Refreshing results…
Implication of folate deficiency in CYP2U1 loss of function
UploadNGS in Hereditary Ataxia: When Rare Becomes Frequent
Download from doi.orgLearning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission
UploadFunctional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology
Download from doi.orgSpinocerebellar ataxia type 48: last but not least
Download from link.springer.comThe “crab sign”: an imaging feature of spinocerebellar ataxia type 48
Download from link.springer.comLoss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
Download from doi.orgMissing publications? Search for publications with a matching author name.