(Q28658594)

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Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

scientific article (publication date: May 2014)

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title

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes (English)

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main subject

sensory nervous system

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Charlevoix-Saguenay spastic ataxia

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Helen Griffin

3

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Rita Horvath

object named as

Rita Horvath

series ordinal

5

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Angela Pyle

series ordinal

2

object named as

Angela Pyle

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Patrick F. Chinnery

series ordinal

6

object named as

Patrick F Chinnery

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Mauro Santibanez-Korev

series ordinal

4

object named as

Mauro Santibanez-Korev

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Patrick Yu-Wai-Man

series ordinal

1

object named as

Patrick Yu-Wai-Man

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language of work or name

English

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publication date

May 2014

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published in

British Journal of Ophthalmology

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volume

98

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issue

5

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page(s)

711-3

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cites work

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995215

retrieved

17 March 2017

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995215

retrieved

3 June 2018

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995215

retrieved

3 June 2018

Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995215

retrieved

3 June 2018

Visual system involvement in patients with Friedreich's ataxia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995215

retrieved

3 June 2018

Sacsinopathies: sacsin-related ataxia

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304534

retrieved

21 January 2018

Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304534

retrieved

21 January 2018

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304534

retrieved

21 January 2018

Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304534

retrieved

21 January 2018

The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1136%2FBJOPHTHALMOL-2013-304534

retrieved

21 January 2018

Identifiers

DOI

10.1136/BJOPHTHALMOL-2013-304534

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ResearchGate publication ID

259882006

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(Q28658594)

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

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