Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy (Q24562797)

2

R J

Marttila

1 reference

5 December 2023

K Huoponen

3

K

Huoponen

1 reference

5 December 2023

V Juvonen

4

V

Juvonen

1 reference

5 December 2023

T Lamminen

5

T

Lamminen

1 reference

5 December 2023

P Sonninen

6

P

Sonninen

1 reference

5 December 2023

M L Savontaus

7

M L

Journal of Neurology, Neurosurgery and Psychiatry

Savontaus

1 reference

5 December 2023

language of work or name

English

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publication date

August 1995

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published in

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volume

59

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page(s)

160-4

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issue

2

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cites work

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Melas: an original case and clinical criteria for diagnosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

LEBER'S DISEASE WITH SYMPTOMS RESEMBLING DISSEMINATED SCLEROSIS

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Leber's hereditary optic neuropathy. New genetic considerations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Familial dystonia and visual failure with striatal CT lucencies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Leber's hereditary optic atrophy: some clinical and aetiological considerations.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Does sporadic Leber's disease exist?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Leber's optic neuropathy and Charcot-Marie-Tooth disease. Report of a case

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Studies on Leber's optic neuropathy III.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Vascular involvement in mitochondrial myopathy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Clinicopathologic observations in essential tremor: report of six cases.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Leber's hereditary optic neuropathy and complex I deficiency in muscle.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. I. CLINICAL STUDIES.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Central nervous system involvement in Leber's 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=485991

BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=485991

Cytochrome b mutations in 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=485991

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

28 November 2018

1 reference

12 December 2020

Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation

1 reference

12 December 2020

Association of the 11778 mitochondrial DNA mutation and demyelinating disease

1 reference

12 December 2020

Leber's disease and dystonia: a mitochondrial disease

1 reference

12 December 2020

Relation of hereditary optic atrophy (leber) to the other familial degenerative diseases of central nervous system

1 reference

12 December 2020

Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees

1 reference

12 December 2020

Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy

1 reference

12 December 2020

Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation

1 reference

12 December 2020

Essential tremor in a Finnish population

1 reference

12 December 2020

Charcot-Marie-Tooth disease with Leber optic atrophy

1 reference

12 December 2020

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJNNP.59.2.160

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JNNP.59.2.160

1 reference

release_hfdvdovpm5dsljtkslylvqfl5e

3248856

Fatcat ID

0 references

3248856

1 reference

1 reference

1 reference