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Mendeley readers
| Title |
Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report
|
|---|---|
| Published in |
BMC Medical Genomics, July 2013
|
| DOI | 10.1186/1471-2350-14-70 |
| Pubmed ID | |
| Authors |
Mariana Moscovich, Mark S LeDoux, Jianfeng Xiao, Garrett L Rampon, Satya R Vemula, Ramon L Rodriguez, Kelly D Foote, Michael S Okun |
| Abstract |
Dystonia is a movement disorder characterized by involuntary sustained muscle contractions causing twisting and repetitive movements or abnormal postures. Some cases of primary and neurodegenerative dystonia have been associated with mutations in individual genes critical to the G1-S checkpoint pathway (THAP1, ATM, CIZ1 and TAF1). Secondary dystonia is also a relatively common clinical sign in many neurogenetic disorders. However, the contribution of structural variation in the genome to the etiopathogenesis of dystonia remains largely unexplored. |
Mendeley readers
The data shown below were compiled from readership statistics for 81 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 1% |
| India | 1 | 1% |
| Italy | 1 | 1% |
| Unknown | 78 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 12 | 15% |
| Researcher | 11 | 14% |
| Student > Ph. D. Student | 10 | 12% |
| Student > Bachelor | 10 | 12% |
| Student > Doctoral Student | 6 | 7% |
| Other | 16 | 20% |
| Unknown | 16 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 21 | 26% |
| Biochemistry, Genetics and Molecular Biology | 13 | 16% |
| Agricultural and Biological Sciences | 11 | 14% |
| Unspecified | 4 | 5% |
| Nursing and Health Professions | 4 | 5% |
| Other | 9 | 11% |
| Unknown | 19 | 23% |