Associated Papers
Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrin.
Denha SA et al.
Biorxiv : the Preprint Server for Biology, 2024
Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in β-III-Spectrin.
Atang AE et al.
Cells, 2023
Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in β-III-spectrin.
Atang AE et al.
Biorxiv : the Preprint Server for Biology, 2023
Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5.
Bian X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
Sancho P et al.
International Journal of Molecular Sciences, 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
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Aitken S et al.
American Journal of Human Genetics, 2019
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
Al-Muhaizea MA et al.
Cerebellum (london, England), 2018
A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5.
Liu LZ et al.
Chinese Medical Journal, 2016
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