Associated Papers
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
40326640 (PubMed )
Supplement: MDS-40-1851-s002.docx
Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene.
Zhu CH et al.
Cerebellum (london, England), 2024
The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews.
Kessi M et al.
Frontiers in Molecular Neuroscience, 2023
37555011 (PubMed )
Supplement: Table_8.docx
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Liu F et al.
Signal Transduction and Targeted Therapy, 2021
33563892 (PubMed )
Supplement: 41392_2020_412_MOESM16_ESM.xlsx › Supplementary_Table_S15
Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.
Jaudon F et al.
Biomedicines, 2020
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
Stendel C et al.
International Journal of Molecular Sciences, 2020
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2.
Lance S et al.
Case Reports in Neurological Medicine, 2018
Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.
Pradotto L et al.
Journal of the Neurological Sciences, 2016
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
Maksemous N et al.
Molecular Genetics & Genomic Medicine, 2016
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Bürk K et al.
European Journal of Medical Genetics, 2014
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