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Page 1
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. Among authors: chorao r. 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
Epilepsy with myoclonic absences: A case series.
Videira G, Raimundo R, Chorão R. Videira G, et al. Among authors: chorao r. Seizure. 2023 Mar;106:162-163. doi: 10.1016/j.seizure.2023.02.017. Epub 2023 Feb 24. Seizure. 2023. PMID: 36893512 Free article. No abstract available.
Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
Barbot C, Coutinho P, Chorão R, Ferreira C, Barros J, Fineza I, Dias K, Monteiro J, Guimarães A, Mendonça P, do Céu Moreira M, Sequeiros J. Barbot C, et al. Among authors: chorao r. Arch Neurol. 2001 Feb;58(2):201-5. doi: 10.1001/archneur.58.2.201. Arch Neurol. 2001. PMID: 11176957
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: chorao r. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148
Familial occipital lobe epilepsy associated with GABAA receptor variants.
Fonte J, Videira G, Chorão R, Freitas J, Carrilho I, Freixo JP, Oliveira J, Chaves J. Fonte J, et al. Among authors: chorao r. Seizure. 2023 Nov;112:139-142. doi: 10.1016/j.seizure.2023.10.003. Epub 2023 Oct 5. Seizure. 2023. PMID: 37852164 No abstract available.
21 results