(Q55068072)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9778262%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9778262%20AND%20SRC:MED&resulttype=core&format=json

progressive myoclonus epilepsy

5 December 2019

main subject

1 reference

based on heuristic

inferred from title

mitochondrial myopathy

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9778262%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

Jaksch M

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9778262%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Klopstock T

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9778262%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Kurlemann G

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9778262%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Dörner M

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9778262%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Hofmann S

5

1 reference

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5 December 2019

Kleinle S

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9778262%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Weissert M

8

1 reference

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5 December 2019

Müller-Höcker J

9

1 reference

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5 December 2019

Pongratz D

10

1 reference

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5 December 2019

Gerbitz KD

11

1 reference

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5 December 2019

publication date

1 October 1998

1 reference

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5 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9778262%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

volume

44

1 reference

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5 December 2019

issue

4

1 reference

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5 December 2019

page(s)

635-640

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9778262%20AND%20SRC:MED&resulttype=core&format=json

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

5 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FANA.410440409

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410440409

Mitochondrial mutation associated with nonsyndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410440409

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410440409

Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410440409

Sequence and organization of the human mitochondrial genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410440409

Transfer RNA: Molecular Structure, Sequence, and Properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410440409

Classification of progressive myoclonus epilepsies and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410440409

21 January 2018

Identifiers

DOI

10.1002/ANA.410440409

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9778262%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference