Private Mitochondrial DNA Variants in Danish Patients with Hypertrophic Cardiomyopathy

Mitochondrial haplogroups are associated with hypertrophic cardiomyopathy in the Indian population

(2015) Michael Christiansen et al.   MITOCHONDRION

Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases

(2014) Gavin Hudson et al.   PLoS Genetics

The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific

(2013) Nicola Raule et al.   AGING CELL

Multilevel functional and structural defects induced by two pathogenic mitochondrial tRNA mutations

(2013) Meng Wang et al.   BIOCHEMICAL JOURNAL

Increased intrinsic mitochondrial function in humans with mitochondrial haplogroup H

(2013) Steen Larsen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mitochondrial DNA haplogroup H as a risk factor for idiopathic dilated cardiomyopathy in Spanish population

(2013) M. Fernández-Caggiano et al.   MITOCHONDRION

Mitochondrial Haplogroups Modify the Risk of Developing Hypertrophic Cardiomyopathy in a Danish Population

(2013) Christian M. Hagen et al.   PLoS One

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

(2013) Kevin A. Strauss et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MT-CYBmutations in hypertrophic cardiomyopathy

(2013) Christian M. Hagen et al.   Molecular Genetics & Genomic Medicine

Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents

(2012) Morten K. Jensen et al.   CIRCULATION

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

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

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory’s experience

(2012) Jing Wang et al.   GENETICS IN MEDICINE

Toward a mtDNA locus-specific mutation database using the LOVD platform

(2012) Joanna L. Elson et al.   HUMAN MUTATION

Mitochondria in cardiac hypertrophy and heart failure

(2012) Mariana G. Rosca et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Inherited Cardiomyopathies

(2012) Polakit Teekakirikul et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Hypertrophic cardiomyopathy

(2012) Barry J Maron et al.   LANCET

Mitochondrial Haplogroups H and J: Risk and Protective Factors for Ischemic Cardiomyopathy

(2012) Mariana Fernández-Caggiano et al.   PLoS One

After half a century mitochondrial calcium in- and efflux machineries reveal themselves

(2011) Ilaria Drago et al.   EMBO JOURNAL

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy

(2011) Elena Perli et al.   HUMAN MOLECULAR GENETICS

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

(2011) John W. Yarham et al.   HUMAN MUTATION

The Mitochondrial Proteome and Human Disease

(2010) Sarah E. Calvo et al.   Annual Review of Genomics and Human Genetics

Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system

(2010) Sha Tang et al.   BIOTECHNIQUES

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

(2010) Ole Havndrup 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

Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study

(2010) Patrick F Chinnery et al.   LANCET NEUROLOGY

Maternally inherited hearing loss is associated with the novel mitochondrial tRNASer(UCN) 7505T>C mutation in a Han Chinese family

(2010) Xiaowen Tang et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial tRNA mutations and disease

(2010) John W. Yarham et al.   Wiley Interdisciplinary Reviews-RNA

Mitochondrial DNA mutations and human disease

(2009) Helen A.L. Tuppen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Median network analysis of defectively sequenced entire mitochondrial genomes from early and contemporary disease studies

(2009) Hans-Jürgen Bandelt et al.   JOURNAL OF HUMAN GENETICS

Human mitochondrial haplogroup H: The highest VO2max consumer – Is it a paradox?

(2009) Diana Martínez-Redondo et al.   MITOCHONDRION

Hypertrophic Cardiomyopathy

(2009) JEFFREY A. TOWBIN   PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

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

20 years of human mtDNA pathologic point mutations: Carefully reading the pathogenicity criteria

(2008) Julio Montoya et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

(2008) Paal Skytt Andersen et al.   HUMAN MUTATION

Human mitochondrial variants influence on oxygen consumption

(2008) Ana Marcuello et al.   MITOCHONDRION

Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA

(2008) James Bruce Stewart et al.   PLOS BIOLOGY

Prevalence of mitochondrial DNA disease in adults

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

The search of ‘novel’ mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor

(2007) Hans-Jürgen Bandelt et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY