(Q74744127)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

H Topaloğlu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

V Seyrantepe

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

N Kandemir

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Z Akçören

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

publication date

1 May 1998

1 reference

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12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

429-431

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

12 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

MELAS point mutation with unusual clinical presentation

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

Cardiomyopathy and angiopathy in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

Melas: an original case and clinical criteria for diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900006-X

7 January 2021

10.1016/S0887-8994(98)00006-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9650685%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference