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Genetic and phenotypic characterization of NKX6‐2 ‐related spastic ataxia and hypomyelination
UploadGenetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study
Download from academic.oup.comL-dopa responsiveness in early Parkinson's disease is associated with the rate of motor progression
UploadBiallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Download from www.nature.comComplexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17
Download from doi.orgPDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology
UploadDNA repair in trinucleotide repeat ataxias
UploadDeveloping and validating Parkinson’s disease subtypes and their motor and cognitive progression
UploadGenomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes
UploadInsufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease
UploadGenotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
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