(Q47803617)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9673981%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

title

A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9673981%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

0 references

1 reference

mitochondrial myopathy

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9673981%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

author name string

M Rana

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9673981%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

A DiMuzio

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9673981%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

A Uncini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9673981%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

P Tonali

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9673981%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

S Servidei

6

1 reference

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13 November 2019

publication date

1 June 1998

1 reference

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13 November 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9673981%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

volume

8

1 reference

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13 November 2019

issue

5

1 reference

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13 November 2019

page(s)

291-295

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9673981%20AND%20SRC:MED&resulttype=core&format=json

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia

13 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900037-6

7 January 2021

Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900037-6

7 January 2021

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900037-6

7 January 2021

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900037-6

7 January 2021

Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900037-6

7 January 2021

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900037-6

7 January 2021

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900037-6

7 January 2021

Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900037-6

7 January 2021

Late-onset mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900037-6

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%2FS0960-8966%2898%2900037-6

7 January 2021

A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900037-6

7 January 2021

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900037-6

7 January 2021

10.1016/S0960-8966(98)00037-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9673981%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference