Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

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

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

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA

(2014) B. Rebolledo-Jaramillo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Keeping mtDNA in Shape between Generations

(2014) James B. Stewart et al.   PLoS Genetics

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

(2014) Gavin Hudson et al.   PLoS Genetics

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis

(2013) Sophie Monnot et al.   HUMAN MOLECULAR GENETICS

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

A Common Pathway for a Rare Disease?

(2013) S. B. Vafai et al.   SCIENCE

Universal heteroplasmy of human mitochondrial DNA

(2012) B. A. I. Payne et al.   HUMAN MOLECULAR GENETICS

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring

(2012) D.M.E.I. Hellebrekers et al.   HUMAN REPRODUCTION UPDATE

Adult-onset spinocerebellar ataxia syndromes due toMTATP6mutations

(2012) Gerald Pfeffer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Random mitotic segregation of mitochondrial DNA in MELAS syndrome

(2010) C.-C. Huang et al.   ACTA NEUROLOGICA SCANDINAVICA

Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNALys A8344G mutation in mitochondrial DNA

(2010) J. Träff et al.   ACTA NEUROLOGICA SCANDINAVICA

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and Humans

(2010) Passorn Wonnapinij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups

(2010) Aurora Gómez-Durán et al.   HUMAN MOLECULAR GENETICS

Maternally Inherited Leigh Syndrome: T8993G Mutation in a Tunisian Family

(2009) Emna Mkaouar-Rebai et al.   PEDIATRIC NEUROLOGY

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

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease

(2008) Rosa Pello et al.   HUMAN MOLECULAR GENETICS

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

(2008) Timothy Wai et al.   NATURE GENETICS

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

(2008) Lynsey M Cree et al.   NATURE GENETICS