(Q40560640)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

author name string

Zeviani M

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

Amati P

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

Bresolin N

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

Antozzi C

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

Piccolo G

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

Toscano A

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

DiDonato S

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

language of work or name

English

0 references

publication date

1 February 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

20 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

volume

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

page(s)

203-211

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

Sequence and organization of the human mitochondrial genome

20 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

Transfer RNA: Molecular Structure, Sequence, and Properties

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

Maternally inherited mitochondrial myopathy and myoclonic epilepsy.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

Gene for a novel tRNA species that accepts L-serine and cotranslationally inserts selenocysteine.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683006

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

17 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1899320

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The three-dimensional structure of transfer RNA / Alexander Rich and Sung Hou Kim. - (1.1978)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1899320

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1899320%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

PubMed publication ID

1899320

1 reference