@article{smith2012-22608501,
  author  = {Smith, K. R. and Damiano, J. and Franceschetti, S. and Carpenter, S. and Canafoglia, L. and Morbin, M. and Rossi, G. and Pareyson, D. and others},
  title   = {{Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage}},
  journal = {American journal of human genetics},
  year    = {2012},
  doi     = {10.1016/j.ajhg.2012.04.021},
  pmid    = {22608501},
  url     = {https://doi.org/10.1016/j.ajhg.2012.04.021}
}