Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. (Q36411022)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23107649%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

title

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics (English)

1 reference

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16 February 2020

main subject

mitochondrial disease

1 reference

4

1 reference

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16 February 2020

Andrew M Schaefer

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1 reference

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16 February 2020

Robert McFarland

20

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16 February 2020

Rita Horvath

21

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Douglass Matthew Turnbull

16 February 2020

23

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16 February 2020

Joanna Poulton

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16 February 2020

Gráinne S. Gorman

26

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16 February 2020

Robert William Taylor

25

object named as

Robert W Taylor

1 reference

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22

Patrick F Chinnery

1 reference

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16 February 2020

7

Emma L Blakely

1 reference

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16 February 2020

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Michael G Hanna

1 reference

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16 February 2020

3

Carl Fratter

1 reference

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16 February 2020

Robert D S Pitceathly

1

object named as

Robert D S Pitceathly

1 reference

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16 February 2020

author name string

Conrad Smith

2

1 reference

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16 February 2020

Langping He

5

1 reference

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16 February 2020

Kate Craig

6

1 reference

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16 February 2020

Julie C Evans

8

1 reference

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16 February 2020

John Taylor

9

1 reference

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16 February 2020

Zarfishan Shabbir

10

1 reference

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16 February 2020

Marcus Deschauer

11

1 reference

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16 February 2020

Ute Pohl

12

1 reference

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16 February 2020

Mark E Roberts

13

1 reference

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Matthew C Jackson

14

1 reference

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16 February 2020

Christopher A Halfpenny

15

1 reference

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16 February 2020

Peter D Turnpenny

16

1 reference

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16 February 2020

Peter W Lunt

17

1 reference

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16 February 2020

language of work or name

English

0 references

publication date

29 October 2012

1 reference

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16 February 2020

1 reference

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16 February 2020

volume

135

1 reference

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16 February 2020

issue

Pt 11

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16 February 2020

page(s)

3392-3403

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Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

16 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=3501970

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

30 September 2017

1 reference

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p53R2 inhibits the proliferation of human cancer cells in association with cell-cycle arrest.

30 September 2017

1 reference

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2.6 Å X-ray Crystal Structure of Human p53R2, a p53-Inducible Ribonucleotide Reductase,

30 September 2017

1 reference

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Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

30 September 2017

1 reference

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A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

30 September 2017

1 reference

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A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

30 September 2017

1 reference

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Clinical and molecular features of mitochondrial DNA depletion syndromes.

30 September 2017

1 reference

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Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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The diagnosis of mitochondrial muscle disease.

30 September 2017

1 reference

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Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

30 September 2017

1 reference

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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

30 September 2017

1 reference

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

30 September 2017

1 reference

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Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

30 September 2017

1 reference

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Diagnosis of mitochondrial DNA depletion syndromes

21 September 2018

1 reference

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Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

21 September 2018

1 reference

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Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

21 September 2018

1 reference

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Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

21 September 2018

1 reference

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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

21 September 2018

1 reference

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A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23107649

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23107649

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWS231

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23107649%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23107649%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

PubMed publication ID

23107649

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23107649%20AND%20SRC:MED&resulttype=core&format=json