Associated Papers
Spinocerebellar ataxia subtype 40: Report of a case and review of literature.
Kale GB et al.
Parkinsonism & Related Disorders, 2024
Novel mutation for SCA40 with initial presentation as retinitis pigmentosa.
Perković R et al.
Acta Neurologica Belgica, 2023
Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.
Boros FA et al.
International Journal of Molecular Sciences, 2023
A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia.
Chai S et al.
Human Heredity, 2023
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
Marguet F et al.
Acta Neuropathologica Communications, 2021
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.
Yahia A et al.
Bmc Neurology, 2021
Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene.
Leńska-Mieciek M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
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