Richard Rodriguez, Eva Maria eva.richard@uam.es
Publications
- Articles 53
- Books 0
- Book chapters 0
- Conferences 0
- Working papers 2
- Technical reports 0
- Research projects 13
- Supervised theses 12
- Patent or software license 0
Human propionyl-CoA carboxylase beta subunit gene: Exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients
- Rodriguez-Pombo, P
- Hoenicka, J
- Muro, S
- Perez, B
- Perez-Cerda, C
- Richard, E
- Desviat, LR
- Ugarte, M;
American Journal Of Human Genetics (p. 360-369) - 1/1/1998
- ISSN 00029297
Congenital disorder of glycosylation Ia: New differentially expressedproteins identified by 2-DE
- Richard E, Vega AI, Pérez B, Roche C, Velázquez R, Ugarte M, Pérez-Cerdá C
Biochemical And Biophysical Research Communications (p. 267-271) - 6/2/2009
10.1016/j.bbrc.2008.12.036 View at source
- ISSN 0006291X
Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts
- Gallego-Villar L, Pérez B, Ugarte M, Desviat LR, Richard E
Biochemical And Biophysical Research Communications (p. 457-461) - 26/9/2014
10.1016/j.bbrc.2014.08.091 View at source
- ISSN 0006291X
Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia
- Tamayo M
- Fulgencio-Covián A
- Navarro-García J
- Val-Blasco A
- Ruiz-Hurtado G
- Gil-Fernández M
- Martín-Nunes L
- Lopez J
- Desviat L
- Delgado C
- Richard E
- Fernández-Velasco M
Biochimica Et Biophysica Acta-Molecular Basis Of Disease - 1/1/2020
10.1016/j.bbadis.2019.165586 View at source
- ISSN 09254439
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type
- Jorge-Finnigan A, Gámez A, Pérez B, Ugarte M, Richard E
Biochimica Et Biophysica Acta. Molecular Basis Of Disease (p. 959-967) - 1/11/2010
10.1016/j.bbadis.2010.08.002 View at source
- ISSN 09254439
Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of
- Briso-Montiano, A.
- Vilas, A.
- Richard, E.
- Ruiz-Sala, P.
- Morato, E.
- Desviat, L. R.
- Ugarte, M.
- Rodriguez-Pombo, P.
- Perez, B.;
Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 1/9/2022
10.1016/j.bbadis.2022.166433 View at source
- ISSN 09254439
Genetic heterogeneity in propionic acidemia patients with ¿-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
Biochimica Et Biophysica Acta. Molecular Basis Of Disease (p. 351-358) - 30/3/1999
10.1016/s0925-4439(99)00008-3 View at source
- ISSN 09254439
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
Clinical Genetics (p. 576-581) - 1/6/2015
10.1111/cge.12426 View at source
- ISSN 00099163
Proteomics as Applied to Inherited Metabolic Diseases
- Richard, Eva
- Gamez, Alejandra
- Ruiz-Sala, Pedro
- Perez, Belen
- Desviat, Lourdes R.
- Ugarte, Magdalena;
Current Proteomics (p. 140-153) - 1/10/2009
10.2174/157016409789351897 View at source
- ISSN 15701646
Potential relationship between genotype and clinical outcome in propionic acidaemia patients
- Ugarte Perez, Magdalena
- Ruiz Desviat, Lourdes
- Rodriguez Pombo, Pilar
- Richard Rodriguez, Eva Maria
- Perez Gonzalez, Maria Belen
- Perez-Cerda, C
- Merinero, B
- Perez, B
- Desviat, L R
- Muro, S
- Garcia, M J
- Gangoiti, J
- Sanz, P
- Briones, P
- Ribes, A
- Martinez-Pardo, M
- Campistol, J
- Lama, R
- Murga, M L
- Lema-Garrett, T
- Verdu, A
- Ugarte, M
European Journal Of Human Genetics (p. 187-194) - 18/4/2000
10.1038/sj.ejhg.5200442 View at source
- ISSN 10184813
This researcher has no books.
This researcher has no book chapters.
This researcher has no conferences.
Adenosine deaminase deficiency with mosaicism for a second-site suppressor of a splicing mutation: Decline in revertant T lymphocytes during enzyme replacement therapy
- Arredondo-Vega FX, Santisteban I, Richard E, Bali P, Koleilat M, Loubser M, Al-Ghonaium A, Al-Helali M, Hershfield MS
Blood (p. 1005-1013) - 1/2/2002
10.1182/blood.v99.3.1005 View at source
- ISSN 00064971
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis
- Ugarte Perez, Magdalena
- Rodriguez Pombo, Pilar
- Richard Rodriguez, Eva Maria
- Perez-Cerda, C
- Merinero, B
- Marti, M
- Cabrera, JC
- Cabrera, J C
- Pena, L
- Garcia, MJ
- Garcia, M J
- Gangoiti, J
- Sanz, P
- Hoenicka, J
- Muro, S
European Journal Of Pediatrics (p. 50-52) - 1/4/1998
- ISSN 03406199
- iMarina
This researcher has no technical reports.
Enfermedades metabólicas hereditarias: avances en diagnóstico clínico, bioquímico y genético.
- Rodriguez Pombo, Pilar (Investigador/a)
- Pedro Ruiz Sala (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador/a)
- Richard Rodriguez, Eva Maria (Investigador/a)
- Celia Perez Cerda (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador/a)
- Begoña Merinero Cortes (Investigador/a)
- Ugarte Perez, Magdalena (Investigador principal (IP))
Period: 01-01-2006 - 31-12-2006
- iMarina
Diagnóstico y seguimiento de los defectos congénitos de glicosilación, caracterización bioquímica y molecular.
- Pedro Ruiz Sala (Investigador/a)
- Maria Jesus Ecay Crespo (Investigador/a)
- Fatima Leal Perez (Investigador/a)
- Richard Rodriguez, Eva Maria (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador/a)
- Celia Perez Cerda (Investigador principal (IP))
Period: 01-01-2005 - 31-12-2007
- iMarina
Estudio del proteoma mitocondrial humano Identificación y funcionalidad de genes humanos implicados en el metabolismo celular.
- Maria Angeles Martinez Garcia (Investigador/a)
- Pedro Ruiz Sala (Investigador/a)
- Begoña Merinero Cortes (Investigador/a)
- Richard Rodriguez, Eva Maria (Investigador principal (IP))
Period: 15-12-2003 - 14-12-2006
- iMarina
Estudios fisiopatológicos para la búsqueda de nuevas dianas terapéuticas en acidemia propiónica mediante la caracterización del modelo murino y el desarrollo de nuevos modelos celulares humanos basados en iPSCs
- ALONSO BARROSO, ESMERALDA (Otros)
- ALONSO BARROSO, ESMERALDA (Autor o Coautor)
- Ruiz Desviat, Lourdes (Director)
- Richard Rodriguez, Eva Maria (Director)
- Fernandez Piqueras, Jose (Autor o Coautor) Doctorando: Alonso Barroso, Esmeralda
29/10/2020
- iMarina
Gene editing and hepatic direct cell reprogramming for the treatment of Primary Hyperoxaluria type 1
- García Bravo, María (Director)
- Segovia Sanz, José C. (Director)
- Richard Rodriguez, Eva Maria (Tutor) Doctorando: Nieto Romero, Virginia
20/12/2021
- iMarina
Hidrogeles fototérmicos con aplicación en ingeniería tisular ósea
- Vilaboa Díaz, Nuria E. (Director)
- Richard Rodriguez, Eva Maria (Tutor) Doctorando: Sánchez Casanova, Silvia
4/6/2021
- iMarina
Regulación fisiológica de PTEN tras la estimulación con factores de crecimiento
- Carrera Ramírez, Ana Clara (Director)
- Richard Rodriguez, Eva Maria (Tutor) Doctorando: Olazábal Móran, Manuel
18/9/2020
- iMarina
Investigación traslacional en las cardiomiopatías asociadas a la acidemia propiónica.
- Fernandez Piqueras, Jose (Autor o Coautor)
- Ruiz Desviat, Lourdes (Director)
- Richard Rodriguez, Eva Maria (Director)
1/1/2020
- iMarina
Functional characterization of CAD, an antitumoral target controlling the de novo pyrimidine biosynthesis
- Ramón Maiques, Santiago (Director)
- Richard Rodriguez, Eva Maria (Tutor) Doctorando: Caño Ochoa. Francisco del.
26/6/2019
- iMarina
Fragment based ligand discovery on focal adhesion kinase
- Mayor Menendez, Federico (Autor o Coautor)
- Lietha, Daniel (Director)
21/9/2018
- iMarina
Exploring the roles of the SMC5/6 complex in cancer, ageing and kidney disorders
- Fernandez Capetillo, Osca (Director)
- Richard Rodriguez, Eva Maria (Tutor) Doctorando: Schiavoni, Federica
2/6/2017
- iMarina
Estudios genéticos, fisiopatológicos y con oligonucleótidos antisentido en enfermedades neurometabólicas
- Cadenas Alvarez, Susana (Autor o Coautor)
- Fernandez Piqueras, Jose (Autor o Coautor)
- Eva María Richard Rodríguez (Director)
- Lourdes Ruiz Desviat (Director) Doctorando: Lorena Gallego Villar
1/1/2015
- iMarina
This researcher has no patents or software licenses.
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