Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy
Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes
characterized by the gradual weakening and deterioration of muscles, often leading to …
characterized by the gradual weakening and deterioration of muscles, often leading to …
Evaluation of risdiplam efficacy in 5q spinal muscular atrophy: a systematic comparison of electrophysiologic with clinical outcome measures
Background To assess compound muscle action potential (CMAP) amplitudes as
electrophysiologic markers in relation to clinical outcome in adult patients with 5q‐linked …
electrophysiologic markers in relation to clinical outcome in adult patients with 5q‐linked …
Efficacy and safety of onasemnogene abeparvovec for the treatment of patients with spinal muscular atrophy type 1: A systematic review with meta-analysis
BD Fernandes, BC Krug, FDA Rodrigues, HNC Cirilo… - Plos one, 2024 - journals.plos.org
Background Onasemnogene abeparvovec has been approved for the treatment of spinal
muscular atrophy 5q type 1 in several countries, which calls for an independent assessment …
muscular atrophy 5q type 1 in several countries, which calls for an independent assessment …
Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy
HS Lapp, M Freigang, J Friese, S Bernsen, V Tüngler… - Scientific reports, 2024 - nature.com
Troponin T concentration (TNT) is commonly considered a marker of myocardial damage.
However, elevated concentrations have been demonstrated in numerous neuromuscular …
However, elevated concentrations have been demonstrated in numerous neuromuscular …
Preemptive dual therapy for children at risk for infantile‐onset spinal muscular atrophy
SE Matesanz, KW Brigatti, M Young… - Annals of Clinical …, 2024 - Wiley Online Library
Objective Compare efficacy of gene therapy alone (monotherapy) or in combination with an
SMN2 augmentation agent (dual therapy) for treatment of children at risk for spinal muscular …
SMN2 augmentation agent (dual therapy) for treatment of children at risk for spinal muscular …
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study
R Günther, CD Wurster, S Brakemeier… - The Lancet Regional …, 2024 - thelancet.com
Background Evidence for the efficacy of nusinersen in adults with 5q-associated spinal
muscular atrophy (SMA) has been demonstrated up to a period of 16 months in relatively …
muscular atrophy (SMA) has been demonstrated up to a period of 16 months in relatively …
[PDF][PDF] Impact of Nusinersen on Neurofilament
Background: Spinal amyotrophy is a rare, neurodegenerative disease, with progressive
evolution, disabling until death in severe forms, but for which 3 disease-modifying drugs …
evolution, disabling until death in severe forms, but for which 3 disease-modifying drugs …
Insights into spinal muscular atrophy from molecular biomarkers
X Xing, X Liu, X Li, M Li, X Wu, X Huang, A Xu… - Neural Regeneration … - journals.lww.com
Spinal muscular atrophy is a devastating motor neuron disease characterized by severe
cases of fatal muscle weakness. It is one of the most common genetic causes of mortality …
cases of fatal muscle weakness. It is one of the most common genetic causes of mortality …