(Q46732064)

24 December 2017

title

Sacsinopathies: sacsin-related ataxia (English)

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24 December 2017

author name string

Yoshihisa Takiyama

series ordinal

1

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24 December 2017

publication date

28 February 2007

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24 December 2017

published in

The Cerebellum

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24 December 2017

volume

6

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24 December 2017

issue

4

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24 December 2017

page(s)

353-359

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24 December 2017

https://scigraph.springernature.com/pub.10.1080/14734220701230466

exact match

0 references

cites work

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

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12 December 2020

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

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12 December 2020

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12 December 2020

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

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12 December 2020

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

1 reference

12 December 2020

Novel compound heterozygous mutations in sacsin-related ataxia

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12 December 2020

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

1 reference

12 December 2020

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

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12 December 2020

A phenotype without spasticity in sacsin-related ataxia

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12 December 2020

Population history and its impact on medical genetics in Quebec

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12 December 2020

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

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12 December 2020

Identification of a SACS gene missense mutation in ARSACS.

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12 December 2020

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

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12 December 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

12 December 2020

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

1 reference

12 December 2020

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

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12 December 2020

Genetic consequences of differential demographic behaviour in the Saguenay region, Québec

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12 December 2020

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

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12 December 2020

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population

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12 December 2020

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

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12 December 2020

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12 December 2020

Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia

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12 December 2020

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12 December 2020

Early onset cerebellar ataxia and preservation of tendon reflexes: clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes

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12 December 2020

Cerebral blood flow in spinocerebellar degenerations: a single photon emission tomography study in 28 patients

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12 December 2020

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

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12 December 2020

1 reference

12 December 2020

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay

1 reference

12 December 2020

10.1080/14734220701230466

Identifiers

DOI

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24 December 2017

Dimensions Publication ID

1049323154

0 references

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24 December 2017