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Page 1
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: fineza i. 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: fineza i. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148
Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.
Caetano JS, Costa C, Baets J, Zimon Phd M, Venâncio Phd M, Saraiva Phd J, Negrão L, Fineza I. Caetano JS, et al. Among authors: fineza i. Pediatr Neurol. 2014 Jan;50(1):104-7. doi: 10.1016/j.pediatrneurol.2013.08.028. Epub 2013 Oct 13. Pediatr Neurol. 2014. PMID: 24131582
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: fineza i. 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
Screening for Pompe disease in a Portuguese high risk population.
Almeida V, Conceição I, Fineza I, Coelho T, Silveira F, Santos M, Valverde A, Geraldo A, Maré R, Aguiar TC, Mendonça C, Martins J, Medeiros L, Barroso C, Vieira JP, Moreno T, Negrão L, Dias MS, Lacerda L, Evangelista T. Almeida V, et al. Among authors: fineza i. Neuromuscul Disord. 2017 Aug;27(8):777-781. doi: 10.1016/j.nmd.2017.03.010. Epub 2017 Mar 29. Neuromuscul Disord. 2017. PMID: 28554557
[Cerebral creatine deficiency syndromes].
Malheiro R, Diogo L, Garcia P, Fineza I, Oliveira G. Malheiro R, et al. Among authors: fineza i. Acta Med Port. 2012 Nov-Dec;25(6):389-98. Epub 2013 Jan 28. Acta Med Port. 2012. PMID: 23534590 Free article. Portuguese.
25 results