Spinal Muscular Atrophy
Top Cited Papers
- 27 October 2015
- journal article
- review article
- Published by Elsevier BV in Neurologic Clinics
- Vol. 33 (4), 831-846
- https://doi.org/10.1016/j.ncl.2015.07.004
Abstract
No abstract availableKeywords
This publication has 81 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
- Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophyNeuromuscular Disorders, 2010
- Spinal muscular atrophy: mechanisms and therapeutic strategiesHuman Molecular Genetics, 2010
- RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMNNature Biotechnology, 2010
- A Positive Modifier of Spinal Muscular Atrophy in the SMN2 GeneAmerican Journal of Human Genetics, 2009
- Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?Nature Reviews Neuroscience, 2009
- Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophyNeuromuscular Disorders, 2009
- Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophyHuman Molecular Genetics, 2009
- Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic MiceAmerican Journal of Human Genetics, 2008
- Chaperoning ribonucleoprotein biogenesis in health and diseaseEMBO Reports, 2007