Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions

Skeletal muscle mitochondrial DNA deletions are not increased in CuZn-superoxide dismutase deficient mice

(2015) Jonathan Wanagat et al.   EXPERIMENTAL GERONTOLOGY

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

(2015) James B. Stewart et al.   NATURE REVIEWS GENETICS

Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints

(2014) Dawei W Dong et al.   BMC GENOMICS

Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle

(2014) G. Campbell et al.   HUMAN MOLECULAR GENETICS

Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle

(2014) John P. Grady et al.   PLoS One

Simultaneous quantification of mitochondrial DNA copy number and deletion ratio: A multiplex real-time PCR assay

(2014) Nicole R. Phillips et al.   Scientific Reports

Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brain

(2013) Sean D. Taylor et al.   AGING CELL

Mitochondrial DNA Rearrangements in Health and Disease-A Comprehensive Study

(2013) Joana Damas et al.   HUMAN MUTATION

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

(2013) V. Nesbitt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Human embryonic stem cells commonly display large mitochondrial DNA deletions

(2013) Lindsey Van Haute et al.   NATURE BIOTECHNOLOGY

MitoBreak: the mitochondrial DNA breakpoints database

(2013) Joana Damas et al.   NUCLEIC ACIDS RESEARCH

Cerebellar Ataxia in Patients With Mitochondrial DNA Disease

(2012) Nichola Zoe Lax et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Challenges of Bringing Next Generation Sequencing Technologies to Clinical Molecular Diagnostic Laboratories

(2012) Lee-Jun C. Wong   Neurotherapeutics

Two-dimensional intact mitochondrial DNA agarose electrophoresis reveals the structural complexity of the mammalian mitochondrial genome

(2012) Jill E. Kolesar et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial DNA deletions are associated with non-B DNA conformations

(2012) Joana Damas et al.   NUCLEIC ACIDS RESEARCH

Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity

(2011) Joan Villarroya et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions

(2011) Matthias Elstner et al.   Molecular Brain

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

(2011) Jaime M. Ross   Jove-Journal of Visualized Experiments

Mitochondrial DNA deletions in mice in men: Substantia nigra is much less affected in the mouse

(2010) Xinhong Guo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

(2010) Bekim Sadikovic et al.   PLoS One

The pathophysiology of mitochondrial disease as modeled in the mouse

(2009) D. C. Wallace et al.   GENES & DEVELOPMENT

DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations

(2008) Sherine S.L. Chan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS