Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease

(2016) Angela Pyle et al.   NEUROBIOLOGY OF AGING

Somatic mtDNA variation is an important component of Parkinson's disease

(2016) Jonathan Coxhead et al.   NEUROBIOLOGY OF AGING

Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease

(2015) Angela Pyle et al.   ANNALS OF NEUROLOGY

Mitochondrial DNA mutations in neurodegeneration

(2015) Michael J. Keogh et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Somatic mutation in single human neurons tracks developmental and transcriptional history

(2015) M. A. Lodato et al.   SCIENCE

MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

(2014) Claudia Calabrese et al.   BIOINFORMATICS

Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

(2014) Maria Angela Diroma et al.   BMC GENOMICS

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

(2014) Gavin Hudson et al.   PLoS Genetics

Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

(2013) Jaime M. Ross et al.   NATURE

Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease

(2013) G. Hudson et al.   NEUROLOGY

Somatic mitochondrial DNA mutations in early parkinson and incidental lewy body disease

(2012) Michael T. Lin et al.   ANNALS OF NEUROLOGY

The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser

(2011) Domenico Simone et al.   BMC GENOMICS

HmtDB, a genomic resource for mitochondrion-based human variability studies

(2011) Francesco Rubino et al.   NUCLEIC ACIDS RESEARCH

Somatic Mitochondrial DNA Mutations in Mammalian Aging

(2010) Nils-Göran Larsson   Annual Review of Biochemistry

DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing

(2010) John C Castle et al.   BMC GENOMICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

Mitochondrial haplogroup H and Alzheimer's disease—Is there a connection?

(2008) Aleksandra Maruszak et al.   NEUROBIOLOGY OF AGING