Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Fatemeh GhorbaniEddy N de BoerMarloes Benjamins-StokCorien C Verschuuren-BemelmansJurjen KnapperJelkje de Boer-BergsmaJeroen J de VriesBirgit Sikkema-RaddatzDineke S VerbeekHelga Westers Cleo C van Diemen

Published in: Neurology. Genetics (2023)

, to improve the genetic diagnostics for patients.

Keyphrases

copy number
genome wide
mitochondrial dna
end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
dna methylation
early onset
peritoneal dialysis
gene expression
patient reported outcomes
patient reported