(Q50452323)

14 March 2018

title

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

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14 March 2018

Charlevoix-Saguenay spastic ataxia

main subject

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author

Bernard Thienpont

3

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14 March 2018

Steven van Vooren

object named as

Steven Van Vooren

4

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Joris R Vermeesch

5

object named as

Joris Robert Vermeesch

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14 March 2018

author name string

Jeroen Breckpot

1

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14 March 2018

Yoshihisa Takiyama

2

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14 March 2018

Els Ortibus

6

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14 March 2018

Koenraad Devriendt

7

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publication date

9 April 2008

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14 March 2018

European Journal of Human Genetics

published in

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volume

16

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14 March 2018

issue

9

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14 March 2018

page(s)

1050-1054

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.58

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

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/10.1038%2FEJHG.2008.58

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

Identification of a SACS gene missense mutation in ARSACS.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

Novel compound heterozygous mutations in sacsin-related ataxia

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

Copy-number variation in control population cohorts

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

Deletions that reveal recessive genes

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.58

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.58

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14 March 2018

1 reference

14 March 2018