(Q39628578)

13 September 2017

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

1 reference

Charlevoix-Saguenay spastic ataxia

13 September 2017

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Hans Scheffer

10

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Sascha Vermeer

1

object named as

Sascha Vermeer

1 reference

13 September 2017

9

Nine V A M Knoers

1 reference

13 September 2017

Rowdy P P Meijer

2

1 reference

13 September 2017

Benjamin J Pijl

3

1 reference

13 September 2017

Janneke Timmermans

4

1 reference

13 September 2017

Johannes R M Cruysberg

5

1 reference

13 September 2017

Maaike M Bos

6

1 reference

13 September 2017

Helenius J Schelhaas

7

1 reference

13 September 2017

Bart P C van de Warrenburg

8

1 reference

13 September 2017

Berry Kremer

11

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13 September 2017

language of work or name

1 reference

9 May 2008

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13 September 2017

1 reference

13 September 2017

9

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13 September 2017

3

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13 September 2017

207-214

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https://scigraph.springernature.com/pub.10.1007/s10048-008-0131-7

13 September 2017

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cites work

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

Diagnosis and management of early- and late-onset cerebellar ataxia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

Scale for the assessment and rating of ataxia: development of a new clinical scale

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

Novel compound heterozygous mutations in sacsin-related ataxia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

A phenotype without spasticity in sacsin-related ataxia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

Recent advances in hereditary spinocerebellar ataxias

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

Identification of a SACS gene missense mutation in ARSACS.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

Friedreich's ataxia: treatment within reach

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

Movement disorders in Friedreich's ataxia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

The natural history of degenerative ataxia: a retrospective study in 466 patients.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

New mutation in the non-gigantic exon of SACS in Japanese siblings.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441586

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

2 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families

1 reference

12 December 2020

Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia

1 reference

12 December 2020

Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals

1 reference

12 December 2020

Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia

1 reference

12 December 2020

10.1007/S10048-008-0131-7

Identifiers

DOI

1 reference

13 September 2017

1 reference

13 September 2017

1 reference