(Q70797552)

English

Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

scientific article published on 01 January 1995

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8525809%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8525809%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Nils-Göran Larsson

4

object named as

N G Larsson

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14 October 2019

author name string

A Oldfors

1

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14 October 2019

E Holme

2

1 reference

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14 October 2019

M Tulinius

3

1 reference

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14 October 2019

publication date

1 January 1995

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14 October 2019

Acta Neuropathologica

1 reference

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14 October 2019

90

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14 October 2019

3

1 reference

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14 October 2019

328-333

1 reference

Europe PubMed Central

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14 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00296519

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial dysfunction in multiple symmetrical lipomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

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

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

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

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial myopathies with necrotizing encephalopathy of the Leigh type.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable genotype of Leber's hereditary optic neuropathy patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

EEG findings in children and adolescents with mitochondrial encephalomyopathies: a study of 25 cases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

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

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leber's hereditary optic neuropathy and complex I deficiency in muscle.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuropathology of myoclonus epilepsy associated with ragged-red fibers (Fukuhara's disease).

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MERRF: a clinicopathological study. Relationships between myoclonus epilepsies and mitochondrial myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8525809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00296519

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8525809%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8525809%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

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