Fineza I - Search Results

1

[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.

2

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Oliveira R, Pereira C, Rodrigues F, Alfaite C, Garcia P, Robalo C, Fineza I, Gonçalves O, Struys E, Salomons G, Jakobs C, Diogo L. Oliveira R, et al. Among authors: fineza i. Epileptic Disord. 2013 Dec;15(4):400-6. doi: 10.1684/epd.2013.0610. Epileptic Disord. 2013. PMID: 24184718 Free article.

3

Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.

Diogo L, Cordeiro M, Garcia P, Fineza I, Moura C, Oliveira CR, Veiga M, Garcia T, Grazina M. Diogo L, et al. Among authors: fineza i. Pediatr Neurol. 2010 Mar;42(3):196-200. doi: 10.1016/j.pediatrneurol.2009.09.010. Pediatr Neurol. 2010. PMID: 20159429

4

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

Oliveira J, Soares-Silva I, Fokkema I, Gonçalves A, Cabral A, Diogo L, Galán L, Guimarães A, Fineza I, den Dunnen JT, Santos R. Oliveira J, et al. Among authors: fineza i. J Hum Genet. 2008;53(6):565-572. doi: 10.1007/s10038-008-0263-5. Epub 2008 Mar 11. J Hum Genet. 2008. PMID: 18330676

5

Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy.

Diogo L, Fineza I, Canha J, Borges L, Cardoso ML, Vilarinho L. Diogo L, et al. Among authors: fineza i. J Inherit Metab Dis. 1996;19(3):369-70. doi: 10.1007/BF01799270. J Inherit Metab Dis. 1996. PMID: 8803783 No abstract available.

6

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

Barbot C, Fineza I, Diogo L, Maia M, Melo J, Guimarães A, Pires MM, Cardoso ML, Vilarinho L. Barbot C, et al. Among authors: fineza i. Brain Dev. 1997 Jun;19(4):268-73. doi: 10.1016/s0387-7604(97)00574-3. Brain Dev. 1997. PMID: 9187477

7

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

8

A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.

Costa C, Oliveira J, Gonçalves A, Santos R, Bronze-da-Rocha E, Rebelo O, Pais RP, Fineza I. Costa C, et al. Among authors: fineza i. Neuromuscul Disord. 2013 Jul;23(7):557-61. doi: 10.1016/j.nmd.2013.03.005. Epub 2013 Apr 11. Neuromuscul Disord. 2013. PMID: 23582336

9

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

10

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

Oliveira J, Negrão L, Fineza I, Taipa R, Melo-Pires M, Fortuna AM, Gonçalves AR, Froufe H, Egas C, Santos R, Sousa M. Oliveira J, et al. Among authors: fineza i. J Hum Genet. 2015 Jun;60(6):305-12. doi: 10.1038/jhg.2015.20. Epub 2015 Mar 5. J Hum Genet. 2015. PMID: 25740612

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