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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: barbot c. Clin Genet. 2021 Jul;100(1):79-83. doi: 10.1111/cge.13954. Epub 2021 Apr 22. Clin Genet. 2021. PMID: 33682124
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R. Bras J, et al. Among authors: barbot c. Am J Hum Genet. 2015 Mar 5;96(3):474-9. doi: 10.1016/j.ajhg.2015.01.005. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728773 Free PMC article.
Childhood-Onset Writer's Cramp in Hereditary Spastic Paraplegia Type 15.
Moura J, Sardoeira A, Oliveira J, Mendes A, Barros J, Sequeiros J, Barbot C, Damásio J. Moura J, et al. Among authors: barbot c. Can J Neurol Sci. 2023 May;50(3):469-471. doi: 10.1017/cjn.2022.59. Epub 2022 May 11. Can J Neurol Sci. 2023. PMID: 35538608 No abstract available.
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: barbot c. Mov Disord. 2008 Jul 30;23(10):1384-90. doi: 10.1002/mds.22115. Mov Disord. 2008. PMID: 18512755
81 results