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Hereditary optic neuropathies
scientific article published on 01 November 2004
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Europe PubMed Central
PubMed publication ID
15534600
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15534600%20AND%20SRC:MED&resulttype=core&format=json
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4 January 2020
review article
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title
Hereditary optic neuropathies
(English)
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Europe PubMed Central
PubMed publication ID
15534600
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15534600%20AND%20SRC:MED&resulttype=core&format=json
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4 January 2020
author name string
Newman NJ
series ordinal
1
1 reference
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Europe PubMed Central
PubMed publication ID
15534600
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15534600%20AND%20SRC:MED&resulttype=core&format=json
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4 January 2020
Biousse V
series ordinal
2
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Europe PubMed Central
PubMed publication ID
15534600
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4 January 2020
publication date
1 November 2004
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15534600
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4 January 2020
published in
Eye
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Europe PubMed Central
PubMed publication ID
15534600
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4 January 2020
volume
18
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Europe PubMed Central
PubMed publication ID
15534600
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15534600%20AND%20SRC:MED&resulttype=core&format=json
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4 January 2020
issue
11
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Europe PubMed Central
PubMed publication ID
15534600
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15534600%20AND%20SRC:MED&resulttype=core&format=json
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4 January 2020
page(s)
1144-1160
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Europe PubMed Central
PubMed publication ID
15534600
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4 January 2020
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https://scigraph.springernature.com/pub.10.1038/sj.eye.6701591
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Hereditary optic neuropathies
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LEBER'S DISEASE IN THE NETHERLANDS.
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The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
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Leber hereditary optic neuropathy in Australia
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7 January 2021
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The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
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7 January 2021
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Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations
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Leber's hereditary optic neuropathy--the spectrum of mitochondrial DNA mutations in Chinese patients
1 reference
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7 January 2021
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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
1 reference
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7 January 2021
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Leber's hereditary optic neuropathy. New genetic considerations
1 reference
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7 January 2021
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The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
1 reference
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7 January 2021
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Leber hereditary optic neuropathy: clinical and molecular genetic findings
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
based on heuristic
inferred from DOI database lookup
Leber hereditary optic neuropathy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
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inferred from DOI database lookup
The epidemiology of pathogenic mitochondrial DNA mutations
1 reference
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reference URL
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7 January 2021
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The epidemiology of Leber hereditary optic neuropathy in the North East of England
1 reference
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reference URL
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7 January 2021
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inferred from DOI database lookup
Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy
1 reference
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Crossref
reference URL
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7 January 2021
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Sporadic Leber hereditary optic neuropathy in Australia and New Zealand
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Crossref
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7 January 2021
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Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees
1 reference
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7 January 2021
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Leber's optic neuropathy: a clinical and visual evoked potential study of affected and asymptomatic members of a six generation family
1 reference
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7 January 2021
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Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy
1 reference
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Crossref
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7 January 2021
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Relative afferent pupillary defects in patients with Leber hereditary optic neuropathy and unilateral visual loss
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Atypical Leber's hereditary optic neuropathy with molecular confirmation.
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Ocular Fundus in Acute Leber Optic Neuropathy
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Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy
1 reference
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Crossref
reference URL
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1 reference
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Crossref
reference URL
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High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy
1 reference
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reference URL
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A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance
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1 reference
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1 reference
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7 January 2021
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inferred from DOI database lookup
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1 reference
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Crossref
reference URL
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7 January 2021
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1 reference
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7 January 2021
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1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
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1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
based on heuristic
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Magnetic resonance imaging in Leber's optic neuropathy
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation
1 reference
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reference URL
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7 January 2021
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inferred from DOI database lookup
Magnetic resonance imaging findings in Leber's hereditary optic neuropathy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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inferred from DOI database lookup
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1 reference
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7 January 2021
based on heuristic
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Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy.
1 reference
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Optic nerve and chiasmal enhancement in leber hereditary optic neuropathy
1 reference
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7 January 2021
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Chiasmal Enlargement and Optic Nerve Enhancement on Magnetic Resonance Imaging in Leber Hereditary Optic Neuropathy
1 reference
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7 January 2021
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Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case
1 reference
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7 January 2021
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inferred from DOI database lookup
A histopathologic and morphometric differentiation of nerves in optic nerve hypoplasia and Leber hereditary optic neuropathy
1 reference
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7 January 2021
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From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers
1 reference
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7 January 2021
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1 reference
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7 January 2021
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De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy
1 reference
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7 January 2021
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inferred from DOI database lookup
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1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
based on heuristic
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Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations
1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
based on heuristic
inferred from DOI database lookup
Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations
1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.
1 reference
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEING
1 reference
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7 January 2021
based on heuristic
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Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team
1 reference
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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1 reference
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778
1 reference
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
based on heuristic
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Optic neuropathy after treatment with anti-tuberculous drugs in a subject with Leber's hereditary optic neuropathy mutation
1 reference
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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Leber's hereditary optic neuropathy in the setting of nucleoside analogue toxicity
1 reference
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection
1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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Optic neuropathy in a patient with AIDS.
1 reference
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7 January 2021
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Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve
1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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Mitochondrial disorders: an overview
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
based on heuristic
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Mitochondrial DNA mutations and pathogenesis
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
based on heuristic
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Suppression of complex I gene expression induces optic neuropathy
1 reference
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?
1 reference
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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Leber hereditary optic neuropathy: a nuclear solution of a mitochondrial problem
1 reference
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
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Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.
1 reference
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7 January 2021
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7 January 2021
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Diagnostic criteria in cominantly inherited juvenile optic atrophy. A report of three new families
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7 January 2021
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A Clinicopathologic Study of Autosomal Dominant Optic Atrophy
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7 January 2021
based on heuristic
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7 January 2021
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1 reference
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7 January 2021
based on heuristic
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Visual prognosis in autosomal dominant optic atrophy (Kjer type)
1 reference
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reference URL
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7 January 2021
based on heuristic
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Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
based on heuristic
inferred from DOI database lookup
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1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
based on heuristic
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Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy
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https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
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7 January 2021
based on heuristic
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1 reference
stated in
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The assessment of acquired dyschromatopsia and clinical investigation of the acquired tritan defect in dominantly inherited juvenile atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping the Bst mutation on mouse Chromosome 16: a model for human optic atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A family with apparently sex-linked optic atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Juvenile Diabetes Mellitus and Optic Atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-syndrome). Two affected sibs and a short review of the literature (98 cases).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Optic atrophy in Wolfram (DIDMOAD) syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Wolfram (DIDMOAD) syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ophthalmologic findings in fifteen patients with Wolfram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Uncommon ophthalmologic findings associated with Wolfram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Psychiatric disorders in 36 families with Wolfram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Wolfram syndrome: Evidence of a diffuse neurodegenerative disease by magnetic resonance imaging
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Morbidity and mortality in the Wolfram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Thiamine-responsive anemia in DIDMOAD syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial abnormalities in the DIDMOAD syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular characterization of WFS1 in patients with Wolfram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Behr's syndrome and 3-methylglutaconic aciduria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
3-Methylglutaconic aciduria in "optic atrophy plus".
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Practical approaches to neurogenetic disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The incidence and nature of visual pathway involvement in Friedreich's ataxia. A clinical and visual evoked potential study of 22 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Visual involvement in Friedreich's ataxia and hereditary spastic ataxia. A clinical and visual evoked response study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The molecular biology of the autosomal-dominant cerebellar ataxias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical features and molecular genetics of hereditary peripheral neuropathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Three modality evoked potentials in Charcot-Marie-Tooth disease (HMSN-1).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Optic atrophy in familial dysautonomia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cytochrome c oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuro-ophthalmology of mitochondrial diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Optic neuropathy in Lhon and Leigh syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701591
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/SJ.EYE.6701591
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15534600
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15534600%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
Dimensions Publication ID
1008237598
0 references
PubMed publication ID
15534600
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15534600
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15534600%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
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