Richard E - Search Results

1

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.

Pérez-Cerdá C, Merinero B, Martí M, Cabrera JC, Peña L, García MJ, Gangoiti J, Sanz P, Rodríguez-Pombo P, Hoenicka J, Richard E, Muro S, Ugarte M. Pérez-Cerdá C, et al. Among authors: richard e. Eur J Pediatr. 1998 Jan;157(1):50-2. doi: 10.1007/s004310050765. Eur J Pediatr. 1998. PMID: 9461363

2

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.

Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M. Richard E, et al. Hum Genet. 1997 Nov;101(1):93-6. doi: 10.1007/s004390050593. Hum Genet. 1997. PMID: 9385377

3

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients.

Hoenicka J, Rodríguez-Pombo P, Pérez-Cerdá C, Muro S, Richard E, Ugarte M. Hoenicka J, et al. Among authors: richard e. Hum Mutat. 1998;Suppl 1:S234-6. doi: 10.1002/humu.1380110175. Hum Mutat. 1998. PMID: 9452096 No abstract available.

4

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

Rodríguez-Pombo P, Hoenicka J, Muro S, Pérez B, Pérez-Cerdá C, Richard E, Desviat LR, Ugarte M. Rodríguez-Pombo P, et al. Among authors: richard e. Am J Hum Genet. 1998 Aug;63(2):360-9. doi: 10.1086/301970. Am J Hum Genet. 1998. PMID: 9683601 Free PMC article.

5

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.

Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M. Richard E, et al. Biochim Biophys Acta. 1999 Mar 30;1453(3):351-8. doi: 10.1016/s0925-4439(99)00008-3. Biochim Biophys Acta. 1999. PMID: 10101253 Free article.

6

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA. Ugarte M, et al. Among authors: richard e. Hum Mutat. 1999;14(4):275-82. doi: 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N. Hum Mutat. 1999. PMID: 10502773 Review.

7

Potential relationship between genotype and clinical outcome in propionic acidaemia patients.

Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A, Ugarte M. Pérez-Cerdá C, et al. Among authors: richard e. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784

8

Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.

Richard E, Monteoliva L, Juarez S, Pérez B, Desviat LR, Ugarte M, Albar JP. Richard E, et al. J Proteome Res. 2006 Jul;5(7):1602-10. doi: 10.1021/pr050481r. J Proteome Res. 2006. PMID: 16823967

9

Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway.

Richard E, Alvarez-Barrientos A, Pérez B, Desviat LR, Ugarte M. Richard E, et al. J Pathol. 2007 Dec;213(4):453-61. doi: 10.1002/path.2248. J Pathol. 2007. PMID: 17948227

10

Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE.

Richard E, Vega AI, Pérez B, Roche C, Velázquez R, Ugarte M, Pérez-Cerdá C. Richard E, et al. Biochem Biophys Res Commun. 2009 Feb 6;379(2):267-71. doi: 10.1016/j.bbrc.2008.12.036. Epub 2008 Dec 25. Biochem Biophys Res Commun. 2009. PMID: 19101518

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