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[Sturge-Weber syndrome -clinical and neuroimaging variability].
Rios M, Barbot C, Pinto PS, Salício L, Santos M, Carrilho I, Temudo T. Rios M, et al. Among authors: carrilho i. An Pediatr (Barc). 2012 Dec;77(6):397-402. doi: 10.1016/j.anpedi.2012.03.004. Epub 2012 Jun 27. An Pediatr (Barc). 2012. PMID: 22743619 Free article. Spanish.
Infantile neuroaxonal dystrophy: what's most important for the diagnosis?
Carrilho I, Santos M, Guimarães A, Teixeira J, Chorão R, Martins M, Dias C, Gregory A, Westaway S, Nguyen T, Hayflick S, Barbot C. Carrilho I, et al. Eur J Paediatr Neurol. 2008 Nov;12(6):491-500. doi: 10.1016/j.ejpn.2008.01.005. Epub 2008 Mar 21. Eur J Paediatr Neurol. 2008. PMID: 18359254
Congenital ataxia due to novel variant in ATP8A2.
Damásio J, Santos D, Morais S, Brás J, Guerreiro R, Sardoeira A, Cavaco S, Carrilho I, Barbot C, Barros J, Sequeiros J. Damásio J, et al. Among authors: carrilho i. Clin Genet. 2021 Jul;100(1):79-83. doi: 10.1111/cge.13954. Epub 2021 Apr 22. Clin Genet. 2021. PMID: 33682124
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: carrilho i. Neurology. 2007 Apr 10;68(15):1183-7. doi: 10.1212/01.wnl.0000259086.34769.78. Neurology. 2007. PMID: 17420401
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: carrilho i. Mov Disord. 2008 Jul 30;23(10):1384-90. doi: 10.1002/mds.22115. Mov Disord. 2008. PMID: 18512755
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: carrilho i. 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.
29 results