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

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

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

NovelMTND1mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression

(2015) Grainne S. Gorman et al.   CLINICAL SCIENCE

Mitochondrial and inflammatory changes in sporadic inclusion body myositis

(2015) Karolina A. Rygiel et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

Mitochondrial myopathies in adults and children

(2014) Robert D.S. Pitceathly et al.   CURRENT OPINION IN NEUROLOGY

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

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

Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue

(2014) Anne Grünewald et al.   JOURNAL OF NEUROSCIENCE METHODS

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

(2013) J. P. Grady et al.   BRAIN

A Comparison between Manual and Automated Evaluations of Tissue Microarray Patterns of Protein Expression

(2013) Arthur W. Alvarenga et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

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

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

(2012) Robert D. S. Pitceathly et al.   BRAIN

Quantitative comparison of immunohistochemical staining measured by digital image analysis versus pathologist visual scoring

(2012) Anthony E Rizzardi et al.   Diagnostic Pathology

Automated image analysis of skeletal muscle fiber cross-sectional area

(2012) Jyothi Mula et al.   JOURNAL OF APPLIED PHYSIOLOGY

Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy

(2012) Julie L. Murphy et al.   NEUROMUSCULAR DISORDERS

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

(2011) Helen Swalwell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mitochondrial DNA and disease

(2011) Laura C Greaves et al.   JOURNAL OF PATHOLOGY

Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis

(2010) Graham R. Campbell et al.   ANNALS OF NEUROLOGY

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Five Entry Points of the Mitochondrially Encoded Subunits in Mammalian Complex I Assembly

(2010) E. Perales-Clemente et al.   MOLECULAR AND CELLULAR BIOLOGY

Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects

(2009) B De Paepe et al.   JOURNAL OF CLINICAL PATHOLOGY

A Robust Automated Measure of Average Antibody Staining in Immunohistochemistry Images

(2009) Kingshuk Roy Choudhury et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Detection of cytochrome c oxidase activity and mitochondrial proteins in single cells

(2009) D.J. Mahad et al.   JOURNAL OF NEUROSCIENCE METHODS

Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons

(2008) Amy K. Reeve et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assembly of the oxidative phosphorylation system in humans: What we have learned by studying its defects

(2008) Erika Fernández-Vizarra et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Assembly of mitochondrial complex I and defects in disease

(2008) Michael Lazarou et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Accuracy of dementia diagnosis--a direct comparison between radiologists and a computerized method

(2008) S. Kloppel et al.   BRAIN

Resistance training in patients with single, large-scale deletions of mitochondrial DNA

(2008) J. L. Murphy et al.   BRAIN