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Eva Richard

Showing results (21-30 of 42) with videos related to

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Oxidative Medicine and Cellular Longevity|May 11, 2018
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and HomocystinuriaEva Richard, Lorena Gallego-Villar, Ana Rivera-Barahona, et al.
Nucleic Acid Therapeutics|April 9, 2024
Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in PhenylketonuriaAinhoa Martínez-Pizarro, Mar Álvarez, Maja Dembic, et al.
Molecular Genetics and Metabolism|October 3, 2018
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associationsAna Rivera-Barahona, Rosa Navarrete, Raquel García-Rodríguez, et al.
Stem Cell Research|September 20, 2017
Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA geneEsmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, et al.
Blood|January 25, 2002
Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapyFrancisco X Arredondo-Vega, Ines Santisteban, Eva Richard, et al.
International Journal of Molecular Sciences|March 13, 2024
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia PatientLaura Arribas-Carreira, Margarita Castro, Fernando García, et al.
Scientific Reports|July 20, 2017
Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemiaAna Rivera-Barahona, Alejandro Fulgencio-Covián, Celia Pérez-Cerdá, et al.
Human Mutation|December 9, 2010
Defining the pathogenicity of creatine deficiency syndromePatricia Alcaide, Begoña Merinero, Pedro Ruiz-Sala, et al.
Basic Research in Cardiology|July 11, 2024
The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemiaYou Wang, Suhong Zhu, Wentao He, et al.
Human Mutation|June 18, 2010
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB typeAna Jorge-Finnigan, Cristina Aguado, Rocio Sánchez-Alcudia, et al.
Pageof 5

Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
Oxidative Medicine and Cellular Longevity|May 11, 2018
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and HomocystinuriaEva Richard, Lorena Gallego-Villar, Ana Rivera-Barahona, et al.
Nucleic Acid Therapeutics|April 9, 2024
Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in PhenylketonuriaAinhoa Martínez-Pizarro, Mar Álvarez, Maja Dembic, et al.
Molecular Genetics and Metabolism|October 3, 2018
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associationsAna Rivera-Barahona, Rosa Navarrete, Raquel García-Rodríguez, et al.
Stem Cell Research|September 20, 2017
Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA geneEsmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, et al.
Blood|January 25, 2002
Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapyFrancisco X Arredondo-Vega, Ines Santisteban, Eva Richard, et al.
International Journal of Molecular Sciences|March 13, 2024
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia PatientLaura Arribas-Carreira, Margarita Castro, Fernando García, et al.
Scientific Reports|July 20, 2017
Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemiaAna Rivera-Barahona, Alejandro Fulgencio-Covián, Celia Pérez-Cerdá, et al.
Human Mutation|December 9, 2010
Defining the pathogenicity of creatine deficiency syndromePatricia Alcaide, Begoña Merinero, Pedro Ruiz-Sala, et al.
Basic Research in Cardiology|July 11, 2024
The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemiaYou Wang, Suhong Zhu, Wentao He, et al.
Human Mutation|June 18, 2010
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB typeAna Jorge-Finnigan, Cristina Aguado, Rocio Sánchez-Alcudia, et al.
Pageof 5