Publications by authors named "Ji-Hun Yoo"
Article Synopsis
- Pathogenic variants in the UBQLN2 gene lead to unique forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) with distinct aggregate patterns in the brain.
- Although ubiquilin 2 aggregates are also observed in other cases of ALS and FTD, including those linked to different genes like C9orf72, their role in disease prediction remains uncertain.
- The study analyzed 44 ALS cases to identify differences in protein aggregation patterns between mutant and wild-type ubiquilin 2, revealing that mutant forms are more likely to aggregate independently, which may aid in assessing the disease mechanism associated with UBQLN2 variants.
Background: Atlas-based voxel features have the potential to aid motor outcome prognostication after stroke, but are seldom used in clinically feasible prediction models. This could be because neuroimaging feature development is a non-standardized, complex, multistep process. This is a barrier to entry for researchers and poses issues for reproducibility and validation in a field of research where sample sizes are typically small.
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