Richard E - Search Results

1

Organizational knowledge translation strategies for allied health professionals in traumatology settings: realist review protocol.

Latulippe K, LeBlanc A, Gagnon MP, Boivin K, Lavoie P, Dufour J, Raynard EP, Richard E, Lamontagne MÈ. Latulippe K, et al. Among authors: richard e. Syst Rev. 2021 Sep 23;10(1):255. doi: 10.1186/s13643-021-01793-4. Syst Rev. 2021. PMID: 34556170 Free PMC article.

2

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.

3

Role of miRNAs in human disease and inborn errors of metabolism.

Rivera-Barahona A, Pérez B, Richard E, Desviat LR. Rivera-Barahona A, et al. Among authors: richard e. J Inherit Metab Dis. 2017 Jul;40(4):471-480. doi: 10.1007/s10545-017-0018-6. Epub 2017 Feb 22. J Inherit Metab Dis. 2017. PMID: 28229250 Review.

4

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.

Rivera-Barahona A, Navarrete R, García-Rodríguez R, Richard E, Ugarte M, Pérez-Cerda C, Pérez B, Gámez A, Desviat LR. Rivera-Barahona A, et al. Among authors: richard e. Mol Genet Metab. 2018 Nov;125(3):266-275. doi: 10.1016/j.ymgme.2018.09.008. Epub 2018 Sep 26. Mol Genet Metab. 2018. PMID: 30274917

5

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.

Brasil S, Richard E, Jorge-Finnigan A, Leal F, Merinero B, Banerjee R, Desviat LR, Ugarte M, Pérez B. Brasil S, et al. Among authors: richard e. Clin Genet. 2015 Jun;87(6):576-81. doi: 10.1111/cge.12426. Epub 2014 Jun 6. Clin Genet. 2015. PMID: 24813872 Free PMC article.

6

Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia.

Alonso-Barroso E, Pérez B, Desviat LR, Richard E. Alonso-Barroso E, et al. Among authors: richard e. Int J Mol Sci. 2021 Jan 25;22(3):1161. doi: 10.3390/ijms22031161. Int J Mol Sci. 2021. PMID: 33503868 Free PMC article.

7

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

8

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.

9

Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia.

Rivera-Barahona A, Alonso-Barroso E, Pérez B, Murphy MP, Richard E, Desviat LR. Rivera-Barahona A, et al. Among authors: richard e. Mol Genet Metab. 2017 Sep;122(1-2):43-50. doi: 10.1016/j.ymgme.2017.07.009. Epub 2017 Jul 25. Mol Genet Metab. 2017. PMID: 28774709

10

Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.

Richard E, Desviat LR, Ugarte M, Pérez B. Richard E, et al. J Cell Biochem. 2013 Jan;114(1):183-91. doi: 10.1002/jcb.24316. J Cell Biochem. 2013. PMID: 22887477

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