Evaluating effects of risdiplam in adults with spinal muscular atrophy: a monocentric study
Year: 2025
Type: article
Abstract: Extract Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disorder caused by reduced survival motor neuron (SMN) protein due to mutations in the SMN1 gene [1]. In humans, this protein is also produced by a “backup” gene, SMN2. Two drugs, nusinersen and risdiplam, are available, which lead to the production of more full-length, functional SMN protein from the SMN2 gene [2].
Source: ERJ Open Research
Authors: Grazia Crescimanno, Paolo Alonge, Antonino Lupica, Vito Tomasello, Vincenzo Di Stefano, Filippo Brighina, Oreste Marrone
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $808
OpenAlex ID: W4416058878