(Q48135646)

9 February 2018

http://europepmc.org/abstract/MED/26060307

title

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease (English)

1 reference

9 February 2018

http://europepmc.org/abstract/MED/26060307

author

Luis A Umana

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Joaquin A Pena

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Timothy Lotze

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Yaping Yang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Magdalena Walkiewicz

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Jill V Hunter

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Fernando Scaglia

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

9 June 2015

1 reference

9 February 2018

http://europepmc.org/abstract/MED/26060307

published in

Journal of Child Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

215-219

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

Human diseases with impaired mitochondrial protein synthesis

13 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Targeted exome sequencing of suspected mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Mitochondrial disorders as windows into an ancient organelle

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Next generation sequence analysis for mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Predictive identification of exonic splicing enhancers in human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Systematic identification and analysis of exonic splicing silencers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Leber's hereditary optic neuropathy associated with a multiple-sclerosis-like picture in a man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Leber hereditary optic neuropathy mimicking neuromyelitis optica.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL): assessment of the involved white matter tracts by MRI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Mitochondrial dysfunction as a cause of axonal degeneration in multiple sclerosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815587946

21 January 2018

Identifiers

DOI

10.1177/0883073815587946

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json

release_n5bs7txzpna2rp62yvd7m6csxy

13 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/n5bs7txzpna2rp62yvd7m6csxy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26060307%20AND%20SRC:MED&resulttype=core&format=json