Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy (Q52229303)

From Wikidata

Jump to navigation Jump to search

scientific article published on November 1, 1992

edit

Language	Label	Description	Also known as
English	Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy	scientific article published on November 1, 1992

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

retrieved

27 April 2018

reference URL

http://europepmc.org/abstract/MED/1487239

title

Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487239

retrieved

1 October 2022

main subject

heteroplasmy

1 reference

based on heuristic

inferred from title

myoclonic epilepsy

1 reference

based on heuristic

inferred from title

author name string

P. Lertrit

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487239

retrieved

1 October 2022

A. S. Noer

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487239

retrieved

1 October 2022

E. Byrne

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487239

retrieved

1 October 2022

S. Marzuki

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487239

retrieved

1 October 2022

language of work or name

English

1 reference

stated in

National Center for Biotechnology Information

PubMed publication ID

1487239

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1487239

retrieved

1 October 2022

publication date

1 November 1992

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

retrieved

27 April 2018

reference URL

http://europepmc.org/abstract/MED/1487239

published in

Human Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

retrieved

27 April 2018

reference URL

http://europepmc.org/abstract/MED/1487239

volume

90

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

retrieved

27 April 2018

reference URL

http://europepmc.org/abstract/MED/1487239

issue

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

retrieved

27 April 2018

reference URL

http://europepmc.org/abstract/MED/1487239

page(s)

251-254

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

retrieved

27 April 2018

reference URL

http://europepmc.org/abstract/MED/1487239

cites work

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487239

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00220072

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

retrieved

27 April 2018

reference URL

http://europepmc.org/abstract/MED/1487239

PubMed publication ID

1487239

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1487239

retrieved

27 April 2018

reference URL

http://europepmc.org/abstract/MED/1487239

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q52229303&oldid=2211527550"