(Q42969872)

11 November 2017

title

Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome (English)

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Leber hereditary optic neuropathy

11 November 2017

main subject

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2

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11 November 2017

Lucia Artuso

4

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author name string

Stefano Zoccolella

1

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11 November 2017

Francesco Prascina

3

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11 November 2017

Francesca Pacillo

5

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11 November 2017

Rosa Dell'Aglio

6

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11 November 2017

Carlo Avolio

7

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11 November 2017

Nicola Delle Noci

8

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11 November 2017

Marcella Attimonelli

9

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11 November 2017

Luigi Maria Specchio

10

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11 November 2017

publication date

15 July 2010

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11 November 2017

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11 November 2017

volume

257

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11 November 2017

issue

12

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11 November 2017

page(s)

1999-2003

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Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations

11 November 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS00415-010-5649-6

Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy

21 January 2018

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12 December 2020

Leber hereditary optic neuropathy

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12 December 2020

Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families

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12 December 2020

Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants

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12 December 2020

You're too old for that

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12 December 2020

Leber hereditary optic neuropathy presenting in a 75-year-old man

1 reference

12 December 2020

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

1 reference

12 December 2020

Investigation of auditory dysfunction in Leber hereditary optic neuropathy

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12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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12 December 2020

Non-arteritic anterior ischaemic optic neuropathy: a review and update

1 reference

12 December 2020

Leber hereditary optic neuropathy in an octogenarian

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12 December 2020

Late-onset Leber's hereditary optic neuropathy

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12 December 2020

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.

1 reference

12 December 2020

Harvesting the fruit of the human mtDNA tree

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12 December 2020

The spectrum of Susac's syndrome

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12 December 2020

Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy

1 reference

12 December 2020

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

1 reference

12 December 2020

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation

1 reference

12 December 2020

Late onset of Leber's hereditary optic neuropathy precipitated by anaemia

1 reference

12 December 2020

Mitochondrial disease in mouse results in increased oxidative stress

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12 December 2020

Leber's hereditary optic neuropathy: a multifactorial disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The power to detect disease associations with mitochondrial DNA haplogroups

1 reference

12 December 2020

10.1007/S00415-010-5649-6

Identifiers

DOI

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11 November 2017

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