(Q48620777)

13 February 2018

title

A specific point mutation in the mitochondrial genome of Caucasians with MELAS (English)

1 reference

28 October 2022

1 reference

28 October 2022

author name string

C. Enter

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1684568

28 October 2022

J. Müller-Höcker

2

1 reference

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28 October 2022

S. Zierz

3

1 reference

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28 October 2022

G. Kurlemann

4

1 reference

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28 October 2022

D. Pongratz

5

1 reference

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28 October 2022

C. Förster

6

1 reference

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28 October 2022

B. Obermaier-Kusser

7

1 reference

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28 October 2022

K. D. Gerbitz

8

1 reference

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28 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1684568

28 October 2022

publication date

1 December 1991

1 reference

13 February 2018

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00206080.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00206080/fulltext.html

28 October 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00206080

28 October 2022

1 reference

28 October 2022

1 reference

13 February 2018

volume

88

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13 February 2018

page(s)

233-236

1 reference

13 February 2018

issue

2

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13 February 2018

https://scigraph.springernature.com/pub.10.1007/bf00206080

exact match

0 references

cites work

Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

1 reference

12 December 2020

Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome with deficiency of cytochrome-c-oxidase in cardiac and skeletal muscle. An enzymehistochemical--ultra-immunocytochemical--fine structural study in longterm frozen autopsy tissue.

1 reference

12 December 2020

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

1 reference

12 December 2020

Length mutations in human mitochondrial DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism

1 reference

12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers

1 reference

12 December 2020

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

1 reference

12 December 2020

Cloning of human mitochondrial DNA in Escherichia coli

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes

1 reference

12 December 2020

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

1 reference

12 December 2020

Nucleotide sequence preservation of human mitochondrial DNA.

1 reference

12 December 2020

Duplications of mitochondrial DNA in mitochondrial myopathy

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00206080

1 reference

13 February 2018

1 reference

13 February 2018