Experimental Evaluation Method of Asphaltene Deposition Inhibitor’s Efficacity at Atmospheric Pressure Using a Fully Immersed Quartz Crystal Resonator, Centrifugation, and Optical Microscopy Techniques
El Ghazouani, Jawad, Saidoun, Mohamed, Tort, Frédéric, Daridon, Jean-Luc
Published in Energy & fuels (20.04.2023)
Published in Energy & fuels (20.04.2023)
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Journal Article
Evaluation of the Influence of a Chemical Inhibitor on Asphaltene Destabilization and Deposition Mechanisms under Atmospheric and Oil Production Conditions Using QCM and AFM Techniques
Cassiède, Marc, Mejia, Aurora, Radji, Sadia, Carrier, Hervé, Daridon, Jean-Luc, Saidoun, Mohamed, Tort, Frédéric
Published in Energy & fuels (04.11.2021)
Published in Energy & fuels (04.11.2021)
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Journal Article
Lipoic acid biosynthesis defects
Mayr, Johannes A., Feichtinger, René G., Tort, Frederic, Ribes, Antonia, Sperl, Wolfgang
Published in Journal of inherited metabolic disease (01.07.2014)
Published in Journal of inherited metabolic disease (01.07.2014)
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Journal Article
Conference Proceeding
Differential diagnosis of lipoic acid synthesis defects
Tort, Frederic, Ferrer-Cortes, Xènia, Ribes, Antonia
Published in Journal of inherited metabolic disease (01.11.2016)
Published in Journal of inherited metabolic disease (01.11.2016)
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Journal Article
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations
Arrabal, Luisa, Muñoz-Pujol, Gerard, Medina Martínez, Inmaculada, Gort, Laura, García-Villoria, Judit, Roldán, Susana, Tort, Frederic, Ribes, Antonia
Published in International journal of molecular sciences (01.08.2023)
Published in International journal of molecular sciences (01.08.2023)
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Journal Article
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Del Toro, Mireia, García-Cazorla, Ãngeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia
Published in Orphanet journal of rare diseases (30.04.2021)
Published in Orphanet journal of rare diseases (30.04.2021)
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Journal Article
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency
Muñoz-Pujol, Gerard, Alforja-Castiella, Socorro, Casaroli-Marano, Ricardo, Morales-Romero, Blai, García-Villoria, Judit, Yépez, Vicente A., Gagneur, Julien, Gusic, Mirjana, Prokisch, Holger, Tort, Frederic, Ribes, Antonia
Published in International journal of molecular sciences (15.10.2022)
Published in International journal of molecular sciences (15.10.2022)
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Journal Article
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de Los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia
Published in Orphanet journal of rare diseases (13.07.2023)
Published in Orphanet journal of rare diseases (13.07.2023)
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Journal Article
Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model
Mateu-Bosch, Anna, Segur-Bailach, Eulàlia, Muñoz-Moreno, Emma, Barallobre, María José, Arbonés, Maria Lourdes, Gea-Sorlí, Sabrina, Tort, Frederic, Ribes, Antonia, García-Villoria, Judit, Fillat, Cristina
Published in Molecular therapy. Methods & clinical development (12.09.2024)
Published in Molecular therapy. Methods & clinical development (12.09.2024)
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Journal Article
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease
Segur-Bailach, Eulàlia, Ugarteburu, Olatz, Tort, Frederic, Texido, Laura, Painous, Celia, Compta, Yaroslau, Martí, Maria José, Ribes, Antonia, Gort, Laura
Published in Journal of clinical medicine (21.03.2022)
Published in Journal of clinical medicine (21.03.2022)
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Journal Article
Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response
Ugarteburu, Olatz, Sánchez-Vilés, Marta, Ramos, Julio, Barcos-Rodríguez, Tamara, Garrabou, Gloria, García-Villoria, Judit, Ribes, Antonia, Tort, Frederic
Published in Journal of clinical medicine (26.03.2020)
Published in Journal of clinical medicine (26.03.2020)
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Journal Article
Retinoblastoma pathway defects show differential ability to activate the constitutive DNA damage response in human tumorigenesis
TORT, Frederic, BARTKOVA, Jirina, SEHESTED, Maxwell, ØRNTOFT, Torben, LUKAS, Jiri, BARTEK, Jiri
Published in Cancer research (Chicago, Ill.) (01.11.2006)
Published in Cancer research (Chicago, Ill.) (01.11.2006)
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Journal Article
Leigh syndrome associated with TRMU gene mutations
Sala-Coromina, Júlia, Miguel, Lucía Dougherty-de, de las Heras, Javier, Lasa-Aranzasti, Amaia, Garcia-Arumi, Elena, Carreño, Lidia, Arranz, Jose Antonio, Carnicer, Clara, Unceta-Suárez, María, Sanchez-Montañez, Angel, Gort, Laura, Tort, Frederic, del Toro, Mireia
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
Jou, Cristina, Ortigoza-Escobar, Juan D, O'Callaghan, Maria M, Nascimento, Andres, Darling, Alejandra, Pias-Peleteiro, Leticia, Perez-Dueñas, Belén, Pineda, Mercedes, Codina, Anna, Arjona, César, Armstrong, Judith, Palau, Francesc, Ribes, Antonia, Gort, Laura, Tort, Frederic, Navas, Placido, Ruiz-Pesini, Eduardo, Emperador, Sonia, Lopez-Gallardo, Ester, Bayona-Bafaluy, Pilar, Montero, Raquel, Jimenez-Mallebrera, Cecilia, Garcia-Cazorla, Angels, Montoya, Julio, Yubero, Delia, Artuch, Rafael
Published in Journal of clinical medicine (10.01.2019)
Published in Journal of clinical medicine (10.01.2019)
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Journal Article
Molecular characterization of a new ALK translocation involving Moesin (MSN-ALK) in anaplastic large cell lymphoma
TORT, Frederic, PINYOL, Magda, MASON, David, CAMPO, Elias, PULFORD, Karen, RONCADOR, Giovanna, HERNANDEZ, Lluis, NAYACH, Iracema, KLUIN-NELEMANS, Hanneke C, KLUIN, Philip, TOURIOL, Christian, DELSOL, Georges
Published in Laboratory investigation (01.03.2001)
Published in Laboratory investigation (01.03.2001)
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Journal Article
CHK2-decreased protein expression and infrequent genetic alterations mainly occur in aggressive types of non-Hodgkin lymphomas
Tort, Frederic, Hernàndez, Silvia, Beà, Silvia, Martı́nez, Antonio, Esteller, Manel, Herman, James G., Puig, Xavier, Camacho, Emma, Sánchez, Montse, Nayach, Iracema, Lopez-Guillermo, Armando, Fernández, Pedro L., Colomer, Dolors, Hernàndez, Luis, Campo, Elias
Published in Blood (15.12.2002)
Published in Blood (15.12.2002)
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Journal Article