Browsing by Author López de Heredia, Miguel
Showing results 1 to 17 of 17
| Issue Date | Title | Author(s) |
|---|---|---|
| May-2022 | CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative | Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel; Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pía; Artuch Iriberri, Rafael; Fillat, Cristina; Pérez Jurado, Luis A.; Montoliu, Lluis; Carracedo Álvarez, Ángel; Millán, José M.; Webb, Susan M.; Palau, Francesc; The CIBERER Network; Lapunzina, Pablo |
| 19-Feb-2024 | Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2 | Pérez Jurado, Luis A.; Cáceres, Alejandro; Balagué Dobón, Laura; Esko, Tonu; López de Heredia, Miguel; Quintela, Inés; Cruz, Raquel; Lapunzina, Pablo; Carracedo, Ángel; SCOURGE Cohort Group; González, Juan R. |
| 26-Feb-2019 | Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction | Monteagudo Sánchez, Ana; Sánchez Delgado, Marta; Hernandez Mora, Jose Ramon; Tubío Santamaría, Nuria; Gratacós Solsona, Eduard; Esteller, Manel; López de Heredia, Miguel; Nunes Martínez, Virginia; Choux, Cecile; Fauque, Patricia; Perez de Nanclares, Guiomar; Anton, Lauren; Elovitz, Michal A.; Iglesias Platas, Isabel; Monk, David |
| 11-Sep-2015 | Digenic inheritance in cystinuria mouse model | Espino Gaurch, Meritxell; Font i Llitjós, Mariona; Vilches, Clara; Salido, Eduardo; Prat, Esther; López de Heredia, Miguel; Palacín Prieto, Manuel; Nunes Martínez, Virginia |
| 3-Nov-2020 | Discovery of novel DNA methylation biomarkers for non‐invasive sporadic breast cancer detection in the Latino population | Cappetta, Mónica; Fernandez, Lucía; Brignoni, Lucía; Artagaveytia, Nora; Bonilla, Carolina; López de Heredia, Miguel; Esteller, Manel; Bertoni, Bernardo; Berdasco, María |
| 2014 | Disrupting MLC1 and GlialCAM and ClC-2interactions in leukodystrophy entails glial chloridechannel dysfunction | Hoegg-Beiler, Maja B.; Sirisi Dolcet, Sònia; Orozco, Ian J.; Ferrer, Isidro (Ferrer Abizanda); Hohensee, Svea; Auberson, Muriel; Gödde, Kathrin; Vilches, Clara; López de Heredia, Miguel; Nunes Martínez, Virginia; Estévez Povedano, Raúl; Jentsch, Thomas J. |
| 27-Aug-2013 | EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome | Farmer, Amy; Aymé, Ségolène; López de Heredia, Miguel; Maffei, Pietro; McCafferty, Susan; Młynarski, Wojciech; Nunes Martínez, Virginia; Parkinson, Kay; Paquis-Flucklinger, Véronique; Rohayem, Julia; Sinnott, Richard; Tillmann, Vallo; Tranebjærg, Lisbeth; Barrett, Timothy G. |
| 5-Dec-2023 | Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study | Gràcia-Garcia, Silvia; Mayayo Vallverdú, Clara; Prat, Esther; Vecino-Pérez, Marta; González, Laura; San Miguel, Luz; Lopera, Noelia; Arias, Ángela; Artuch, Rafael; López de Heredia, Miguel; Torrecilla, Carlos; Rousaud-Barón, Ferran; Angerri, Oriol; Errasti-Murugarren, Ekaitz; Nunes Martínez, Virginia |
| 11-Jan-2008 | Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility | Solé Acha, Xavier; Hernández, Pilar; López de Heredia, Miguel; Armengol, Lluís; Rodríguez Santiago, Benjamín; Gómez, Laia; Maxwell, Christopher A.; Aguiló Lúcia, Fernando; Condom i Mundó, Enric; Abril, Jesús; Pérez Jurado, Luis A.; Estivill, Xavier, 1955-; Nunes Martínez, Virginia; Capellá, G. (Gabriel); Gruber, Stephen B.; Moreno Aguado, Víctor; Pujana Genestar, M. Ángel |
| 21-Jun-2023 | Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders | Lee, Evan M.; Verma, Megha; Palaniappan, Nila; Pope, Emiko M.; Lee, Sammie; Blacher, Lindsey; Neerumalla, Pooja; An, William; Campbell, Toko; Brown, Cris; Hurst, Stacy; Marshall, Bess; Hershey, Tamara; Nunes, Virginia; López de Heredia, Miguel; Urano, Fumihiko |
| 21-Feb-2013 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype | López de Heredia, Miguel; Clèries Soler, Ramon; Nunes Martínez, Virginia |
| 1-Jul-2011 | Knockdown of Mlc1 in Primary Astrocytes Causes Cell Vacuolation: A Mlc Disease Cell Model | Duarri, Anna; López de Heredia, Miguel; Capdevila Nortes, Xavier; Ridder, Margreet C.; Montolio, Marisol; López Hernández, Tania; Boor, Ilja; Lien, Chun-Fu; Hagemann, Tracy; Messing, Albee; Gorecki, Dariusz C.; Scheper, Gert C.; Martinez, Albert; Nunes Martínez, Virginia; Van der Knaap, Marjo S.; Estévez Povedano, Raúl |
| 19-Nov-2024 | Prognostic significance of mutation type and chromosome fragility in Fanconi anemia | Ramírez de Haro, María José; Pujol, Roser; Minguillón, Jordi; Bogliolo, Massimo; Persico, Ilaria; Cavero, Debora; Cal, Aurora De La; Río, Paula; Navarro, Susana; Casado, José Antonio; Bailador, Almudena; Sanchez De La Fuente, Antonio; López de Heredia, Miguel; Almazán, Francisco; Antelo, M. Luisa; Argilés, Bienvenida; Badell, Isabel; Baragaño, Marta; Beléndez, Cristina; Bermúdez, Mar; Bernués, Marta; Buedo, María Isabel; Carrasco, Estela; Català, Albert; Costa, Dolors; Cuesta, Isabel; Fernandez Delgado, Rafael; Fernández Teijeiro, Ana; Figuera, Ángela; García, Marta; Gondra, Ainhoa; González, Macarena; González Muñiz, Soledad; Hernández Rodríguez, Ines; Ibañez, Fátima; Kelleher, Nicholas John; Lendínez, Francisco; López Duarte, Mónica; López Almaraz, Ricardo; Marchante, Inmaculada; Mendoza, Carmen; Nieto, José; Ojeda, Emilio; Payán Pernía, Salvador; Peláez, Irene; Pérez De Soto, Inmaculada; Portugal, Raquel; Ramos Arroyo, María A.; Regueiro, Alexandra; Rodríguez, Ana; Rosell, Jordi; Saez, Raquel; Sánchez, José; Sánchez, Martha; Senent, M. Leonor; Tapia, María; Trujillo Quintero, Juan Pablo; Vagace, José Manuel; Verdú Amorós, Jaime; Verdugo, Victória; Vidales, Isabel; Villarreal, Jasson; Díaz de Heredia, Cristina; Sevilla, Julián; Bueren, Juan Antonio; Surrallés i Calonge, Jordi |
| 1-Sep-2024 | Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia | Mayayo Vallverdú, Clara; Gaitán-Peñas, Héctor; Armand-Ugón, Mercedes; Muhaisen, Ashraf; Prat, Esther; Castellanos, Aida; Elorza Vidal, Xabier; López de Heredia, Miguel; Alonso Gardón, Marta; Pérez Rius, Carla; Vecino-Pérez, Marta; Mallén, Adrián; Errasti-Murugarren, Ekaitz; Hueso Val, Miguel; Artuch, Rafael; Nunes Martínez, Virginia; Estévez Povedano, Raúl |
| 7-Sep-2021 | S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model | López de Heredia, Miguel; Muñoz, Lourdes; Carru, Ciriaco; Sotgia, Salvatore; Zinellu, Angelo; Serra, Carmen; Llebaria Soldevila, Amadeu; Kato, Yukio; Nunes, Virginia |
| 1-Aug-2023 | The antioxidant l-ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria | Mayayo Vallverdú, Clara; López de Heredia, Miguel; Prat, Esther; González, Laura; Espino-Guarch, Meritxell; Vilches, Clara; Muñoz, Lourdes; Asensi, Miguel A.; Serra, Carmen; Llebaria Soldevila, Amadeu; Casado, Mercedes; Artuch Iriberri, Rafael; Garrabou Tornos, Glòria; Garcia Roves, Pablo M.; Pallardó, Federico V.; Nunes Martínez, Virginia |
| 26-Jul-2020 | The Genome-wide Methylation Profile of CD4+ T Cells From Individuals With Human Immunodeficiency Virus (HIV) Identifies Distinct Patterns Associated With Disease Progression | Moron Lopez, Sara; Urrea, Victor; Dalmau, Judith; López de Heredia, Miguel; Puertas Castro, Ma. Carmen; Ouchi, Dan; Gómez, Antonio; Passaes, Caroline; Mothe, Beatriz; Brander, Christian; Saez Cirion, Asier; Clotet, Bonaventura, 1953-; Esteller, Manel; Berdasco, María; Martínez Picado, Francisco Javier |