Henry Houlden
ORCID: 0000-0002-2866-7777
· 4 papers in corpus
2025
BackgroundLeucine-rich repeat kinase 2 (LRRK2) p.L1795F variant was proposed as a genetic risk factor for Parkinson's disease (PD). However, its prevalence, phenotype, and origin remain unknown.ObjectiveThe aim was to evaluate the frequency…
2025
Diagnosing α-synucleinopathies and assessing target engagement in trials is hindered by the lack of reliable biomarkers. Here, we introduce a first-in-kind quantitative, highly sensitive, and disease-specific diagnostic assay, named Seeding…
meta-analysis
2023
Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genom…
2020
ObjectiveTo identify the genetic cause of complex neuropathy in two siblings from a consanguineous family.MethodsThe patients were recruited from our clinic. Muscle biopsy and whole-exome sequencing (WES) were performed. Fibroblasts cell li…