Author

Juliana Silva de Almeida Magalhães

2 papers indexed here

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Oct 2026

Clinical profile of patients with spinal muscular atrophy at a neuromuscular disease reference center

Background: Spinal Muscular Atrophy (SMA) is a rare genetic neuromuscular disease characterized by the degeneration of motor neurons in the spinal cord, leading to progressive proximal muscle weakness and atrophy. The disease presents a wide clinical spectrum with five phenotypes, with type 1 being the most severe and...

Camilla Rocha Medeiros Pinho, Gabriel Negreiros de Camargo Martins Moreira, Cléo Alcântara Fernandes Silva et al. · ANPAbstract_CBN26 · 0 citations

Open access Sep 2026

Unbiased bioinformatic and clinical analysis identifies glial fibrillary acidic protein as a potential biomarker in spinal muscular atrophy

Abstract Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by bi-allelic pathogenic variants in SMN1, leading to motor neuron degeneration, muscle atrophy and progressive weakness. Although disease-modifying therapies have recently become available, reliable biomarkers for disease monitoring remai...

Karina Lúcia Soares de Oliveira, Arthur Carpeggiani Weber, M. M. Becker et al. · Brain Communications · 0 citations