Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Dysfunctional mitochondrial maintenance: what breaks the circle of life?

(2012) P. Yu-Wai-Man et al.   BRAIN

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

(2012) Emma L. Blakely et al.   NEUROMUSCULAR DISORDERS

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

(2011) C. Rouzier et al.   BRAIN

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

(2011) Caterina Garone et al.   BRAIN

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

(2011) H. Tyynismaa et al.   HUMAN MOLECULAR GENETICS

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

(2011) C. Fratter et al.   NEUROLOGY

POLG1 manifestations in childhood

(2011) P. Isohanni et al.   NEUROLOGY

The human mitochondrial replication fork in health and disease

(2010) Sjoerd Wanrooij et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

(2009) Henna Tyynismaa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic causes of mitochondrial DNA depletion in humans

(2009) Agnès Rötig et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

(2009) J. Poulton et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Clinical and molecular features of mitochondrial DNA depletion syndromes

(2009) A. Spinazzola et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

(2009) J D Stewart et al.   JOURNAL OF MEDICAL GENETICS

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Amyotrophic Lateral Sclerosis With Ragged-Red Fibers

(2008) Michio Hirano et al.   ARCHIVES OF NEUROLOGY

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Novel mutations in exon 2 ofMATN3affect residues within the α-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3

(2008) Maryline Fresquet et al.   HUMAN MUTATION

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

(2008) R. Virgilio et al.   JOURNAL OF NEUROLOGY

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

(2008) David P. Dimmock et al.   LIVER TRANSPLANTATION

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

What causes mitochondrial DNA deletions in human cells?

(2008) Kim J Krishnan et al.   NATURE GENETICS

Inherited Mitochondrial Diseases of DNA Replication

(2007) William C. Copeland   Annual Review of Medicine

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

(2007) P. Amati-Bonneau et al.   BRAIN