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

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease

(2012) Elizna M van der Walt et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A mitochondrial etiology of Alzheimer and Parkinson disease

(2011) Pinar Coskun et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

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

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

(2011) Samira Achouitar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

(2011) Julien Cassereau et al.   Orphanet Journal of Rare Diseases

Mitochondrial DNA Backgrounds Might Modulate Diabetes Complications Rather than T2DM as a Whole

(2011) Alessandro Achilli et al.   PLoS One

Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes

(2010) Mingkun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

(2010) Yiping He et al.   NATURE

Mitochondrial DNA mutations and human disease

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

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

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

Exaggerated status of “novel” and “pathogenic” mtDNA sequence variants due to inadequate database searches

(2008) Hans-Jürgen Bandelt et al.   HUMAN MUTATION

A database to support the interpretation of human mismatch repair gene variants

(2008) Jianghua Ou et al.   HUMAN MUTATION

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

(2008) Lynsey M Cree et al.   NATURE GENETICS

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