(Q42382904)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

main subject

mitochondrial myopathy

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Joanna Poulton

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Yi Shiau Ng

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

Douglass Matthew Turnbull

21 March 2020

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Gráinne S. Gorman

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Robert William Taylor

16

object named as

Robert W Taylor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

2

Emma L Blakely

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

6

Gavin Falkous

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1

Steven A Hardy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

5

Syeda Ahmed

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

13

Rita Horvath

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

Andrew I Purvis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Michael R Rose

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Olivia O'Mahony

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Niamh Bermingham

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Charlotte F Dougan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

publication date

23 June 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

e82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.

21 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4972142

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4972142

Mitochondrial tRNA mutations and disease

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4972142

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4972142

An enhanced MITOMAP with a global mtDNA mutational phylogeny

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4972142

Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4972142

A novel mitochondrial transfer RNA proline mutation

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27536729

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/NXG.0000000000000082

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27536729%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference