(Q61606229)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1

1 reference

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5 December 2019

Marina Mora

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Eleonora Lamantea

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

F Carrara

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

P Confalonieri

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

R M Maffei

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

M Zeviani

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

publication date

1 March 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

volume

9

1 reference

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5 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

page(s)

66-71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

cites work

Mitochondrial Disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

Neurological presentations of mitochondrial diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900103-5

7 January 2021

10.1016/S0960-8966(98)00103-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10220860%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference