Chenxin Ying
YOU?
Author Swipe
View article: Novel Phenotypes and Deep Intronic Variant Expand <scp>TH</scp>‐Associated Dopa‐Responsive Dystonia Spectrum
Novel Phenotypes and Deep Intronic Variant Expand <span>TH</span>‐Associated Dopa‐Responsive Dystonia Spectrum Open
Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirme…
View article: Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson’s disease
Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson’s disease Open
View article: Neurofilament light chain as a mediator between LRRK2 mutation and dementia in Parkinson’s disease
Neurofilament light chain as a mediator between LRRK2 mutation and dementia in Parkinson’s disease Open
Elevated neurofilament light chain (NfL) levels have been associated with dementia in idiopathic Parkinson’s disease (iPD). To examine the baseline and longitudinal changes in NfL levels in GBA -PD, SNCA -PD, and LRRK2 -PD and further inve…