Emilia Maria Severin

BDNF Val66Met (rs6265) in Ankylosing Spondylitis: A Descriptive Genotype–Phenotype Study in a Romanian Cohort

Background: Ankylosing spondylitis (AS) is a chronic inflammatory disease with musculoskeletal and extra-articular manifestations and associated cardiometabolic comorbidity. Brain-derived neurotrophic factor (BDNF) is involved in pain processing, neuroplasticity, inflammatory sig...

Clinical Phenotypic Spectrum and Multisystem Burden in Neurofibromatosis Type 1: A Retrospective Regional Cohort Study

Background: Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder characterized by marked phenotypic heterogeneity. This study aimed to describe the clinical spectrum and multisystem burden of NF1 in a regional retrospective cohort. Methods: We retrospectively analyzed...