Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

Psychosis of epilepsy: a multifaceted neuropsychiatric disorder

(2016) Andres M. Kanner et al.   CNS SPECTRUMS

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

(2016) Judith Altmann et al.   JOURNAL OF NEUROLOGY

The genetics and pathology of mitochondrial disease

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

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

(2016) Louise A. Hyslop et al.   NATURE

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

(2016) Padhraig Gormley et al.   NATURE GENETICS

Detection and interpretation of shared genetic influences on 42 human traits

(2016) Joseph K Pickrell et al.   NATURE GENETICS

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

(2016) Sanjeev Rajakulendran et al.   PLoS One

Clinical Phenotype and Segregation of Mitochondrial 3243A>G Mutation in 2 Pairs of Monozygotic Twins

(2016) Kengo Maeda et al.   JAMA Neurology

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

Genetic linkage analysis in the age of whole-genome sequencing

(2015) Jurg Ott et al.   NATURE REVIEWS GENETICS

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

Heritability and genetic association analysis of cognition in the Diabetes Heart Study

(2014) Amanda J. Cox et al.   NEUROBIOLOGY OF AGING

Disease progression in patients with single, large-scale mitochondrial DNA deletions

(2013) J. P. Grady et al.   BRAIN

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

(2013) Michelangelo Mancuso et al.   JOURNAL OF NEUROLOGY

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

(2013) V. Nesbitt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

(2013) Jaime M. Ross et al.   NATURE

Using summary data from the Danish National Registers to estimate heritabilities for schizophrenia, bipolar disorder, and major depressive disorder

(2013) Naomi Wray   Frontiers in Genetics

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

(2012) Paul de Laat et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation

(2012) Henriette J. Tschampa et al.   JOURNAL OF NEUROLOGY

Brain anomalies in maternally inherited diabetes and deafness syndrome

(2009) I. Fromont et al.   JOURNAL OF NEUROLOGY

Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study

(2009) Paul Lichtenstein et al.   LANCET

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Selection against Pathogenic mtDNA Mutations in a Stem Cell Population Leads to the Loss of the 3243A→G Mutation in Blood

(2008) Harsha Karur Rajasimha et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

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

Heritability in the genomics era — concepts and misconceptions

(2008) Peter M. Visscher et al.   NATURE REVIEWS GENETICS