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Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes F, Barbosa M, Ameur A, Soares G, de Sá J, Dias AI, Oliveira G, Cabral P, Temudo T, Calado E, Cruz IF, Vieira JP, Oliveira R, Esteves S, Sauer S, Jonasson I, Syvänen AC, Gyllensten U, Pinto D, Maciel P. Lopes F, et al. Among authors: cabral p. J Med Genet. 2016 Mar;53(3):190-9. doi: 10.1136/jmedgenet-2015-103568. Epub 2016 Jan 6. J Med Genet. 2016. PMID: 26740508 Free article.
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Cabral P, Monteiro J, Borges L, Gomes R, Mira G, Pereira SA, Santos M, Fernandes A, Epplen JT, Sequeiros J, Maciel P. Temudo T, et al. Among authors: cabral a, cabral p. Brain Dev. 2011 Jan;33(1):69-76. doi: 10.1016/j.braindev.2010.01.004. Epub 2010 Feb 8. Brain Dev. 2011. PMID: 20116947 Free article.
Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.
Temudo T, Ramos E, Dias K, Barbot C, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Fonseca M, Cabral A, Cabral P, Monteiro JP, Borges L, Gomes R, Santos M, Sequeiros J, Maciel P. Temudo T, et al. Among authors: cabral a, cabral p. Mov Disord. 2008 Jul 30;23(10):1384-90. doi: 10.1002/mds.22115. Mov Disord. 2008. PMID: 18512755
Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.
Temudo T, Oliveira P, Santos M, Dias K, Vieira J, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Dias A, Cabral P, Monteiro J, Borges L, Gomes R, Barbosa C, Mira G, Eusébio F, Santos M, Sequeiros J, Maciel P. Temudo T, et al. Among authors: cabral a, cabral p. Neurology. 2007 Apr 10;68(15):1183-7. doi: 10.1212/01.wnl.0000259086.34769.78. Neurology. 2007. PMID: 17420401
[Acute infantile bilateral striatal necrosis].
Torre Mde L, Calado E, Macedo A, Ventura L, Cabral P. Torre Mde L, et al. Among authors: cabral p. Acta Med Port. 1997 Feb-Mar;10(2-3):205-7. Acta Med Port. 1997. PMID: 9235852 Free article. Review. Portuguese.
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.
Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC. Gaspar IM, et al. Among authors: cabral p. Am J Med Genet A. 2008 Jul 1;146A(13):1748-53. doi: 10.1002/ajmg.a.32325. Am J Med Genet A. 2008. PMID: 18546280 Free article. Review.
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Vilarinho L, et al. Among authors: cabral fernandes h, cabral p. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148
221 results