Results 211 to 220 of about 563,418 (353)
Movement Disorders, EarlyView.Abstract Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs (INAS) is a symptom list transformable to a 16‐item count.
Stella Andrea Lischewski +23 more
wiley +1 more source
Response to "Toward Audit-Ready Standards for Synthetic Cohorts in Health Decision Science". [PDF]
Health Data SciFerreira G +3 more
europepmc +1 more source
Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants
Movement Disorders, EarlyView.Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger +39 more
wiley +1 more source
Correction for: ApoB100 remodeling and stiffened cholesteryl ester core raise LDL aggregation in familial hypercholesterolemia patients [Journal of Lipid Research 66/1 (2025) 100703]. [PDF]
J Lipid ResLa Chica Lhoëst MT +12 more
europepmc +1 more source
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients
Movement Disorders, EarlyView.Abstract Background Parkinsonism may be observed in multiple neurodegenerative diseases, including GRN‐associated frontotemporal dementia (FTD‐GRN), complicating the differential diagnosis of Parkinson's disease (PD). Objectives To investigate the presence of GRN variants in a large group of PD patients.
Christian A. Ganoza +31 more
wiley +1 more source