(Q43925336)

28 November 2017

title

Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS. (English)

1 reference

Charlevoix-Saguenay spastic ataxia

28 November 2017

main subject

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Haruo Shimazaki

1

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author name string

Yoshihisa Takiyama

2

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28 November 2017

Junko Honda

3

1 reference

28 November 2017

Kumi Sakoe

4

1 reference

28 November 2017

Michito Namekawa

5

1 reference

28 November 2017

Jun Tsugawa

6

1 reference

28 November 2017

Yoshio Tsuboi

7

1 reference

28 November 2017

Chieko Suzuki

8

1 reference

28 November 2017

Masayuki Baba

9

1 reference

28 November 2017

Imaharu Nakano

10

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28 November 2017

language of work or name

1 reference

23 January 2012

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28 November 2017

published in

Journal of Neuroimaging

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28 November 2017

volume

23

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28 November 2017

issue

1

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28 November 2017

page(s)

82-85

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A phenotype without spasticity in sacsin-related ataxia

28 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

Identification of a SACS gene missense mutation in ARSACS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

Novel compound heterozygous mutations in sacsin-related ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

Sacsinopathies: sacsin-related ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

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/10.1111%2FJ.1552-6569.2011.00647.X

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1552-6569.2011.00647.X

10.1111/J.1552-6569.2011.00647.X

21 January 2018

Identifiers

DOI

1 reference

28 November 2017

1 reference