Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion

Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant

(2021) Sara Roos et al.   BRAIN PATHOLOGY

Co-expression network analysis reveals the pivotal role of mitochondrial dysfunction and interferon signature in juvenile dermatomyositis

(2020) Danli Zhong et al.   PeerJ

Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing

(2020) Carola Hedberg‐Oldfors et al.   BRAIN PATHOLOGY

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

(2020) Swaraj Basu et al.   PLoS Genetics

239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018

(2019) Andrew L. Mammen et al.   NEUROMUSCULAR DISORDERS

Classification of myositis

(2018) Ingrid E. Lundberg et al.   Nature Reviews Rheumatology

Development of a New Classification System for Idiopathic Inflammatory Myopathies Based on Clinical Manifestations and Myositis-Specific Autoantibodies

(2018) Kubéraka Mariampillai et al.   JAMA Neurology

Microvascular alterations and the role of complement in dermatomyositis

(2016) Rajat Lahoria et al.   BRAIN

The genetics and pathology of mitochondrial disease

(2016) Charlotte L Alston et al.   JOURNAL OF PATHOLOGY

Inflammatory Muscle Diseases

(2015) Marinos C. Dalakas   NEW ENGLAND JOURNAL OF MEDICINE

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

Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

(2015) Jun Ding et al.   PLoS Genetics

Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations

(2014) S. Roos et al.   NEUROMUSCULAR DISORDERS

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia

(2013) Sara Roos et al.   HUMAN MOLECULAR GENETICS

Human mitochondrial DNA: roles of inherited and somatic mutations

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

Diagnosis and treatment of mitochondrial myopathies

(2011) Gerald Pfeffer et al.   ANNALS OF MEDICINE

Mitochondrial pathology in immune and inflammatory myopathies

(2010) Arun S Varadhachary et al.   CURRENT OPINION IN RHEUMATOLOGY

Mitochondrial DNA depletion syndromes – Many genes, common mechanisms

(2010) Anu Suomalainen et al.   NEUROMUSCULAR DISORDERS