The m.7510T&gt;C mutation: Hearing impairment and a complex neurologic phenotype. (Q47161567)

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8 April 2020

title

The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype (English)

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8 April 2020

1 reference

1 reference

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8 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29299381%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Maria Gardberg

1 reference

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8 April 2020

Kari Majamaa

series ordinal

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8 April 2020

publication date

19 November 2017

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8 April 2020

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8 April 2020

volume

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8 April 2020

issue

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8 April 2020

page(s)

e00859

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Mitochondrial pathology in progressive cerebellar ataxia

8 April 2020

cites work

1 reference

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Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

23 May 2018

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Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases

23 May 2018

1 reference

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Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.

23 May 2018

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Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study

23 May 2018

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Ancient voyaging and Polynesian origins

23 May 2018

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Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study

23 May 2018

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Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

23 May 2018

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Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure

23 May 2018

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

23 May 2018

1 reference

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Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

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

23 May 2018

1 reference

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A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome

23 May 2018

1 reference

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Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.

23 May 2018

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

23 May 2018

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Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

23 May 2018

1 reference

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The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

Immunohistochemical and ultrastructural abnormalities in muscle from a patient with sensorineural hearing loss related to a 1555 A-to-G mitochondrial mutation.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5745241

mtDNA tree Build 17 (18 Feb 2016)

15 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FBRB3.859

Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29299381

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/BRB3.859

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29299381%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

1 reference

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8 April 2020

PubMed publication ID

29299381

1 reference

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