Revisiting mitochondrial diagnostic criteria in the new era of genomics

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

(2016) Andrea Legati et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

LYRM7mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

(2016) Cristina Dallabona et al.   BRAIN

Mitochondrial disorders in children: toward development of small-molecule treatment strategies

(2016) W. J. Koopman et al.   EMBO Molecular Medicine

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

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

(2016) Masakazu Kohda et al.   PLoS Genetics

Mitochondrial disease in adults: what's old and what's new?

(2015) P. F. Chinnery   EMBO Molecular Medicine

Next generation mitochondrial disease: change in diagnostics with eyes on therapy

(2015) Eva Morava et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Emerging aspects of treatment in mitochondrial disorders

(2015) Shamima Rahman   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

Mutations causing mitochondrial disease: What is new and what challenges remain?

(2015) R. N. Lightowlers et al.   SCIENCE

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

(2014) Sumit Parikh et al.   GENETICS IN MEDICINE

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

(2014) Helen R. Griffin et al.   GENETICS IN MEDICINE

Mitochondria: Mitochondrial OXPHOS (dys) function ex vivo – The use of primary fibroblasts

(2014) Ann Saada   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

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

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

(2013) S. H. Kevelam et al.   NEUROLOGY

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

(2012) Tomas Honzik et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

(2012) S. Koene et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

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

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

Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging

(2011) Marianne E. Steenweg et al.   BRAIN