article_metadata: Charalampos Tzoulis Stefan Johansson Bjørn Ivar Haukanes Helge Boman Per Morten Knappskog Laurence A Bindoff
article_metadata: 10.1371/journal.pone.0066145
article_metadata: PLoS One
article_metadata: 2013 Jun 13;8(6):e66145.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/23785480/
article_metadata: Genes, Recessive Heat-Shock Proteins / genetics Muscle Spasticity / genetics Mutation Spinocerebellar Ataxias / congenital
article_metadata: Genes, Recessive Heat-Shock Proteins / genetics Muscle Spasticity / genetics Mutation Spinocerebellar Ataxias / congenital Case Reports Research Support, Non-U.S. Gov't Aged Amino Acid Sequence Brain / pathology Exome Family Female Heterozygote High-Throughput Nucleotide Sequencing Humans Magnetic Resonance Imaging Male Middle Aged Molecular Sequence Data Muscle Spasticity / diagnosis Norway Sequence Alignment Spinocerebellar Ataxias / diagnosis Spinocerebellar Ataxias / genetics Heat-Shock Proteins SACS protein, human Spastic ataxia Charlevoix-Saguenay type
article_metadata: PMC3681964
article_metadata: 23785480
article_metadata: Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay
article_metadata: 2013