| Title |
Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
|
|---|---|
| Published in |
PLOS ONE, April 2012
|
| DOI | 10.1371/journal.pone.0035462 |
| Pubmed ID | |
| Authors |
Richard S. Finkel, Thomas O. Crawford, Kathryn J. Swoboda, Petra Kaufmann, Peter Juhasz, Xiaohong Li, Yu Guo, Rebecca H. Li, Felicia Trachtenberg, Suzanne J. Forrest, Dione T. Kobayashi, Karen S. Chen, Cynthia L. Joyce, Thomas Plasterer |
| Abstract |
Spinal Muscular Atrophy (SMA) is a neurodegenerative motor neuron disorder resulting from a homozygous mutation of the survival of motor neuron 1 (SMN1) gene. The gene product, SMN protein, functions in RNA biosynthesis in all tissues. In humans, a nearly identical gene, SMN2, rescues an otherwise lethal phenotype by producing a small amount of full-length SMN protein. SMN2 copy number inversely correlates with disease severity. Identifying other novel biomarkers could inform clinical trial design and identify novel therapeutic targets. |
Mendeley readers
The data shown below were compiled from readership statistics for 124 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | <1% |
| Spain | 1 | <1% |
| Germany | 1 | <1% |
| Canada | 1 | <1% |
| Unknown | 120 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 22 | 18% |
| Researcher | 20 | 16% |
| Student > Master | 15 | 12% |
| Other | 12 | 10% |
| Student > Bachelor | 10 | 8% |
| Other | 16 | 13% |
| Unknown | 29 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 20 | 16% |
| Agricultural and Biological Sciences | 20 | 16% |
| Medicine and Dentistry | 19 | 15% |
| Nursing and Health Professions | 8 | 6% |
| Neuroscience | 7 | 6% |
| Other | 17 | 14% |
| Unknown | 33 | 27% |