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
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
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
Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report.
Mizuno T et al.
Brain & Development, 2019
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada A et al.
Brain & Development, 2019
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