Neurofilament proteins have been validated as specific body fluid biomarkers of neuro-
axonal injury. The advent of highly sensitive analytical platforms that enable reliable …

Abstract 5q-associated spinal muscular atrophy (SMA) is a rare genetic disease caused by
mutations in the SMN1 gene, resulting in a loss of functional SMN protein and consecutive …

Neurofilament proteins (Nf) have been validated and established as a reliable body fluid
biomarker for neurodegenerative pathology. This review covers seven Nf isoforms, Nf light …

Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the
SMN1 gene resulting in reduced levels of the SMN protein. Nusinersen, the first antisense …

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 …

Background: Spinal muscular atrophy (SMA) is caused by bi-allelic, recessive mutations of
the survival motor neuron 1 (SMN1) gene and reduced expression levels of the survival …

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by recessive
pathogenic variants affecting the survival of motor neuron (SMN1) gene (localized on 5q). In …

The objective of this study is to evaluate biomarkers for neurodegenerative disorders in adult
SMA patients and their potential for monitoring the response to nusinersen. Biomarkers for …

Abstract Background and Purpose The aim was to investigate whether neurofilament light
chain (NfL) and profilin‐1 (PFN‐1) might qualify as surrogate disease and treatment …

Introduction Biomarkers capable of reflecting disease onset and short-and long-term
therapeutic effects in individuals with spinal muscular atrophy (SMA) are still an unmet need …