Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
Top Cited Papers
Open Access
- 6 December 2016
- journal article
- Published by Elsevier BV in The Lancet
- Vol. 388 (10063), 3017-3026
- https://doi.org/10.1016/s0140-6736(16)31408-8
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimensEuropean Journal of Human Genetics, 2011
- Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular AtrophyScience Translational Medicine, 2011
- Compound muscle action potential and motor function in children with spinal muscular atrophyMuscle & Nerve, 2010
- Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse modelGenes & Development, 2010
- The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliabilityNeuromuscular Disorders, 2010
- Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counsellingClinical Genetics, 2009
- Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic MiceAmerican Journal of Human Genetics, 2008
- Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the ExonPLoS Biology, 2007
- Correlation between severity and SMN protein level in spinal muscular atrophyNature Genetics, 1997
- Identification and characterization of a spinal muscular atrophy-determining geneCell, 1995