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Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

D. Evans, T. Strachan, A. Wallace, 1998, Journal of medical genetics.

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

Spain, S. O’Rahilly, M. Dattani, 2007, The New England journal of medicine.

The Neurofibromatosis Type 1 Gene and Its Protein Product , Neurofibromin Review

David, H. Gutmann, Francis, 2003 .

Progressive supranuclear palsy: neuropathologically based diagnostic clinical criteria.

D. Maraganore, J. Parisi, J. Ahlskog, 1995, Journal of neurology, neurosurgery, and psychiatry.