(Q37766019)

22 August 2017

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title

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders (English)

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22 August 2017

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2

Robert K Naviaux

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22 August 2017

Bruce H Cohen

1

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22 August 2017

language of work or name

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15 June 2010

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22 August 2017

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22 August 2017

volume

51

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22 August 2017

issue

4

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22 August 2017

page(s)

364-373

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Diffuse cerebral degeneration in infancy (Alpers' disease).

22 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Progressive cerebral poliodystrophy--Alpers' disease. Disorganized giant neuronal mitochondria on electron microscopy

7 January 2021

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Infantile Diffuse Cerebral Degeneration With Hepatic Cirrhosis

7 January 2021

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Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver

7 January 2021

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Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts.

7 January 2021

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Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review

7 January 2021

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

7 January 2021

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Mitochondrial DNA polymerases from yeast to man: a new family of polymerases

7 January 2021

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Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

7 January 2021

1 reference

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

7 January 2021

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

7 January 2021

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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

7 January 2021

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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

7 January 2021

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

7 January 2021

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

7 January 2021

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Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

7 January 2021

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Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

7 January 2021

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Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

7 January 2021

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POLG mutations and Alpers syndrome

7 January 2021

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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

7 January 2021

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The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

7 January 2021

1 reference

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Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

7 January 2021

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The fidelity of human DNA polymerase gamma with and without exonucleolytic proofreading and the p55 accessory subunit

7 January 2021

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Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication

7 January 2021

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The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine

7 January 2021

1 reference

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Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

7 January 2021

1 reference

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Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Inherited mitochondrial diseases of DNA replication

7 January 2021

1 reference

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Disorders associated with depletion of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

7 January 2021

1 reference

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Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

7 January 2021

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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

7 January 2021

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Respiratory chain deficiency in Alpers syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Molecular diagnosis of Alpers syndrome.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

7 January 2021

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Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

7 January 2021

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POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

7 January 2021

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POLG mutations in Alpers syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Respiratory chain defects may present only with hypoglycemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Brain MR imaging findings in two patients with Alpers' syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Progressive neuronal degeneration of childhood with liver disease ("Alpers' disease"): characteristic neurophysiological features

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Patient homozygous for a recessive POLG mutation presents with features of MERRF

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Effect of L-carnitine treatment for valproate-induced hepatotoxicity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

A modern approach to the treatment of mitochondrial disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Treatment of mitochondrial cytopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMETH.2010.05.008

10.1016/J.YMETH.2010.05.008

7 January 2021

Identifiers

DOI

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22 August 2017

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