Daoud H, Papadima EM, Ouled Amar Bencheikh B, Katsila T, Dionne-Laporte A, Spiegelman D, Dion PA, Patrinos GP, Orrù S, Rouleau GA. Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia. European Journal of Medical Genetics. 2015 Nov;58(11):573–7. doi: 10.1016/j.ejmg.2015.08.001.
Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia