Associated Papers
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
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
Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early-Onset Pure Spastic Paraplegia.
Caputo D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
Kim A et al.
Cerebellum (london, England), 2019
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
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
Kim J et al.
Scientific Reports, 2018
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
Ruggeri G et al.
American Journal of Medical Genetics. Part A, 2018
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.
Tsoi H et al.
Journal of Medical Genetics, 2014