Nogueira C - Search Results

1

The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients.

Vilarinho L, Chorão R, Cardoso ML, Rocha H, Nogueira C, Santorelli FM. Vilarinho L, et al. Among authors: nogueira c. J Inherit Metab Dis. 1999 Feb;22(1):90-1. doi: 10.1023/a:1005471904710. J Inherit Metab Dis. 1999. PMID: 10070626 No abstract available.

2

mtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased risk.

Goios A, Nogueira C, Pereira C, Vilarinho L, Amorim A, Pereira L. Goios A, et al. Among authors: nogueira c. J Inherit Metab Dis. 2005;28(5):769-78. doi: 10.1007/s10545-005-0023-z. J Inherit Metab Dis. 2005. PMID: 16151908

3

Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card.

Nogueira C, Quelhas D, Vilarinho L. Nogueira C, et al. Mol Genet Metab. 2006 Apr;87(4):379. doi: 10.1016/j.ymgme.2005.10.001. Epub 2005 Dec 15. Mol Genet Metab. 2006. PMID: 16343971 No abstract available.

4

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.

Pereira C, Nogueira C, Barbot C, Tessa A, Soares C, Fattori F, Guimarães A, Santorelli FM, Vilarinho L. Pereira C, et al. Among authors: nogueira c. Biochem Biophys Res Commun. 2007 Mar 23;354(4):937-41. doi: 10.1016/j.bbrc.2007.01.068. Epub 2007 Jan 23. Biochem Biophys Res Commun. 2007. PMID: 17266923 Free article.

5

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.

Nogueira C, Nunes J, Evangelista T, Fattori F, Tessa A, Pereira C, Santorelli FM, Vilarinho L. Nogueira C, et al. Mitochondrion. 2007 Dec;7(6):396-8. doi: 10.1016/j.mito.2007.08.002. Epub 2007 Aug 19. Mitochondrion. 2007. PMID: 17897888

6

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leão E, Kok F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C. Nogueira C, et al. Mol Genet Metab. 2008 Apr;93(4):475-80. doi: 10.1016/j.ymgme.2007.11.005. Epub 2007 Dec 27. Mol Genet Metab. 2008. PMID: 18164228

7

Identification of novel L2HGDH gene mutations and update of the pathological spectrum.

Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L. Vilarinho L, et al. Among authors: nogueira c. J Hum Genet. 2010 Jan;55(1):55-8. doi: 10.1038/jhg.2009.110. Epub 2009 Nov 13. J Hum Genet. 2010. PMID: 19911013

8

Infantile-onset disorders of mitochondrial replication and protein synthesis.

Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM. Nogueira C, et al. J Child Neurol. 2011 Jul;26(7):866-75. doi: 10.1177/0883073811402072. Epub 2011 May 13. J Child Neurol. 2011. PMID: 21572058 Review.

9

Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.

Nogueira C, Coutinho M, Pereira C, Tessa A, Santorelli FM, Vilarinho L. Nogueira C, et al. Genet Res Int. 2011;2011:587602. doi: 10.4061/2011/587602. Epub 2011 Sep 25. Genet Res Int. 2011. PMID: 22567359 Free PMC article.

10

MPV17: fatal hepatocerebral presentation in a Brazilian infant.

Nogueira C, de Souza CF, Husny A, Derks TG, Santorelli FM, Vilarinho L. Nogueira C, et al. Mol Genet Metab. 2012 Dec;107(4):764. doi: 10.1016/j.ymgme.2012.10.010. Epub 2012 Oct 23. Mol Genet Metab. 2012. PMID: 23137571 No abstract available.

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