Spinal muscular atrophy—insights and challenges in the treatment era

E Mercuri, MC Pera, M Scoto, R Finkel… - Nature Reviews …, 2020 - nature.com
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by
deletion or mutation of SMN1. Four subtypes exist, characterized by different clinical …

Spinal muscular atrophy: from approved therapies to future therapeutic targets for personalized medicine

H Chaytow, KME Faller, YT Huang… - Cell Reports Medicine, 2021 - cell.com
Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the
most severe cases and when left untreated, leads to death within the first two years of life …

Spinal muscular atrophy

S Nicolau, MA Waldrop, AM Connolly… - Seminars in pediatric …, 2021 - Elsevier
Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood
and has high morbidity and mortality. Three different disease-modifying treatments were …

Drug treatment for spinal muscular atrophy types II and III

RI Wadman, WL van der Pol… - Cochrane Database …, 2020 - cochranelibrary.com
Background Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the
survival motor neuron 1 (SMN1) gene on chromosome 5, or a heterozygous deletion in …

Progress in spinal muscular atrophy research

C Wurster, S Petri - Current Opinion in Neurology, 2022 - journals.lww.com
Progress in spinal muscular atrophy research : Current Opinion in Neurology Progress in spinal
muscular atrophy research : Current Opinion in Neurology Log in or Register Subscribe to …

Drug screening and drug repositioning as promising therapeutic approaches for spinal muscular atrophy treatment

G Menduti, DM Rasà, S Stanga, M Boido - Frontiers in pharmacology, 2020 - frontiersin.org
Spinal muscular atrophy (SMA) is the most common genetic disease affecting infants and
young adults. Due to mutation/deletion of the survival motor neuron (SMN) gene, SMA is …

Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen

M Gómez‐García de la Banda, A Amaddeo… - Pediatric …, 2021 - Wiley Online Library
Introduction Nusinersen is associated with an improvement in motor function in children with
spinal muscular atrophy (SMA) but data on respiratory muscles strength are scarce …

Development of a highly sensitive time-resolved fluoroimmunoassay for the determination of trace salbutamol in environmental samples

S Fang, Y Zhang, X Liu, J Qiu, Z Liu, F Kong - Science of The Total …, 2019 - Elsevier
Veterinary drug residues have become a major source of environmental pollutants. To
monitor trace salbutamol (SAL) in the environment, a highly sensitive and reliable time …

Respiratory considerations in patients with neuromuscular disorders

N Patel, IM Howard, A Baydur - Muscle & Nerve, 2023 - Wiley Online Library
Patients with neuromuscular disorders (NMDs) develop respiratory impairment as muscles
weaken. Ensuing complications include reductions in lung volume, compliance, and cough …

Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy

V Dobelmann, A Roos, A Hentschel, A Della Marina… - Journal of …, 2024 - Springer
Background and purpose Spinal muscular atrophy (SMA) as the second most common
neurodegenerative disorder in childhood is characterized by the deficiency of survival of …