(Q48604077)

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Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome

scientific article published on January 1, 1992

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Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/1300181

Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300181

10 September 2022

mitochondrial DNA

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Lombès A

1

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/1300181

A. Lombès

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300181

10 September 2022

C. Diaz

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300181

10 September 2022

N. B. Romero

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300181

10 September 2022

F. Ziegler

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300181

10 September 2022

M. Fardeau

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1300181

10 September 2022

language of work or name

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National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1300181

10 September 2022

publication date

1 January 1992

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/1300181

Neuromuscular Disorders

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Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/1300181

2

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/1300181

5-6

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/1300181

323-330

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/1300181

KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION

1 reference

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7 January 2021

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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980003-9

7 January 2021

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

1 reference

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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

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7 January 2021

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Mitochondrial DNA deletions in mitochondrial cytopathies: Observations in 19 patients

1 reference

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7 January 2021

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Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

1 reference

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7 January 2021

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

1 reference

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

1 reference

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Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Mitochondrial DNA mutations and neuromuscular disease

1 reference

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7 January 2021

based on heuristic

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Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

1 reference

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7 January 2021

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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

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980003-9

7 January 2021

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Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)

1 reference

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7 January 2021

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Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease

1 reference

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7 January 2021

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Clinical spectrum of mitochondrial DNA mutation at base pair 8344

1 reference

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7 January 2021

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Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients

1 reference

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7 January 2021

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Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics

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7 January 2021

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Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

1 reference

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Preparation of synaptic and nonsynaptic mitochondria from mammalian brain

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Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

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7 January 2021

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Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980003-9

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2806%2980003-9

7 January 2021

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Rapid segregation of heteroplasmic bovine mitochondria

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Number of mitochondria and some properties of mitochondrial DNA in the mouse egg

1 reference

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7 January 2021

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Identifiers

10.1016/S0960-8966(06)80003-9

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/1300181

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/1300181

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