The spectrum of hearing loss due to mitochondrial DNA defects. (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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author name string

Elliott C

2

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Green GR

3

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Rees A

4

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Coulthard A

5

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Turnbull DM

6

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Griffiths TD

7

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language of work or name

English

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publication date

1 January 2000

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published in

Brain

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volume

123 ( Pt 1)

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page(s)

82-92

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Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes

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

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

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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

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

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Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics

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

21 January 2018

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

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Sound movement detection deficit due to a brainstem lesion

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

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Mitochondrial role in hair cell survival after injury

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Stimulated acoustic emissions from within the human auditory system

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Molecular genetic aspects of human mitochondrial disorders

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Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

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

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

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

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

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

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Speech discrimination tests in investigation of sensorineural hearing loss.

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

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Mitochondrial DNA deletions associated with aging and presbyacusis.

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Cochlear origin of hearing loss in MELAS syndrome

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Adenine nucleotides of the organ of Corti under metabolic stress.

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

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Diseases of the mitochondrial DNA.

21 January 2018

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Mitochondrial genetics: a paradigm for aging and degenerative diseases?

21 January 2018

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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

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Postnatal Development of Endocochlear Potential and Stria Vascularis in the Cat

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/BRAIN/123.1.82

1 reference

14 March 2018

1 reference

14 March 2018