(Q50498619)

14 March 2018

title

The spectrum of hearing loss due to mitochondrial DNA defects (English)

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14 March 2018

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1

Chinnery PF

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14 March 2018

author name string

Elliott C

2

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14 March 2018

Green GR

3

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14 March 2018

Rees A

4

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14 March 2018

Coulthard A

5

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14 March 2018

Turnbull DM

6

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14 March 2018

Griffiths TD

7

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14 March 2018

language of work or name

English

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publication date

1 January 2000

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14 March 2018

published in

Brain

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14 March 2018

volume

123 ( Pt 1)

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14 March 2018

page(s)

82-92

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14 March 2018

Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes

cites work

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https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Clinical features, investigation, and management of patients with defects of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

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/10.1093%2FBRAIN%2F123.1.82

Sound movement detection deficit due to a brainstem lesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

A distinct low-level mechanism for interaural timing analysis in human hearing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Mitochondrial role in hair cell survival after injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Stimulated acoustic emissions from within the human auditory system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Molecular genetic aspects of human mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Speech discrimination tests in investigation of sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Mitochondrial DNA mutations and pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Mitochondrial DNA deletions associated with aging and presbyacusis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Cochlear origin of hearing loss in MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Adenine nucleotides of the organ of Corti under metabolic stress.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Diseases of the mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Mitochondrial genetics: a paradigm for aging and degenerative diseases?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

Postnatal Development of Endocochlear Potential and Stria Vascularis in the Cat

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.1.82

21 January 2018

Identifiers

DOI

10.1093/BRAIN/123.1.82

1 reference

14 March 2018

1 reference

14 March 2018