(Q43784130)

26 November 2017

title

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment (English)

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26 November 2017

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14

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26 November 2017

13

Ilmari Pyykkö

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26 November 2017

15

Massimo Zeviani

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26 November 2017

4

Greta Gillies

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26 November 2017

Howard T Jacobs

1

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26 November 2017

Timothy P Hutchin

2

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26 November 2017

Timo Käppi

3

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26 November 2017

Kia Minkkinen

5

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26 November 2017

John Walker

6

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26 November 2017

Karen Thompson

7

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26 November 2017

Anja T Rovio

8

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26 November 2017

Massimo Carella

9

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26 November 2017

Salvatore Melchionda

10

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26 November 2017

Leopoldo Zelante

11

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26 November 2017

Paolo Gasparini

12

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26 November 2017

Robert F Mueller

16

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26 November 2017

publication date

1 January 2005

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European Journal of Human Genetics

26 November 2017

published in

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26 November 2017

volume

13

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26 November 2017

issue

1

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26 November 2017

page(s)

26-33

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201250

26 November 2017

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mitochondrial mutation associated with nonsyndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

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/10.1038%2FSJ.EJHG.5201250

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/10.1038%2FSJ.EJHG.5201250

Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

The Prevalence of Hearing Impairment and Reported Hearing Disability among Adults in Great Britain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

In search of geographical patterns in European mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Human mtDNA haplogroups associated with high or reduced spermatozoa motility

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mitochondrial DNA polymorphisms associated with longevity in a Finnish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Tracing European founder lineages in the Near Eastern mtDNA pool

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mitochondrial DNA sequence variation in human evolution and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mitochondrial DNA mutations in Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

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/10.1038%2FSJ.EJHG.5201250

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

[Familial susceptibility to aminoglycoside ototoxicity due to the A1555G mutation in the mitochondrial DNA].

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Increased variation in mtDNA in patients with familial sensorineural hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

A tRNA suppressor mutation in human mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

7 January 2021

Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

7 January 2021

Large scale screening of the mitochondrial DNA reveals no pathogenic mutations but a haplotype associated with multiple sclerosis in Caucasians

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

7 January 2021

Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201250

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201250

1 reference

Dimensions Publication ID

26 November 2017

1039829301

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1 reference