(Q36894187)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

author name string

G M Fabrizi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

E Cardaioli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

G S Grieco

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

T Cavallaro

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

A Malandrini

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

L Manneschi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

M T Dotti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

G Guazzi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

language of work or name

English

0 references

publication date

1 July 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

16 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

page(s)

47-51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

16 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

Melas: an original case and clinical criteria for diagnosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

The 3243 MELAS mutation in a pedigree with MERRF.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

MELAS: clinical features, biochemistry, and molecular genetics

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486456

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

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8676159

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8676159

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8676159

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JNNP.61.1.47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8676159%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

PubMed publication ID

8676159

1 reference