VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

Clinical, biochemical, and genetic features associated with VARS2 -related mitochondrial disease

(2018) Francesco Bruni et al.   HUMAN MUTATION

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

(2018) Giovanna De Michele et al.   Frontiers in Neurology

A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family

(2018) Keze Ma et al.   BMC Medical Genetics

Overexpression of the Cytokine BAFF and Autoimmunity Risk

(2017) Maristella Steri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset

(2017) Paolo Anagnostou et al.   Scientific Reports

Neonatal encephalocardiomyopathy caused by mutations in VARS2

(2016) Fabian Baertling et al.   METABOLIC BRAIN DISEASE

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease

(2015) Katharina Danhauser et al.   JOURNAL OF INHERITED METABOLIC DISEASE

VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies

(2014) Daria Diodato et al.   HUMAN MUTATION

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy

(2011) Elena Perli et al.   HUMAN MOLECULAR GENETICS