(Q74338125)

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Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype

scientific article published on 01 September 2000

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scholarly article

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10 November 2019

Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype (English)

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10 November 2019

author name string

G Silvestri

1

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10 November 2019

M Rana

2

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10 November 2019

F Odoardi

3

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10 November 2019

A Modoni

4

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10 November 2019

E Paris

5

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10 November 2019

M Papacci

6

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P Tonali

7

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10 November 2019

S Servidei

8

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10 November 2019

publication date

1 September 2000

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10 November 2019

American Journal of Medical Genetics Part A

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10 November 2019

94

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10 November 2019

3

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10 November 2019

201-206

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10 November 2019

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Nuclear-recessive mutations of factors involved in mitochondrial translation are responsible for age-related respiration deficiency of human skin fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Mitochondrial DNA and RNA processing in MELAS.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Quantitative decrease of human cytochrome c oxidase during development: evidences for a post-transcriptional regulation

1 reference

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21 January 2018

Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation)

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEING

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human rho degrees cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C201%3A%3AAID-AJMG5%3E3.0.CO%3B2-2

21 January 2018

Identifiers

10.1002/1096-8628(20000918)94:3<201::AID-AJMG5>3.0.CO;2-2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10995506%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

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10 November 2019

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