Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF) (Q35196308)

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scientific article published on December 1, 1992

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English	Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)	scientific article published on December 1, 1992

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scholarly article

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Europe PubMed Central

PubMed publication ID

7 August 2017

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF) (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%3A1334369

15 September 2022

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myoclonic epilepsy

1 reference

based on heuristic

inferred from title

author name string

L. Boulet

1

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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%3A1334369

15 September 2022

G. Karpati

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%3A1334369

15 September 2022

E. A. Shoubridge

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1334369

15 September 2022

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publication date

1 December 1992

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Europe PubMed Central

PubMed publication ID

7 August 2017

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1334369/pdf/?tool=EBI

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1 reference

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%3A1334369

15 September 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1334369/?tool=EBI

online access status

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%3A1334369

15 September 2022

https://europepmc.org/articles/PMC1682926

online access status

content deliverer

Europe PubMed Central

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%3A1334369

15 September 2022

https://europepmc.org/articles/PMC1682926?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

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%3A1334369

15 September 2022

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

51

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

1187-1200

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

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Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction

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Isolation and characterization of human muscle cells

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13 July 2018

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

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Maternally inherited mitochondrial myopathy and myoclonic epilepsy

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Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome

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Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease

1 reference

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13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

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

1 reference

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In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

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13 July 2018

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

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Biogenesis of mitochondrial proteins in HeLa cells

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

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

1 reference

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Clinical spectrum of mitochondrial DNA mutation at base pair 8344

1 reference

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12 December 2020

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Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease

1 reference

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12 December 2020

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Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

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

1 reference

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Mitochondrial DNA in mortal and immortal human cells. Genome number, integrity, and methylation

1 reference

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Muscle histopathology in myoclonus epilepsy with ragged-red fibers (MERRF)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

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Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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