Ruwei Ou

Evaluation of Rare MCOLN1 Variants in a Large Cohort of α‐Synucleinopathies

Note: Genomic position was based on GRCh37.Variants were classified according to the 2015 American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) joint consensus guidelines, with P indicating that the variant is pathogenic.Function p...

Causal relationship between metabolites, cerebral volume, and amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by motor neuron degeneration. Although metabolic abnormalities have been implicated in ALS, the causal relationships between circulating metabolites and ALS remain unclear. This study ai...