| Title |
Age at Death of Creutzfeldt-Jakob Disease in Subsequent Family Generation Carrying the E200K Mutation of the Prion Protein Gene
|
|---|---|
| Published in |
PLOS ONE, April 2013
|
| DOI | 10.1371/journal.pone.0060376 |
| Pubmed ID | |
| Authors |
Maurizio Pocchiari, Anna Poleggi, Maria Puopolo, Marco D’Alessandro, Dorina Tiple, Anna Ladogana |
| Abstract |
The E200K mutation of the prion protein gene (PRNP) is the most frequent amino acid substitution in genetic Creutzfeldt-Jakob disease and is the only one responsible for the appearance of clustered cases in the world. In the Israel and Slovakian clusters, age of disease onset was reduced in successive generations but the absence of a clear molecular basis raised the possibility that this event was an observational bias. The aim of the present study was to investigate possible selection biases or confounding factors related to anticipation in E200K CJD patients belonging to a cluster in Southern Italy. |
Mendeley readers
The data shown below were compiled from readership statistics for 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 1 | 4% |
| Unknown | 25 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 7 | 27% |
| Other | 3 | 12% |
| Student > Doctoral Student | 3 | 12% |
| Lecturer | 2 | 8% |
| Researcher | 2 | 8% |
| Other | 7 | 27% |
| Unknown | 2 | 8% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 35% |
| Biochemistry, Genetics and Molecular Biology | 5 | 19% |
| Neuroscience | 5 | 19% |
| Agricultural and Biological Sciences | 3 | 12% |
| Immunology and Microbiology | 1 | 4% |
| Other | 0 | 0% |
| Unknown | 3 | 12% |