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

Author

de Albuquerque, Ana Letícia Amorim, Chadanowicz, Júlia Kersting, Bevilacqua, Isabela Possebon, Staub, Ana Lucia Portella, Winckler, Pablo Brea, da Silva, Patricia Zambone, Fagondes, Simone Chaves, Ferrari, Renata Salatti, Trojahn, Claudia Denise de Oliveira, Sacharuk, Viviane Zechlinski, Kowalski, Thayne Woycinck, Donis, Karina Carvalho, Becker, Michele Michelin, and Saute, Jonas Alex Morales

Abstract

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 reporting a real-world experience in Southern Brazil.

Published
2025
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