(Q37355287)

19 August 2017

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. (English)

1 reference

19 August 2017

1 reference

5

Olivier Lichtarge

1 reference

19 August 2017

Aziz Shaibani

1

1 reference

19 August 2017

Oleg A Shchelochkov

2

1 reference

19 August 2017

Shulin Zhang

3

1 reference

19 August 2017

Panagiotis Katsonis

4

1 reference

19 August 2017

Lee-Jun Wong

6

1 reference

19 August 2017

Marwan Shinawi

7

1 reference

19 August 2017

1 August 2009

1 reference

19 August 2017

Archives of Neurology

1 reference

19 August 2017

66

1 reference

19 August 2017

8

1 reference

19 August 2017

1028-1032

1 reference

Clinical and molecular features of mitochondrial DNA depletion syndromes.

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

De-orphaning the structural proteome through reciprocal comparison of evolutionarily important structural features

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

Inherited mitochondrial diseases of DNA replication

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

MNGIE: from nuclear DNA to mitochondrial DNA.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747647

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19667227

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/ARCHNEUROL.2009.139

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

19667227

1 reference