Pórszász, RóbertLe, Ngo Minh Tran2023-08-292023-08-292023-06-23https://hdl.handle.net/2437/358540Spinal muscular atrophy is an autosomal recessive inherited disease, which associate with SMN gene mutation. It presents with a wide range of symptoms from weakness, and fatigue of muscles to non-ambulatory, and death. Currently, there is no complete cure therapy. However, FDA has approved Nusinersen as a standard treatment. Additionally, with direct-to-genetic treatments, pharmacological management for spinal muscular atrophy has shown a promising future.44enspinal muscular atrophysmn1 genenusinersenzolgensmaDEENK Témalista::Orvostudomány::Farmakológia