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Role of circulating biomarkers in spinal muscular atrophy: insights from a new treatment era

Spinal muscular atrophy (SMA) is a lower motor neuron disease due to biallelic mutations in the SMN1 gene on chromosome 5. It is characterized by progressive muscle weakness of limbs, bulbar and respiratory muscles. The disease is usually classified in four different phenotypes (1–4) according to ag...

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Detalles Bibliográficos
Autores principales: Giorgia, Querin, Gomez Garcia de la Banda, Marta, Smeriglio, Piera
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10679720/
https://www.ncbi.nlm.nih.gov/pubmed/38020652
http://dx.doi.org/10.3389/fneur.2023.1226969