPARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

(2014) Kalliopi Sofou et al.   Molecular Genetics & Genomic Medicine

Mitochondrial aminoacyl-tRNA synthetases in human disease

(2013) Svetlana Konovalova et al.   MOLECULAR GENETICS AND METABOLISM

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Hemiconvulsion–hemiplegia–epilepsy syndrome: Current understandings

(2012) Stéphane Auvin et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Phenotypic and genotypic variability in Alpers syndrome

(2012) Kalliopi Sofou et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mechanisms of mitochondrial diseases

(2011) Emil Ylikallio et al.   ANNALS OF MEDICINE

Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases

(2011) Tsutomu Suzuki et al.   Annual Review of Genetics

Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated With CACNA1A S218L Mutation

(2011) Sawako Yamazaki et al.   PEDIATRIC NEUROLOGY

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

(2008) Anthony Antonellis et al.   Annual Review of Genomics and Human Genetics