(Q35131105)

6 August 2017

title

Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients (English)

1 reference

Charlevoix-Saguenay spastic ataxia

6 August 2017

main subject

0 references

author

Filippo Maria Santorelli

6

object named as

Filippo M Santorelli

1 reference

6 August 2017

Luis E Pablo

1

1 reference

6 August 2017

Elena Garcia-Martin

2

1 reference

6 August 2017

Jose Gazulla

3

1 reference

6 August 2017

Jose M Larrosa

4

1 reference

6 August 2017

Antonio Ferreras

5

1 reference

6 August 2017

Isabel Benavente

7

1 reference

6 August 2017

Ana Vela

8

1 reference

6 August 2017

Miguel A Marin

9

1 reference

6 August 2017

publication date

13 July 2011

1 reference

6 August 2017

1 reference

6 August 2017

volume

17

1 reference

6 August 2017

page(s)

1871-1876

1 reference

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144729

Identification of a SACS gene missense mutation in ARSACS.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144729

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144729

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144729

Intra and interoperator reproducibility of retinal nerve fibre and macular thickness measurements using Cirrus Fourier-domain OCT.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3144729

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850161

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850161

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characteristic MRI and funduscopic findings help diagnose ARSACS outside Quebec

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850161

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

3144729

1 reference

6 August 2017

1 reference