(Q48846881)

16 February 2018

title

New findings in the ataxia of Charlevoix-Saguenay. (English)

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16 February 2018

Charlevoix-Saguenay spastic ataxia

main subject

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author

Claudia Nesti

9

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16 February 2018

Luis Emilio Pablo

object named as

Luis Emilio Pablo

5

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Filippo Maria Santorelli

8

object named as

Filippo Maria Santorelli

1 reference

16 February 2018

12

José Berciano

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16 February 2018

José Gazulla

1

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16 February 2018

Isabel Benavente

2

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16 February 2018

Ana Carmen Vela

3

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16 February 2018

Miguel Angel Marín

4

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16 February 2018

Alessandra Tessa

6

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16 February 2018

María Rosario Barrena

7

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16 February 2018

Pedro Modrego

10

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16 February 2018

María Tintoré

11

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16 February 2018

publication date

13 October 2011

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16 February 2018

published in

Journal of Neurology

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16 February 2018

volume

259

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16 February 2018

issue

5

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16 February 2018

page(s)

869-878

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16 February 2018

https://scigraph.springernature.com/pub.10.1007/s00415-011-6269-5

exact match

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cites work

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

Alternative excitotoxic hypotheses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

A novel mutation in SACS gene in a family from southern Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

Excitatory amino acids as a final common pathway for neurologic disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

Diffusion tensor imaging of spinocerebellar ataxias types 1 and 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

A phenotype without spasticity in sacsin-related ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

Diffusivity and diffusion anisotropy of cerebellar peduncles in cases of spinocerebellar degenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

Orthogonal diffusion-weighted MRI measures distinguish region-specific degeneration in cerebellar ataxia subtypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-6269-5

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

21 January 2018

1 reference

12 December 2020

Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders

1 reference

12 December 2020

Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients

1 reference

12 December 2020

The Neuropathy of Charlevoix-Saguenay Ataxia: An Electrophysiological and Pathological Study

1 reference

12 December 2020

Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy

1 reference

12 December 2020

Novel SACS mutation in a Belgian family with sacsin-related ataxia

1 reference

12 December 2020

Correlations of nerve conduction measures in axonal and demyelinating polyneuropathies

1 reference

12 December 2020

The effect of myelinating Schwann cells on axons.

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.

1 reference

12 December 2020

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

1 reference

12 December 2020

At the crossroads between developmental and degenerative diseases: the cerebellar disorders of early infancy. Classification and practical approach

1 reference

12 December 2020

Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS

1 reference

12 December 2020

10.1007/S00415-011-6269-5

Identifiers

DOI

1 reference

16 February 2018

1 reference

16 February 2018