(Q74338125)

English

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

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

author name string

G Silvestri

1

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

M Rana

2

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

F Odoardi

3

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

A Modoni

4

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

E Paris

5

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

M Papacci

6

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

P Tonali

7

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

S Servidei

8

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

publication date

1 September 2000

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

94

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

201-206

1 reference

Europe PubMed Central

PubMed publication ID

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

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

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

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

PubMed publication ID

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

10 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

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

10 November 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q74338125&oldid=2232585790"