Associated Papers
Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrin.
Denha SA et al.
The Journal of Biological Chemistry, 2025
Expanding the Landscape of Spinocerebellar Ataxia Type 5.
Benevides ML et al.
Neuropediatrics, 2022
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
Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.
Romaniello R et al.
Annals of Clinical and Translational Neurology, 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
Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
Rea G et al.
Cerebellum (london, England), 2020
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
Nicita F et al.
Clinical Genetics, 2019
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