(Q34286815)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Nana Matoba

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Natsumi Uehara

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Masato Mori

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yoshimi Tokuzawa

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yosuke Mizuno

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Shunsuke Tamaru

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yohsuke Moriyama

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yutaka Nakachi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Tetsuro Sakai

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Taro Yamazaki

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Hiroko Harashima

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Kei Murayama

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Keisuke Hattori

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Jun-Ichi Hayashi

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Takanori Yamagata

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yasunori Fujita

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Masafumi Ito

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Masashi Tanaka

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Ken-Ichi Nibu

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Akira Ohtake

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yasushi Okazaki

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

publication date

28 April 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

Annals of clinical and translational neurology

22 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

361-369

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial diseases in childhood: a clinical approach to investigation and management.

22 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=4184687

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

Pathogenic mitochondrial DNA mutations are common in the general population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

What causes mitochondrial DNA deletions in human cells?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

X-linked NDUFA1 gene mutations associated with mitochondrial 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=4184687

Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

Systematic identification of human mitochondrial disease genes through integrative genomics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

6 July 2018

Mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

Mitochondrial disorders: prevalence, myths and advances.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

Development and characterization of a conditional mitochondrial complex I assembly system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 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=4184687

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

Oxidative phosphorylation disease diagnosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

Clinical presentation of mitochondrial disorders in childhood.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

Neurological presentations of mitochondrial diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184687

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

6 July 2018

1 reference

Diagnostic criteria for respiratory chain disorders in adults and children.

21 January 2018

1 reference

Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene.

21 January 2018

1 reference

Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene

21 January 2018

1 reference

Impact of mutations affecting ND mitochondria-encoded subunits on the activity and assembly of complex I in Chlamydomonas. Implication for the structural organization of the enzyme

21 January 2018

1 reference

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

21 January 2018

1 reference

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

21 January 2018

1 reference

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25356405

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ACN3.59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356405%20AND%20SRC:MED&resulttype=core&format=json