(Q64042326)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20852969%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20852969%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20852969%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

author name string

Laura Anesi

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20852969%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Paola de Gemmis

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20852969%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Massimo Pandolfo

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20852969%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

language of work or name

English

0 references

publication date

18 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20852969%20AND%20SRC:MED&resulttype=core&format=json

Journal of Molecular Neuroscience

14 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20852969%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20852969%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20852969%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

page(s)

346-349

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20852969%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s12031-010-9448-4

14 February 2020

exact match

0 references

cites work

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

1 reference

12 December 2020

UPD 13: no indication of maternal or paternal imprinting of genes on chromosome 13.

1 reference

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

A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy

1 reference

12 December 2020

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

1 reference

12 December 2020