(Q34410634)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22964873%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22964873%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

0 references

1

1 reference

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12 February 2020

3

Sarah E Calvo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22964873%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

7

Vamsi K Mootha

1 reference

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12 February 2020

author name string

Juan Carlos Rubio

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22964873%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Ali Naini

4

1 reference

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12 February 2020

Kurenai Tanji

5

1 reference

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12 February 2020

Salvatore Dimauro

6

1 reference

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12 February 2020

Michio Hirano

8

1 reference

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12 February 2020

publication date

1 December 2012

1 reference

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12 February 2020

published in

Archives of Neurology

1 reference

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12 February 2020

volume

69

1 reference

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12 February 2020

issue

12

1 reference

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12 February 2020

page(s)

1648-1651

1 reference

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

12 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

A map of human genome variation from population-scale sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

A mitochondrial protein compendium elucidates complex I disease biology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

Early-onset familial parkinsonism due to POLG mutations

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

Liver disease in Navajo neuropathy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3894685

10.1001/ARCHNEUROL.2012.405

27 October 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22964873%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22964873%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

22964873

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22964873%20AND%20SRC:MED&resulttype=core&format=json