Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen+47 more
wiley +1 more source
A Japanese LDA model for automatic clustering analysis of semantic verbal fluency tests. [PDF]
Yoshihara M, Itaguchi Y.
europepmc +1 more source
ABSTRACT Introduction The kappa‐free light chain (κ‐FLC) index is known to be highly sensitive and specific for diagnosing multiple sclerosis (MS), while little is understood about lambda (λ)‐FLC. This study assessed the κ‐FLC and λ‐FLC indices in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.
Michael Levraut+11 more
wiley +1 more source
GAUDI: interpretable multi-omics integration with UMAP embeddings and density-based clustering. [PDF]
Castellano-Escuder P+3 more
europepmc +1 more source
Stage‐Dependent Inhibitory Connectivity in Striatal‐Motor Circuit in Huntington's Disease
ABSTRACT Background Elucidating dysfunctional connectivity patterns among key brain regions in Huntington's disease (HD) underlying progression may have implications for developing treatment and therapeutic evaluation. Objective Explore the relationship between abnormal spontaneous resting‐state activity and atrophy in HD‐specific brain regions and ...
Yinghua Jing+4 more
wiley +1 more source
Predicting diabetic peripheral neuropathy through advanced plantar pressure analysis: a machine learning approach. [PDF]
Sheikh MM+3 more
europepmc +1 more source
Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank
ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova+5 more
wiley +1 more source
Enhanced intensity-based clustering of isomorphous multi-crystal data sets in the presence of subtle variations. [PDF]
Thompson AJ+9 more
europepmc +1 more source
ABSTRACT Objective To compare the effectiveness of high‐efficacy treatments (HET) and low‐efficacy treatments (LET) in NMOSD patients with anti‐aquaporin‐4 antibodies (AQP4‐ab). Methods In this multi‐center study, we analyzed 183 AQP4‐ab seropositive NMOSD patients who received immunosuppressive treatments (IST).
Xiang Li+10 more
wiley +1 more source
Bayesian optimized parameter selection for density-based clustering applied to single molecule localization microscopy. [PDF]
Hammer JL, Devanny AJ, Kaufman LJ.
europepmc +1 more source