T. Kowalski

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...