(Q34326931)

English

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

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A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency (English)

1 reference

Europe PubMed Central

1 August 2017

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Gian Nicola Gallus

object named as

Gian Nicola Gallus

4

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Federica Invernizzi

object named as

Federica Invernizzi

8

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Antonio Federico

object named as

Antonio Federico

10

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Massimo Zeviani

9

object named as

Massimo Zeviani

1 reference

Europe PubMed Central

1 August 2017

Elena Cardaioli

2

object named as

Elena Cardaioli

1 reference

Europe PubMed Central

1 August 2017

Edoardo Malfatti

3

object named as

Edoardo Malfatti

1 reference

Europe PubMed Central

1 August 2017

Alessandro Malandrini

5

object named as

Alessandro Malandrini

1 reference

Europe PubMed Central

1 August 2017

Carmen Gaudiano

6

object named as

Carmen Gaudiano

1 reference

Europe PubMed Central

1 August 2017

7

object named as

Gianna Berti

1 reference

Europe PubMed Central

1 August 2017

author name string

Paola Da Pozzo

1

1 reference

Europe PubMed Central

1 August 2017

language of work or name

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based on heuristic

inferred from title

publication date

18 February 2009

1 reference

Europe PubMed Central

1 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

1 August 2017

17

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Europe PubMed Central

1 August 2017

8

1 reference

Europe PubMed Central

1 August 2017

1092-1096

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Europe PubMed Central

1 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.12

0 references

NARP syndrome and adult-onset generalised seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986557

6 July 2018

Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986557

6 July 2018

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986557

6 July 2018

Universal rules and idiosyncratic features in tRNA identity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986557

6 July 2018

Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNA(Pro) gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986557

6 July 2018

Mitochondrial encephalomyopathies: clinical and molecular analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986557

6 July 2018

Clinical and molecular findings in children with complex I deficiency

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.12

21 January 2018

Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.12

21 January 2018

A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.12

21 January 2018

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.12

21 January 2018

Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.12

21 January 2018

Mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.12

21 January 2018

Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/19223931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mitochondrial transfer RNA proline mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19223931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19223931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/19223931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial Disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/19223931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial tRNA mutations: clinical and functional perturbations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19223931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/19223931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/19223931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2009.12

1 reference

Europe PubMed Central

1 August 2017

Dimensions Publication ID

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1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

ResearchGate publication ID

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