Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family
Year of publication
2016
Authors
Palmio, Johanna;Kärppä, Mikko;Baumann, Peter;Penttilä, Sini;Moilanen, Jukka;Udd, BjarneUdd, Bjarne
Organizations and authors
Turku University Hospital Catchment Area
Udd Bjarne
Publication type
Publication format
Article
Parent publication type
Journal
Article type
Original article
Audience
ScientificPeer-reviewed
Peer-ReviewedMINEDU's publication type classification code
A1 Journal article (refereed), original researchPublication channel information
Journal
Parent publication name
Volume
4
Issue
12
Pages
1151-1156
ISSN
Publication forum
Publication forum level
0
Open access
Open access in the publisher’s service
Yes
Open access of publication channel
Fully open publication channel
Self-archived
Yes
Other information
Fields of science
Genetics, developmental biology, physiology; Biomedicine; Neurosciences; Neurology and psychiatry
Keywords
[object Object],[object Object],[object Object]
Internationality of the publisher
International
Language
English
International co-publication
Yes
Co-publication with a company
No
DOI
10.1002/ccr3.722
The publication is included in the Ministry of Education and Culture’s Publication data collection
Yes