(Q35166737)

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Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 August 2017

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Europe PubMed Central

Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

mitochondrial DNA

0 references

Christine Van Broeckhoven

3

object named as

Christine Van Broeckhoven

0 references

author name string

Gert Van Goethem

1

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Jean-Jacques Martin

2

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

publication date

1 January 2003

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

NeuroMolecular Medicine

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

129-146

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Characterization of a catalytically slow AP lyase activity in DNA polymerase gamma and other family A DNA polymerases

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Werner's syndrome protein (WRN) migrates Holliday junctions and co-localizes with RPA upon replication arrest

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple deletions of mtDNA remove the light strand origin of replication

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mitochondrial DNA deletion in normally aging and in Alzheimer brain tissue.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An autosomal locus predisposing to deletions of mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Repair of mtDNA in vertebrates

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overexpression of the RNR1 gene rescues Saccharomyces cerevisiae mutants in the mitochondrial DNA polymerase-encoding MIP1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple hepatic mitochondrial DNA deletions suggest premature oxidative aging in alcoholic patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased error-prone non homologous DNA end-joining--a proposed mechanism of chromosomal instability in Bloom's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marked changes in mitochondrial DNA deletion levels in Alzheimer brains

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple mtDNA deletions with features of MNGIE.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA deletions in inclusion body myositis

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replication of animal mitochondrial DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A quantitative model for allosteric control of purine reduction by murine ribonucleotide reductase

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prominent mitochondrial DNA recombination intermediates in human heart muscle.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bax and adenine nucleotide translocator cooperate in the mitochondrial control of apoptosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanism of DNA chain growth. XV. RNA-linked nascent DNA pieces in Escherichia coli strains assayed with spleen exonuclease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pleomorphic mitochondrial and different filamentous inclusions in inflammatory myopathies associated with mtDNA deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The tamas gene, identified as a mutation that disrupts larval behavior in Drosophila melanogaster, codes for the mitochondrial DNA polymerase catalytic subunit (DNApol-gamma125).

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial disease in mouse results in increased oxidative stress

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Respiratory chain dysfunction associated with multiple mitochondrial DNA deletions in antiretroviral therapy-related lipodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of ten mutator alleles of the mitochondrial DNA polymerase-encoding MIP1 gene from Saccharomyces cerevisiae.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization and expression of the mouse endonuclease G gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical features of mitochondrial myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Bloom's syndrome gene product promotes branch migration of holliday junctions

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large hepatic mitochondrial DNA deletions associated with L-lactic acidosis and highly active antiretroviral therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA deletions in inherited recurrent myoglobinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of conserved residues contributing to the activities of adenovirus DNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered thymidine metabolism due to defects of thymidine phosphorylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double strand break rejoining by mammalian mitochondrial extracts.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular features of adPEO due to mutations in the Twinkle gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12835509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1385/NMM:3:3:129

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

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