(Q34507282)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

Leber hereditary optic neuropathy

17 January 2020

main subject

mitochondrial DNA

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Maria Pala

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Valerio Carelli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Maria Lucia Valentino

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Ornella Semino

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Anna Olivieri

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Francesco Pallotti

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Vincenzo Leuzzi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Giorgio Valle

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Barbara Simionati

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Rubens Belfort, Jr

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

20

Antonio Torroni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

4

Chiara Rengo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

17

Solange Salomao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

11

Massimo Zeviani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Marina Mattiazzi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Franco Carrara

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Carla Carducci

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Luana Mendieta

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Alfredo A Sadun

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

language of work or name

English

0 references

publication date

27 January 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

17 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

564-574

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

The role of selection in the evolution of human mitochondrial genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

mtDNA mutations and common neurodegenerative disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Saami and Berbers--an unexpected mitochondrial DNA link

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Structure of a mitochondrial supercomplex formed by respiratory-chain complexes I and III

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Respiratory complex III is required to maintain complex I in mammalian mitochondria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial dysfunction as a cause of optic neuropathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA polymorphisms associated with longevity in a Finnish population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Do the four clades of the mtDNA haplogroup L2 evolve at different rates?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Human mtDNA haplogroups associated with high or reduced spermatozoa motility

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA 3644T-->C mutation associated with bipolar disorder

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Visual electrophysiologic findings in patients from an extensive Brazilian family with Leber's hereditary optic neuropathy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Recombination of human mitochondrial DNA.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Leber's hereditary optic neuropathy: the spectrum of mitochondrial DNA mutations in Iranian patients.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424694

Mitochondrial DNA polymorphism: its role in longevity of the Irish population

27 October 2018

1 reference

12 December 2020

mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish

1 reference

12 December 2020

Heterologous mitochondrial DNA recombination in human cells

1 reference

12 December 2020

Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease

1 reference

12 December 2020

mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine

1 reference

12 December 2020

mtDNA haplogroup J: a contributing factor of optic neuritis

1 reference

12 December 2020

Identifiers

DOI

10.1086/501236

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532388%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

16532388

1 reference