Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis
Vázquez-Mosquera, María E, González-Vioque, Emiliano, Barbosa-Gouveia, Sofía, Bellido-Guerrero, Diego, Tejera-Pérez, Cristina, Martinez-Olmos, Miguel A, Fernández-Pombo, Antía, Castaño-González, Luis A, Chans-Gerpe, Roi, Couce, María L
Published in Orphanet journal of rare diseases (04.03.2022)
Published in Orphanet journal of rare diseases (04.03.2022)
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Alpha7 acetylcholine receptor autoantibodies are rare in sera of patients diagnosed with schizophrenia or bipolar disorder
Hoffmann, Carolin, Stevens, Jo, Zong, Shenghua, van Kruining, Daan, Saxena, Abhishek, Küçükali, Cem İsmail, Tüzün, Erdem, Yalçınkaya, Nazlı, De Hert, Marc, González-Vioque, Emiliano, Arango, Celso, Lindstrom, Jon, De Baets, Marc H, Rutten, Bart P F, van Os, Jim, Molenaar, Peter, Losen, Mario, Martinez-Martinez, Pilar
Published in PloS one (06.12.2018)
Published in PloS one (06.12.2018)
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Journal Article
Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit
Molina-Granada, David, González-Vioque, Emiliano, Dibley, Marris G., Cabrera-Pérez, Raquel, Vallbona-Garcia, Antoni, Torres-Torronteras, Javier, Sazanov, Leonid A., Ryan, Michael T., Cámara, Yolanda, Martí, Ramon
Published in Communications biology (23.06.2022)
Published in Communications biology (23.06.2022)
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Journal Article
Mitochondrial Transcription Factor B2 Is Essential for Metabolic Function in Drosophila melanogaster Development
Adán, Cristina, Matsushima, Yuichi, Hernández-Sierra, Rosana, Marco-Ferreres, Raquel, Fernández-Moreno, Miguel Ángel, González-Vioque, Emiliano, Calleja, Manuel, Aragón, Juan J., Kaguni, Laurie S., Garesse, Rafael
Published in The Journal of biological chemistry (02.05.2008)
Published in The Journal of biological chemistry (02.05.2008)
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Journal Article
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome
Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria E, Gonzalez-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Valverde, Laura L, Armstrong-Moron, Judith, Fons-Estupiña, Maria Del Carmen, Wintjes, Liesbeth T, Kappen, Antonia, Rodenburg, Richard J, Couce, Maria L
Published in International journal of molecular sciences (15.12.2021)
Published in International journal of molecular sciences (15.12.2021)
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Journal Article
Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder
Couce, María L, Sánchez-Pintos, Paula, González-Vioque, Emiliano, Leis, Rosaura
Published in Nutrients (01.10.2020)
Published in Nutrients (01.10.2020)
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Journal Article
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects
Martinez‐Delgado, Beatriz, Lopez‐Martin, Estrella, Lara‐Herguedas, Julián, Monzon, Sara, Cuesta, Isabel, Juliá, Miguel, Aquino, Virginia, Rodriguez‐Martin, Carlos, Damian, Alejandra, Gonzalo, Irene, Gomez‐Mariano, Gema, Baladron, Beatriz, Cazorla, Rosario, Iglesias, Gema, Roman, Enriqueta, Ros, Purificacion, Tutor, Pablo, Mellor, Susana, Jimenez, Carlos, Cabrejas, Maria Jose, Gonzalez‐Vioque, Emiliano, Alonso, Javier, Bermejo‐Sánchez, Eva, Posada, Manuel
Published in American journal of medical genetics. Part A (01.03.2021)
Published in American journal of medical genetics. Part A (01.03.2021)
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Journal Article
Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease
de Castro, María José, González-Vioque, Emiliano, Barbosa-Gouveia, Sofía, Salguero, Enrique, Rite, Segundo, López-Suárez, Olalla, Pérez-Muñuzuri, Alejandro, Couce, María-Luz
Published in Journal of clinical medicine (23.07.2020)
Published in Journal of clinical medicine (23.07.2020)
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Journal Article
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome
Cámara, Yolanda, González-Vioque, Emiliano, Scarpelli, Mauro, Torres-Torronteras, Javier, Caballero, Andrea, Hirano, Michio, Martí, Ramon
Published in Human molecular genetics (01.05.2014)
Published in Human molecular genetics (01.05.2014)
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Journal Article
Dietary Interventions for Autism Spectrum Disorder: A Meta-analysis
Fraguas, David, Díaz-Caneja, Covadonga M, Pina-Camacho, Laura, Moreno, Carmen, Durán-Cutilla, Manuel, Ayora, Miriam, González-Vioque, Emiliano, de Matteis, Mario, Hendren, Robert L, Arango, Celso, Parellada, Mara
Published in Pediatrics (Evanston) (01.11.2019)
Published in Pediatrics (Evanston) (01.11.2019)
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Journal Article
Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy
Maestro‐Benedicto, Alba, Vela, Paula, Frutos, Fernando, Mora, Nerea, Pomares, Antonia, Gonzalez‐Vioque, Emiliano, Briceño, Ana, Cabrera, Eva, Cobo‐Marcos, Marta, Dominguez, Fernando, Gonzalez‐Lopez, Esther, Segovia, Javier, Lara‐Pezzi, Enrique, Garcia‐Pavia, Pablo
Published in European journal of heart failure (01.12.2022)
Published in European journal of heart failure (01.12.2022)
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Journal Article
The search for an autoimmune origin of psychotic disorders: Prevalence of autoantibodies against hippocampus antigens, glutamic acid decarboxylase and nuclear antigens
Hoffmann, Carolin, Zong, Shenghua, Mané-Damas, Marina, Stevens, Jo, Malyavantham, Kishore, Küçükali, Cem İsmail, Tüzün, Erdem, De Hert, Marc, van Beveren, Nico J.M., González-Vioque, Emiliano, Arango, Celso, Damoiseaux, Jan G.M.C., Rutten, Bart P., Molenaar, Peter C., Losen, Mario, Martinez-Martinez, Pilar
Published in Schizophrenia research (01.02.2021)
Published in Schizophrenia research (01.02.2021)
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Journal Article
The c.386A>C p.(Asn129Thr) variant in SMAD4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant
Valentín, Fátima, de Tejada, Alberto Herreros, Gonzaléz-Vioque, Emiliano, García-Simón, Natalia, Sánchez, Antonio, Romero, Atocha
Published in Molecular genetics & genomic medicine (01.01.2024)
Published in Molecular genetics & genomic medicine (01.01.2024)
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Journal Article
Detection and molecular diagnosis of a new case of congenital analbuminaemia
Cabrejas Núñez, M Josefa, Izquierdo Álvarez, Cristina, Gónzalez Vioque, Emiliano, Almería Lafuente, Alejandro, Silvestre Mardomingo, Ramona Ángeles
Published in Medicina clinica (10.04.2020)
Published in Medicina clinica (10.04.2020)
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Journal Article
Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA
Cámara, Yolanda, González-Vioque, Emiliano, Scarpelli, Mauro, Torres-Torronteras, Javier, Martí, Ramon
Published in Drug discovery today (01.10.2013)
Published in Drug discovery today (01.10.2013)
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Journal Article
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center
Barbosa-Gouveia, Sofia, Vázquez-Mosquera, María E, González-Vioque, Emiliano, Álvarez, José V, Chans, Roi, Laranjeira, Francisco, Martins, Esmeralda, Ferreira, Ana Cristina, Avila-Alvarez, Alejandro, Couce, María L
Published in Genes (19.08.2021)
Published in Genes (19.08.2021)
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Journal Article
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL
Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Hermida, Álvaro, Suarez, María Unceta, Martínez-González, María Jesús, Borges, Filipa, Wintjes, Liesbeth, Kappen, Antonia, Rodenburg, Richard, Couce, María-Luz
Published in Genes (02.09.2020)
Published in Genes (02.09.2020)
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