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
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
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.
Raslan IR et al.
Neurology. Genetics, 2024
Expanding the Landscape of Spinocerebellar Ataxia Type 5.
Benevides ML et al.
Neuropediatrics, 2022
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas Q et al.
Journal of Medical Genetics, 2022
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F et al.
Frontiers in Genetics, 2022
35401678 (PubMed )
Supplement: DataSheet1.PDF
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
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F et al.
Brain Sciences, 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
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 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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