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Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium. Stevanin G, et al. Among authors: cruz vt. Brain. 2008 Mar;131(Pt 3):772-84. doi: 10.1093/brain/awm293. Epub 2007 Dec 13. Brain. 2008. PMID: 18079167
Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.
Loureiro JL, Miller-Fleming L, Thieleke-Matos C, Magalhães P, Cruz VT, Coutinho P, Sequeiros J, Silveira I. Loureiro JL, et al. Among authors: cruz vt. Acta Neurol Scand. 2009 Feb;119(2):113-8. doi: 10.1111/j.1600-0404.2008.01074.x. Epub 2008 Jul 29. Acta Neurol Scand. 2009. PMID: 18664244
Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.
Baptista MV, Ferreira S, Pinho-E-Melo T, Carvalho M, Cruz VT, Carmona C, Silva FA, Tuna A, Rodrigues M, Ferreira C, Pinto AA, Leitão A, Gabriel JP, Calado S, Oliveira JP, Ferro JM; PORTuguese Young STROKE Investigators. Baptista MV, et al. Among authors: cruz vt. Stroke. 2010 Mar;41(3):431-6. doi: 10.1161/STROKEAHA.109.570499. Epub 2010 Jan 28. Stroke. 2010. PMID: 20110537 Clinical Trial.
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