Associated Papers
Spinocerebellar ataxias (SCAs) caused by common mutations.
Müller U
Neurogenetics, 2021
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
Accogli A et al.
Journal of Child Neurology, 2020
A human β-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding.
Avery AW et al.
Scientific Reports, 2016
Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.
Armbrust KR et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014
Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.
Forman OP et al.
Bmc Genetics, 2012
Spectrin mutations cause spinocerebellar ataxia type 5.
Ikeda Y et al.
Nature Genetics, 2006
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