Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil

Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil

Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. This study addresses the scarcity of research on novel disease-modifying therapies for SMA in Latin America by repor...

Full description

Saved in:
Bibliographic Details
Main Authors: Ana Letícia Amorim de Albuquerque, Júlia Kersting Chadanowicz, Isabela Possebon Bevilacqua, Ana Lucia Portella Staub, Pablo Brea Winckler, Patricia Zambone da Silva, Simone Chaves Fagondes, Renata Salatti Ferrari, Claudia Denise de Oliveira Trojahn, Viviane Zechlinski Sacharuk, Thayne Woycinck Kowalski, Karina Carvalho Donis, Michele Michelin Becker, Jonas Alex Morales Saute
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Jornal de Pediatria
Subjects:
Spinal muscular atrophy
Nusinersen
Onasemnogene abeparvovec
Risdiplam
Southern Brazil
Online Access:http://www.sciencedirect.com/science/article/pii/S0021755724001268
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

http://www.sciencedirect.com/science/article/pii/S0021755724001268

Similar Items