Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy

(2016) Saskia Maria Gehrig et al.   Orphanet Journal of Rare Diseases

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Redefining phenotypes associated with mitochondrial DNA single deletion

(2015) Michelangelo Mancuso et al.   JOURNAL OF NEUROLOGY

Triplex real-time PCR–an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells

(2015) Karolina A. Rygiel et al.   Scientific Reports

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis

(2015) Mariana C. Rocha et al.   Scientific Reports

Disease progression in patients with single, large-scale mitochondrial DNA deletions

(2013) J. P. Grady et al.   BRAIN

Single deletions in mitochondrial DNA – Molecular mechanisms and disease phenotypes in clinical practice

(2012) R.D.S. Pitceathly et al.   NEUROMUSCULAR DISORDERS

Denervation Causes Fiber Atrophy and Myosin Heavy Chain Co-Expression in Senescent Skeletal Muscle

(2012) Sharon L. Rowan et al.   PLoS One

Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity

(2010) J. Arpa et al.   ACTA NEUROLOGICA SCANDINAVICA

CPEO and KSS differ in the percentage and location of the mtDNA deletion

(2009) Ester López-Gallardo et al.   MITOCHONDRION

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

(2008) Shintaro Yamashita et al.   JOURNAL OF HUMAN GENETICS