(Q28216119)

English

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene

scientific article (publication date: December 2001)

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803487%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803487%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

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based on heuristic

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Anders Fuglsang-Frederiksen

10

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803487%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

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L Tranebjaerg

1

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6 December 2019

P K Jensen

2

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6 December 2019

M Van Ghelue

3

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6 December 2019

C L Vnencak-Jones

4

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6 December 2019

S Sund

5

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Europe PubMed Central

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6 December 2019

K Elgjo

6

1 reference

Europe PubMed Central

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6 December 2019

J Jakobsen

7

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6 December 2019

S Lindal

8

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6 December 2019

M Warburg

9

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6 December 2019

K Skullerud

11

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6 December 2019

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publication date

1 December 2001

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Europe PubMed Central

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6 December 2019

Ophthalmic Genetics

1 reference

Europe PubMed Central

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6 December 2019

22

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6 December 2019

4

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6 December 2019

207-223

1 reference

Europe PubMed Central

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6 December 2019

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.4.207.2220

21 January 2018

Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome.

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.4.207.2220

21 January 2018

The syndrome of opticoacoustic nerve atrophy with dementia.

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.4.207.2220

21 January 2018

Human deafness dystonia syndrome is a mitochondrial disease

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.4.207.2220

21 January 2018

Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.4.207.2220

21 January 2018

Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.4.207.2220

21 January 2018

Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.4.207.2220

21 January 2018

Molecular genetic characterization of an X-linked form of Leigh's syndrome.

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.4.207.2220

21 January 2018

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.4.207.2220

21 January 2018

Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.4.207.2220

21 January 2018

Identifiers

10.1076/OPGE.22.4.207.2220

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803487%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803487%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

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