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List of works by Mariana C Rocha

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

scientific article

Association of mitochondrial respiratory chain deficiency in older men with muscle mass and physical performance: findings from the Hertfordshire Sarcopenia Study

scientific article published in The Lancet

Dysferlin mutations and mitochondrial dysfunction

scientific article (publication date: November 2016)

Early changes of neuromuscular transmission in the SOD1(G93A) mice model of ALS start long before motor symptoms onset

scientific article

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

scientific article published on 14 November 2019

Mitochondrial and inflammatory changes in sporadic inclusion body myositis

scientific article published on April 2015

Mitochondrial dysfunction in myofibrillar myopathy.

scientific article published on 10 August 2016

Mitochondrial respiratory chain deficiency in older men and its relationship with muscle mass and performance

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

scientific article published on 23 June 2016

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

scientific article

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

scientific article

Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study.

scientific article published in April 2018

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle

The genetics and pathology of mitochondrial disease.

scientific article published on 23 September 2016

Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA(-/-) mice

scientific article published on 24 August 2016

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

scientific article published on 15 November 2017

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