Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

78 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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: barbot c. 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
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. Arch Neurol. 2001 Feb;58(2):201-5. doi: 10.1001/archneur.58.2.201. Arch Neurol. 2001. PMID: 11176957
Neurodegeneration associated with genetic defects in phospholipase A(2).
Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ. Gregory A, et al. Among authors: barbot c. Neurology. 2008 Oct 28;71(18):1402-9. doi: 10.1212/01.wnl.0000327094.67726.28. Epub 2008 Sep 17. Neurology. 2008. PMID: 18799783 Free PMC article.
[Galactosemia: the genotype and phenotype of seven patients].
Martins E, Teixeira J, Cardoso ML, Lima MR, Briones-Godino P, Barbot C. Martins E, et al. Among authors: barbot c. Rev Neurol. 2004 Jun 16-30;38(12):1132-5. Rev Neurol. 2004. PMID: 15229825 Free article. Spanish.
[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: barbot c. 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.
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: barbot c. Neurology. 2007 Apr 10;68(15):1183-7. doi: 10.1212/01.wnl.0000259086.34769.78. Neurology. 2007. PMID: 17420401
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: barbot c. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coelho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins ML, Moreno T, Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E. Oliveira J, et al. Among authors: barbot c. Clin Genet. 2008 Dec;74(6):502-12. doi: 10.1111/j.1399-0004.2008.01068.x. Epub 2008 Jun 11. Clin Genet. 2008. PMID: 18700894
78 results