(Q61943963)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

Filippo Martinelli Boneschi

12 November 2019

author

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Marco Crimi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Nereo Bresolin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Giacomo P Comi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

5

Monica Sciacco

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

2

Andreina Bordoni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

Roberto Del Bo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Guglielmo Scarlato

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

publication date

1 October 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

12 November 2019

number of pages

7

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

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12 November 2019

volume

202

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

1-2

1 reference

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12 November 2019

page(s)

85-91

1 reference

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Oxidative damage and mitochondrial decay in aging

12 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Mitochondrial DNA mutations in the pathogenesis of human disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Mitochondrial encephalomyopathies: gene mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

MtDNA deletions in aging and in nonmitochondrial pathologies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Mitochondrial DNA rearrangements in aging human brain and in situ PCR of mtDNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Occurrence of a particular base substitution (3243 A to G) in mitochondrial DNA of tissues of ageing humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication

7 January 2021

1 reference

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Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Role of adenine nucleotide translocator 1 in mtDNA maintenance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Sequence and organization of the human mitochondrial genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

7 January 2021

Aging and mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

In organello footprint analysis of human mitochondrial DNA: human mitochondrial transcription factor A interactions at the origin of replication

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Down's syndrome fibroblasts anticipate the accumulation of specific ageing-related mtDNA mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

7 January 2021

The other human genome

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Nuclear genetic defects of oxidative phosphorylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

Oxidative phosphorylation dysfunction does not increase the rate of accumulation of age-related mtDNA deletions in skeletal muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900247-2

10.1016/S0022-510X(02)00247-2

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12220698%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference