(Q21284667)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1

Marisa Brum

Marisa

Brum

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Cristina Semedo

2

Cristina

Semedo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Rui Guerreiro

series ordinal

3

author given names

Rui

author last names

Guerreiro

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

José Pinto Marques

series ordinal

4

author given names

José

author last names

Pinto Marques

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

language of work or name

English

0 references

publication date

8 December 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

Case Reports in Neurological Medicine

26 February 2020

published in

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

volume

2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

page(s)

701761

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

26 February 2020

copyright license

start time

1 January 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274829

Leigh and Leigh-like syndrome in children and adults

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274829

Two new mutations in the MTATP6 gene associated with Leigh syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274829

Mitochondriopathy mimicking amyotrophic lateral sclerosis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274829

Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274829

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4274829

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2014%2F701761

Leigh syndrome: clinical and neuroimaging follow-up

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2014%2F701761

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2014%2F701761

Mitochondrial myopathy simulating spinal muscular atrophy

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/25548692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/25548692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/25548692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1155/2014/701761

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25548692%20AND%20SRC:MED&resulttype=core&format=json