Eduardo Ruiz-Pesini

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 19

Top Venues

Orphanet journal of rare diseases

International journal of molecular sciences

Genes

Clinical genetics

Universidad de Zaragoza

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Universidad de Zaragoza

Spain

Researcher (Academic) :: Bioquímica y Biología Molecular y Celular

Publications

Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro Del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree. Orphanet journal of rare diseases 19 (1) (2024)
Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro Del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree. Orphanet journal of rare diseases 19 (1) (2024)
Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro Del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree. Orphanet journal of rare diseases 19 (1) (2024)
Ana Vela-Sebastián, Ester López-Gallardo, Sonia Emperador, Carmen Hernández-Ainsa, David Pacheu-Grau, Ignacio Blanco, Andrea Ros, Ester Pascual-Benito, Neus Rabaneda-Lombarte, Silvia Presas-Rodríguez, Pilar García-Robles, Julio Montoya, Eduardo Ruiz-Pesini
Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation. Clinical genetics 102 (4) (2022)
M Pilar Bayona-Bafaluy, Ester López-Gallardo, Sonia Emperador, David Pacheu-Grau, Julio Montoya, Eduardo Ruiz-Pesini
Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants? Orphanet journal of rare diseases 17 (1) (2022)
Carmen Hernández-Ainsa, Ester López-Gallardo, María Concepción García-Jiménez, Francisco José Climent-Alcalá, Carmen Rodríguez-Vigil, Marta García Fernández de Villalta, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador
Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome. Disease models & mechanisms 15 (3) (2022)
Eduardo Ruiz-Pesini, María Pilar Bayona-Bafaluy, Teresa Sanclemente, José Puzo, Julio Montoya, David Pacheu-Grau
Mitochondrial Genetic Background May Impact Statins Side Effects and Atherosclerosis Development in Familial Hypercholesterolemia. International journal of molecular sciences 24 (1) (2022)
Eduardo Ruiz-Pesini, María Pilar Bayona-Bafaluy, Teresa Sanclemente, José Puzo, Julio Montoya, David Pacheu-Grau
Mitochondrial Genetic Background May Impact Statins Side Effects and Atherosclerosis Development in Familial Hypercholesterolemia. International journal of molecular sciences 24 (1) (2022)
Eduardo Ruiz-Pesini, María Pilar Bayona-Bafaluy, Teresa Sanclemente, José Puzo, Julio Montoya, David Pacheu-Grau
Mitochondrial Genetic Background May Impact Statins Side Effects and Atherosclerosis Development in Familial Hypercholesterolemia. International journal of molecular sciences 24 (1) (2022)
Cristina Jou, Andres Nascimento, Anna Codina, Julio Montoya, Ester López-Gallardo, Sonia Emperador, Eduardo Ruiz-Pesini, Raquel Montero, Daniel Natera-de Benito, Carlos I Ortez, Jesus Marquez, María Victoria Zelaya, Alfonso Gutierrez-Mata, Carmen Badosa, Laura Carrera-García, Jesica Expósito-Escudero, Monica Roldán, Yolanda Camara, Ramon Ramon, Isidro Ferrer, Cecilia Jimenez-Mallebrera, Rafael Artuch
Pathological Features in Paediatric Patients with TK2 Deficiency. International journal of molecular sciences 23 (19) (2022)
Nuria Bujan, Constanza Morén, Francesc Josep García-García, Alberto Blázquez-Encinar, Clara Carnicer, Ana Belén Cortés, Cristina González, Ester López-Gallardo, Ester Lozano, Sonia Moliner, Laura Gort, Ester Tobías, Aitor Delmiro, Miguel Angel Martin, Miguel Ángel Fernández-Moreno, Eduardo Ruiz-Pesini, Elena Garcia-Arumí, Juan Carlos Rodríguez-Aguilera, Gloria Garrabou
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects. Antioxidants (Basel, Switzerland) 11 (4) (2022)
Marcello Bellusci, Abraham J Paredes-Fuentes, Eduardo Ruiz-Pesini, Beatriz Gómez, null null, Miguel Angel Martin, Julio Montoya, Rafael Artuch
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call. Genes 12 (10) (2021)
Eduardo Ruiz-Pesini, Julio Montoya, David Pacheu-Grau
Molecular Insights into Mitochondrial Protein Translocation and Human Disease. Genes 12 (7) (2021)
Nuria Garrido-Pérez, Ana Vela-Sebastián, Ester López-Gallardo, Sonia Emperador, Eldris Iglesias, Patricia Meade, Cecilia Jiménez-Mallebrera, Julio Montoya, M Pilar Bayona-Bafaluy, Eduardo Ruiz-Pesini
Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome. International journal of molecular sciences 21 (9) (2020)
Mouna Habbane, Laura Llobet, M Pilar Bayona-Bafaluy, José Eulalio Barcena, Leticia Ceberio, Covadonga Gómez-Díaz, Laura Gort, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini
Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA. Genes 11 (9) (2020)
Ester López-Gallardo, Francisco Cammarata-Scalisi, Sonia Emperador, Carmen Hernández-Ainsa, Mouna Habbane, Ana Vela-Sebastián, María Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis. Clinical genetics 97 (5) (2020)
Eldris Iglesias, M Pilar Bayona-Bafaluy, Alba Pesini, Nuria Garrido-Pérez, Patricia Meade, Paula Gaudó, Irene Jiménez-Salvador, Julio Montoya, Eduardo Ruiz-Pesini
Uridine Prevents Negative Effects of OXPHOS Xenobiotics on Dopaminergic Neuronal Differentiation. Cells 8 (11) (2019)
Sonia Emperador, Ester López-Gallardo, Carmen Hernández-Ainsa, Mouna Habbane, Julio Montoya, M Pilar Bayona-Bafaluy, Eduardo Ruiz-Pesini
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation. Orphanet journal of rare diseases 14 (1) (2019)
Olivia Esteban, Francisco Javier Ascaso, Javier Mateo, Tania Calvo, Julio Montoya, Eduardo Ruiz-Pesini
Effect of mitochondrial haplogroups on ranibizumab response in neovascular age-related macular degeneration patients: a pilot study. Acta ophthalmologica 97 (1) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Eduardo Ruiz-Pesini