Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy

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

(2019) Chiara Begliuomini et al.   BMC Medical Genetics

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

(2019) René G. Feichtinger et al.   GENETICS IN MEDICINE

Low VDAC1 Expression Is Associated with an Aggressive Phenotype and Reduced Overall Patient Survival in Cholangiocellular Carcinoma

(2019) René Günther Feichtinger et al.   Cells

A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension

(2019) Hui-Lin Chin et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

A novel VARS2 gene variant in a patient with epileptic encephalopathy

(2019) Lucija Ruzman et al.   UPSALA JOURNAL OF MEDICAL SCIENCES

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

(2018) Francesco Bruni et al.   HUMAN MUTATION

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

Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer

(2018) René G. Feichtinger et al.   Oxidative Medicine and Cellular Longevity

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

(2016) Ewa Pronicka et al.   Journal of Translational Medicine

Neonatal encephalocardiomyopathy caused by mutations in VARS2

(2016) Fabian Baertling et al.   METABOLIC BRAIN DISEASE

Variable skeletal muscle involvement in VARS2 mitochondrial encephalomyopathy

(2016) B. San Millan et al.   NEUROMUSCULAR DISORDERS

Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors

(2015) René G. Feichtinger et al.   NEURO-ONCOLOGY

Alterations of oxidative phosphorylation complexes in astrocytomas

(2014) René Günther Feichtinger et al.   GLIA

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

Human diseases with impaired mitochondrial protein synthesis

(2011) Agnès Rötig   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

(2010) Rene' G Feichtinger et al.   BMC CANCER