Alberto Blázquez-Encinar (Alberto Blázquez)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 12

Top Topics

Hypertrophic Cardiomyopathy

Duchenne Muscular Dystrophy

Top Venues

International journal of molecular sciences

Journal of clinical medicine

Antioxidants (Basel, Switzerland)

Genetics in medicine : official journal of the American College of Medical Genetics

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

Publications

Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, María Paz Guerrero-Molina, Paloma Martín-Jiménez, Alberto Blázquez-Encinar, Pablo Serrano-Lorenzo, David Lora-Pablos, Montserrat Morales-Conejo, Irene González-Martínez, Elena Ana López-Jiménez, Miguel Angel Martin, Cristina Domínguez-González
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome. Journal of clinical medicine 12 (6) (2023)
Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, María Paz Guerrero-Molina, Paloma Martín-Jiménez, Alberto Blázquez-Encinar, Pablo Serrano-Lorenzo, David Lora-Pablos, Montserrat Morales-Conejo, Irene González-Martínez, Elena Ana López-Jiménez, Miguel Angel Martin, Cristina Domínguez-González
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome. Journal of clinical medicine 12 (6) (2023)
Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez-Encinar, Juan C Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel Angel Martin
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. International journal of molecular sciences 24 (2) (2023)
Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez-Encinar, Juan C Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel Angel Martin
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. International journal of molecular sciences 24 (2) (2023)
Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez-Encinar, Juan C Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel Angel Martin
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. International journal of molecular sciences 24 (2) (2023)
Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez-Encinar, Juan C Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel Angel Martin
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. International journal of molecular sciences 24 (2) (2023)
Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez-Encinar, Juan C Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel Angel Martin
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. International journal of molecular sciences 24 (2) (2023)
Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, María Paz Guerrero-Molina, Paloma Martín-Jiménez, Alberto Blázquez-Encinar, Pablo Serrano-Lorenzo, David Lora-Pablos, Montserrat Morales-Conejo, Irene González-Martínez, Elena Ana López-Jiménez, Miguel Angel Martin, Cristina Domínguez-González
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome. Journal of clinical medicine 12 (6) (2023)
Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez-Encinar, Juan C Rubio, Carmen Palma Milla, Joaquín Arenas, Miguel Angel Martin
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI). Genes 13 (10) (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)
Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Pablo Serrano-Lorenzo, Alberto Blázquez-Encinar, Gerardo Gutiérrez-Gutiérrez, Laura Martínez-Vicente, Lucía Galán-Dávila, Jorge García-García, Joaquín Arenas, Nuria Muelas, Aurelio Hernández-Laín, Cristina Domínguez-González, Miguel Angel Martin
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations. Journal of clinical medicine 11 (1) (2021)
Ines Garcia-Consuegra, Alberto Blázquez-Encinar, Juan Carlos Rubio, Joaquín Arenas, Alfonsina Ballester-Lopez, Adrián González-Quintana, Antoni L Andreu, Tomàs Pinós, Jaume Coll-Cantí, Alejandro Lucia, Gisela Nogales-Gadea, Miguel Angel Martin
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease. Genetics in medicine : official journal of the American College of Medical Genetics 18 (11) (2016)