Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

Mitochondria: Impaired mitochondrial translation in human disease

(2014) Veronika Boczonadi et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

(2014) S. Ahola et al.   NEUROLOGY

When a "Disease-Causing Mutation" Is Not a Pathogenic Variant

(2013) J. Wang et al.   CLINICAL CHEMISTRY

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure

(2011) Vanessa Vedrenne et al.   JOURNAL OF HEPATOLOGY

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups

(2010) Aurora Gómez-Durán et al.   HUMAN MOLECULAR GENETICS