|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
SMN deficiency causes neurodegenerative disease spinal muscular atrophy (SMA).
|
31799625 |
2020 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
<b>Aims:</b> To estimate healthcare resource utilization (HRU) and costs among patients with spinal muscular atrophy (SMA) type 1 (SMA1) in real-world practice, overall and among patients treated with nusinersen.
|
31322019 |
2020 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this review, we describe how structural elements formed by both local and long-distance interactions are being exploited to modulate SMN2 exon 7 splicing as a potential therapy for SMA.
|
31323435 |
2020 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
ZPR1 overexpression in vivo results in a systemic increase of SMN levels and rescues severe to moderate disease in SMA mice.
|
31828288 |
2020 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
This is an orthologue of the stasimon/tmem41b gene, a downstream target of SMN, the depleted protein in spinal muscular atrophy (SMA), which partially recapitulates the SMA phenotype in fly and zebrafish models when mutated.
|
31797327 |
2020 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We report here the finding of abnormal Golgi apparatus morphology in motor neuron like cells depleted of SMN as well as Golgi apparatus morphology in SMA patient fibroblasts.
|
30408476 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The primary objective of the present study was to evaluate the applicability of the dosage of SMN gene produts in blood, as biomarker for SMA, and the safety of oral salbutamol, a beta2-adrenergic agonist modulating <i>SMN2</i> levels.
|
30593463 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Primary hits were further evaluated for their ability to correct the splicing defect and resultant increase of SMN activity in SMA patient-derived fibroblasts.
|
31563042 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent-ventilation by 13.6 months.
|
30548438 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Lentiviral-mediated transgenic expression of SMN where the dilysine domain in exon 2b was mutated was not able to rescue the SMA phenotype despite robust expression of the mutant SMN protein in brain, muscle and spinal cord.
|
31060774 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In two trials, oral administration of RG7800 increased in blood full-length SMN2 mRNA expression in healthy adults and SMN protein levels in SMA patients by up to two-fold, which is expected to provide clinical benefit.
|
30553700 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> 5q spinal muscular atrophy (SMA) is an autosomal recessive lower motoneuron disease caused by deletion or mutations in the survival motor neuron 1 gene (<i>SMN1</i>) which results in reduced expression of full-length SMN protein.
|
31736847 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Splicing modifiers promoting SMN2 exon 7 inclusion have the potential to treat spinal muscular atrophy, the leading genetic cause of infantile death.
|
31636429 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study characterizes motor function responses after early dosing of AVXS-101 (onasemnogene abeparvovec) in gene replacement therapy in infants with severe spinal muscular atrophy type 1 (SMA1).
|
31277975 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
This sample set can be used in the association analysis of candidate genes outside of SMN2 that modify the SMA phenotype.
|
30788592 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The main effects of group, time-phase, and test condition on the ERD areas (%) were significant for the three brain areas, except the main effect of group in the SMA (Cz) and CH (C4) brain area.
|
31824406 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We investigated the expression of myelin basic protein (MBP) and NG2, which are OL lineage markers, using SMNΔ7 mice (mSmn, SMN2, SMNΔ7) and cell cultures derived from induced pluripotent stem cells generated from SMA patients.
|
30724851 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
An English-language literature search of PubMed and MEDLINE (1946 to June 2018) was performed using the terms nusinersen, ISIS-SMN (Rx), and spinal muscular atrophy.
|
30008228 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In this study, a novel compound was identified that increased SMN protein levels in vivo and ameliorated the disease phenotype in severe and intermediate mouse models of SMA.
|
30733501 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated the disease modifying potential of reduced EphA4 protein levels in the SMNΔ7 mouse model for severe SMA.
|
31803009 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The disease severity of SMA is strongly influenced by the copy number of the closely related SMN2 gene.
|
31339938 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The SMN2 gene plays an important role in MN disorders, as it can somewhat compensate for the lack of SMN1 expression in SMA patients.
|
30535775 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Risdiplam (RG7916, RO7034067) is an orally administered, centrally and peripherally distributed, survival of motor neuron 2 (SMN2) mRNA splicing modifier for the treatment of spinal muscular atrophy (SMA).
|
30302786 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy is a rare neuromuscular disorder with a spectrum of severity related to age at onset and the number of SMN2 gene copies.
|
30714083 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
After positive results with phase 1 treatment with AAV9-SMN, the first gene therapy for SMA, a phase 3 clinical trial is ongoing.
|
30805745 |
2019 |