(Q42512267)

1 November 2017

title

A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome (English)

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1 November 2017

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H Yoshinaga

1

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1 November 2017

T Ogino

2

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1 November 2017

S Ohtahara

3

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1 November 2017

R Sakuta

4

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1 November 2017

I Nonaka

5

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1 November 2017

S Horai

6

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1 November 2017

publication date

1 April 1993

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Journal of Child Neurology

1 November 2017

published in

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1 November 2017

volume

8

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1 November 2017

issue

2

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1 November 2017

page(s)

129-133

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Variability in the activity of respiratory chain enzymes in mitochondrial myopathies

1 November 2017

cites work

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https://api.crossref.org/works/10.1177%2F088307389300800204

Mitochondrial DNA mutation and Leigh's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389300800204

Thiamine Triphosphate Deficiency in Subacute Necrotizing Encephalomyelopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389300800204

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389300800204

Cytochrome c oxidase deficiency in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389300800204

Sequence and organization of the human mitochondrial genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389300800204

Maternally inherited mitochondrial myopathy and myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389300800204

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389300800204

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389300800204

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389300800204

Evoked potentials in children with oxidative metabolic defects leading to Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389300800204

Variability of serial CT scans in subacute necrotizing encephalomyelopathy (Leigh disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389300800204

10.1177/088307389300800204

21 January 2018

Identifiers

DOI

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1 November 2017

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