(Q45057985)

English

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

scientific article published on 21 July 2012

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8 February 2020

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series (English)

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8 February 2020

Charlevoix-Saguenay spastic ataxia

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3

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8 February 2020

Ludovico Minati

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8 February 2020

Fabiana Fattori

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8 February 2020

Alessandra Erbetta

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8 February 2020

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8 February 2020

Filippo Maria Santorelli

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8 February 2020

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E Prodi

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8 February 2020

M Grisoli

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8 February 2020

G Uziel

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8 February 2020

S D'Arrigo

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8 February 2020

A Tessa

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8 February 2020

M Savoiardo

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8 February 2020

C Mariotti

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8 February 2020

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21 July 2012

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8 February 2020

European Journal of Neurology

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8 February 2020

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8 February 2020

1

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8 February 2020

138-146

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8 February 2020

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Sacsinopathies: sacsin-related ataxia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Mutations in SACS cause atypical and late-onset forms of ARSACS.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

A phenotype without spasticity in sacsin-related ataxia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Is the ataxia of Charlevoix-Saguenay a developmental disease?

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

New findings in the ataxia of Charlevoix-Saguenay.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Reproducibility of quantitative tractography methods applied to cerebral white matter

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

The neurodegenerative-disease-related protein sacsin is a molecular chaperone.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

The sacsin repeating region (SRR): a novel Hsp90-related supra-domain associated with neurodegeneration

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Structure and connections of the thalamic reticular nucleus: Advancing views over half a century

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Human genetic disorders of axon guidance

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03815.X

21 January 2018

Identifiers

10.1111/J.1468-1331.2012.03815.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22816526%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22816526%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

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