HeliyonBackground: The drug nusinersen is applied to improve motor function in patients with spinal muscle atrophy (SMA). However, research on the effects of this treatment on lung function is lacking.
Jicai Zhu +4 more
doaj +1 more source
Are PARKIN patients ideal candidates for dopaminergic cell replacement therapies? [PDF]
, 2018 Parkinson's is a heterogeneous, complex condition. Stratification of Parkinson's subtypes will be essential to identify those that will benefit most from a cell replacement therapy.
Chan, Claire +7 more
core +3 more sources
Therapeutic Advances in Neurological Disorders, 2018 Background: Nusinersen is an intrathecally administered antisense oligonucleotide (ASO) and the first approved drug for the treatment of spinal muscular atrophy (SMA).
Benjamin Stolte +10 more
doaj +1 more source
Development and validation of an HILIC/MS/MS method for determination of nusinersen in rabbit plasma
HeliyonA hydrophilic interaction liquid chromatography tandem mass spectrometry (HILIC/MS/MS) method was developed and validated for the quantitative analysis of the fully phosphorothioate modified oligonucleotide nusinersen.
Xiao Zhang +6 more
doaj +1 more source
The dynamic of changes of pNFH levels in the CSF compared with the motor scales’ scores during three years of nusinersen treatment in children with spinal muscular atrophy types 2 and 3 [PDF]
Balneo and PRM Research JournalNeurofilaments are crucial in neuronal cytoskeleton formation, influencing axonal growth and impulse modulation. This study focuses on understanding the dynamics of the phosphorylated neurofilament heavy subunit (pNFH) in pediatric spinal muscular ...
Mihaela Badina +4 more
doaj +1 more source
Effective local treatment of necrotizing fasciitis using a chlorine solution obtained by electrolysis [PDF]
Srpski Arhiv za Celokupno LekarstvoIntroduction. Spinal muscular atrophy (SMA) and acute lymphoblastic leukemia (ALL) are rare diseases, with usual onset in childhood. To date, no cases have been reported where these conditions co-exist in one patient.
Kovačević Predrag T.
doaj +1 more source
The role of experiential knowledge within attitudes towards genetic carrier screening : a comparison of people with and without experience of spinal muscular atrophy [PDF]
, 2018 Purpose: Autosomal recessive conditions, whilst individually rare, are a significant health burden with limited treatment options. Population carrier screening has been suggested as a means of tackling them.
Boardman, Felicity K. +3 more
core
Brain and BehaviorObjective This study was based on a retrospective clinical observational cohort study of a two‐center application of nusinersen in China to evaluate the clinical efficacy and adverse effects of nusinersen in the treatment of SMA (spinal muscular atrophy)
Dan Li +5 more
doaj +1 more source
Spinal muscular atrophy and acute lymphoblastic leukemia - is it just a coincidence? [PDF]
Srpski Arhiv za Celokupno LekarstvoIntroduction. Spinal muscular atrophy (SMA) and acute lymphoblastic leukemia (ALL) are rare diseases, with usual onset in childhood. To date, no cases have been reported where these conditions co-exist in one patient.
Jovanović Kristina +4 more
doaj +1 more source
Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery [PDF]
Arquivos de Neuro-PsiquiatriaBackground: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity.
Rodrigo de Holanda Mendonça +8 more
doaj +2 more sources