(Q35194426)

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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.

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12 October 2019

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 (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8447321%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

Nils-Göran Larsson

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Larsson NG

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12 October 2019

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Holme E

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12 October 2019

Oldfors A

3

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12 October 2019

Tulinius M

4

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12 October 2019

Sahlin P

5

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12 October 2019

Stenman G

6

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12 October 2019

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1 March 1993

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12 October 2019

American Journal of Human Genetics

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12 October 2019

52

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12 October 2019

3

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12 October 2019

551-556

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12 October 2019

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

Maternally inherited mitochondrial myopathy and myoclonic epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

Consistent involvement of band 12q14 in two different translocations in three lipomas from the same patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

Chromosomal patterns in human benign uterine leiomyomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

Cytogenetic and molecular observations in human and experimental salivary gland tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 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=1682176

28 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682176

28 July 2018

Clinical spectrum of mitochondrial DNA mutation at base pair 8344

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clonal chromosome abnormalities and in vitro growth characteristics of classical and cellular schwannomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructure of benign and malignant adipose tissue tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructure of lipoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of the Y chromosome in a cultured human salivary-gland adenocarcinoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome abnormalities in two benign adipose tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three major cytogenetic subgroups can be identified among chromosomally abnormal solitary lipomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different karyotypic features characterize different clinico-pathologic subgroups of benign lipogenic tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple symmetric lipomatosis. Ultrastructural investigation of the tissue and preadipocytes in primary culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic profile of 109 lipomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447321

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/8447321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8447321%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8447321%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

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