A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large brazilian pedigree - Mitne-Neto, Miguel; Kok, Fernando; Beetz, Christian; Pessoa, André; Bueno, Clarissa; Graciani, Zodja; Martyn, Marcilia; Monteiro, Carlos Bandeira de Mello; Mitne, Guilherme; Hubert, Paulo; Nygren, Anders O. H; Valadares, Marcos; et al. (European Journal of Human Genetics, 2007)