(Q24678122)

22

0 references

Rita Horvath

21

0 references

Patrick Yu-Wai-Man

19

0 references

Rubens Belfort

17

0 references

Alessandro Achilli

6

0 references

Chiara La Morgia

Chiara La Morgia

10

0 references

Maria Lucia Valentino

Maria Lucia Valentino

11

0 references

Valerio Carelli

Valerio Carelli

2

0 references

Angela Pyle

7

Angela Pyle

0 references

Patrick F. Chinnery

25

Patrick F Chinnery

0 references

Solange R Salomao

16

Solange R Salomao

0 references

Gavin Hudson

1

Gavin Hudson

0 references

Liesbeth Spruijt

3

Liesbeth Spruijt

0 references

Kirsi Huoponen

12

Kirsi Huoponen

0 references

Marja-Liisa Savontaus

13

Marja-Liisa Savontaus

0 references

Eeva Nikoskelainen

14

Eeva Nikoskelainen

0 references

Philip Griffiths

18

Philip Griffiths

0 references

Hubert J M Smeets

23

Hubert J T Smeets

0 references

Joanna L Elson

8

Joanna Elson

0 references

Neil J Howell

9

Neil Howell

0 references

René de Coo

20

Rene F M de Coo

0 references

author name string

Mike Gerards

4

0 references

Catherine Mowbray

5

0 references

Alfredo A Sadun

American Journal of Human Genetics

15

0 references

language of work or name

English

0 references

publication date

August 2007

0 references

published in

0 references

volume

81

0 references

page(s)

228-33

0 references

issue

2

0 references

cites work

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Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

7 April 2017

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Saami and Berbers--an unexpected mitochondrial DNA link

7 April 2017

1 reference

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

7 April 2017

1 reference

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The epidemiology of Leber hereditary optic neuropathy in the North East of England

7 April 2017

1 reference

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Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups

7 April 2017

1 reference

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Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

7 April 2017

1 reference

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Harvesting the fruit of the human mtDNA tree

7 April 2017

1 reference

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Mitochondrial dysfunction as a cause of optic neuropathies

7 April 2017

1 reference

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

7 April 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

28 September 2017

1 reference

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Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

28 September 2017

1 reference

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Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy

28 September 2017

1 reference

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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.

28 September 2017

1 reference

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Mitochondrial DNA sequence variation in human evolution and disease.

28 September 2017

1 reference

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Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.

28 September 2017

1 reference

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X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950812

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

28 September 2017

1 reference

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Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy

30 May 2018

1 reference

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Significance of respirasomes for the assembly/stability of human respiratory chain complex I.

30 May 2018

1 reference

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Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950812

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950812

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950812

Low penetrance of the 14484 LHON mutation when it arises in a non‐haplogroup J mtDNA background

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950812

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

28 November 2018

1 reference

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An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production

28 November 2018

1 reference

12 December 2020

A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy

1 reference

12 December 2020

From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers

1 reference

12 December 2020

Heteroplasmy in Leber's hereditary optic neuropathy

1 reference

12 December 2020

Human mitochondrial diseases: answering questions and questioning answers

1 reference

12 December 2020

A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1086/519394

1 reference

4540431

4540431

1 reference

1 reference

1 reference