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PDF] Recessive Mutations in SPTBN2 Implicate β-III Spectrin in
Heterozygous Missense Pathogenic Variants Within the Second
Age-dependent ataxia and neurodegeneration caused by an αII
Cerebellar ataxias: β‐III spectrin's interactions suggest common
Frontiers Aberrant Cerebellar Circuitry in the Spinocerebellar
βIII Spectrin Is Necessary for Formation of the Constricted Neck
Ankyrin R recruited to membrane by β-III spectrin. (A) Sagittal
Evidence of cerebellar degeneration and gliosis. We used
Spectrin mutations cause spinocerebellar ataxia type 5
Spinocerebellar ataxia Nature Reviews Disease Primers
Mutant β-III Spectrin Causes mGluR1α Mislocalization and
Impact of Reduced Cerebellar EAAT Expression on Purkinje Cell
A human β-III-spectrin spinocerebellar ataxia type 5 mutation
Signs of glutamate-mediated excitotoxicity in β-III −/− Purkinje