Identification of extremely rare mitochondrial disorders by whole exome sequencing

The genotypic and phenotypic spectrum of MTO1 deficiency

(2018) James J. O'Byrne et al.   MOLECULAR GENETICS AND METABOLISM

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids

(2018) Andreas Traschütz et al.   PARKINSONISM & RELATED DISORDERS

Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases

(2018) Kei Murayama et al.   JOURNAL OF HUMAN GENETICS

Two Korean siblings with recently described ovarioleukodystrophy related toAARS2mutations

(2017) J.-M. Lee et al.   EUROPEAN JOURNAL OF NEUROLOGY

Mitochondrial function of immune cells in septic shock: A prospective observational cohort study

(2017) Tobias M. Merz et al.   PLoS One

Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs

(2016) Eunju Kang et al.   Cell Stem Cell

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

(2016) Sonia Emperador et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

(2016) David S. Lynch et al.   JAMA Neurology

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Spectrum of combined respiratory chain defects

(2015) Johannes A. Mayr et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Whole exome sequencing of suspected mitochondrial patients in clinical practice

(2015) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease

(2015) Christopher A. Powell et al.   Frontiers in Genetics

Mitochondria: Impaired mitochondrial translation in human disease

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

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

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

(2014) S. Ahola et al.   NEUROLOGY

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

(2011) Alexandra Götz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Vanessa Vedrenne et al.   JOURNAL OF HEPATOLOGY

A modern approach to the treatment of mitochondrial disease

(2009) Sumit Parikh et al.   Current Treatment Options in Neurology

Crystal Structures of the Conserved tRNA-Modifying Enzyme GidA: Implications for Its Interaction with MnmE and Substrate

(2008) S. Meyer et al.   JOURNAL OF MOLECULAR BIOLOGY