Cardiovascular Involvement in mtDNA Disease

A novel approach to measure mitochondrial respiration in frozen biological samples

(2020) Rebeca Acin‐Perez et al.   EMBO JOURNAL

Aerobic Exercise Training in Patients With mtDNA-Related Mitochondrial Myopathy

(2020) Tina Dysgaard Jeppesen   Frontiers in Physiology

Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse

(2020) Miguel Fernández-de la Torre et al.   Frontiers in Physiology

2019 ESC Guidelines for the management of patients with supraventricular tachycardiaThe Task Force for the management of patients with supraventricular tachycardia of the European Society of Cardiology (ESC)

(2019) Josep Brugada et al.   EUROPEAN HEART JOURNAL

2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay

(2018) Fred M. Kusumoto et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

(2017) Sumit Parikh et al.   GENETICS IN MEDICINE

Mitochondrial disease and the heart

(2016) Giuseppe Limongelli et al.   HEART

Sudden cardiac death in neuromuscular disorders

(2016) Josef Finsterer et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Mitochondrial Diseases and Cardiomyopathies

(2015) Catherine Brunel-Guitton et al.   CANADIAN JOURNAL OF CARDIOLOGY

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases

(2015) Karim Wahbi et al.   EUROPEAN HEART JOURNAL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Extracellular Volume Imaging and Quantitative T2 Mapping for the Diagnosis of Mitochondrial Cardiomyopathy

(2014) Kyoung Hwa Lee et al.   CIRCULATION

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

(2014) Sumit Parikh et al.   GENETICS IN MEDICINE

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Next-generation sequencing for mitochondrial disorders

(2013) C J Carroll et al.   BRITISH JOURNAL OF PHARMACOLOGY

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Targeted exome sequencing of suspected mitochondrial disorders

(2013) D. S. Lieber et al.   NEUROLOGY

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

(2012) M. G. D. Bates et al.   EUROPEAN HEART JOURNAL

Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases

(2012) C. Rapezzi et al.   EUROPEAN HEART JOURNAL

Mitochondrial Diabetes in Children: Seek and You Will Find It

(2012) Cristina Mazzaccara et al.   PLoS One

Recommendations for processing cardiovascular surgical pathology specimens: a consensus statement from the Standards and Definitions Committee of the Society for Cardiovascular Pathology and the Association for European Cardiovascular Pathology

(2011) James R. Stone et al.   CARDIOVASCULAR PATHOLOGY

2011 Consensus statement on endomyocardial biopsy from the Association for European Cardiovascular Pathology and the Society for Cardiovascular Pathology

(2011) Ornella Leone et al.   CARDIOVASCULAR PATHOLOGY

Cardiac Magnetic Resonance Aids in the Diagnosis of Mitochondrial Cardiomyopathy

(2011) Sara L. Partington et al.   CIRCULATION

Cardiovascular magnetic resonance imaging (CMR) reveals characteristic pattern of myocardial damage in patients with mitochondrial myopathy

(2011) Ali Yilmaz et al.   Clinical Research in Cardiology

Disease impact in chronic progressive external ophthalmoplegia: More than meets the eye

(2011) Bart W. Smits et al.   NEUROMUSCULAR DISORDERS

Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease

(2010) Giuseppe Limongelli et al.   EUROPEAN JOURNAL OF HEART FAILURE

Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny

(2010) Michael V Zaragoza et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA

(2010) K. Wahbi et al.   NEUROLOGY

CMR gives clue to “ragged red fibers” in the heart in a patient with mitochondrial myopathy

(2009) Tania Jose et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

(2009) S M Ware et al.   JOURNAL OF MEDICAL GENETICS

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuroimaging of mitochondrial disease

(2008) Russell P. Saneto et al.   MITOCHONDRION

Presentation and Diagnosis of Mitochondrial Disorders in Children

(2008) Mary Kay Koenig   PEDIATRIC NEUROLOGY

Prevalence of mitochondrial DNA disease in adults

(2007) Andrew M. Schaefer et al.   ANNALS OF NEUROLOGY