About the VHIR
Here at the Vall d'Hebron Research Institute (VHIR) we promote biomedical research, innovation and teaching. Over 1,800 people are seeking to understand diseases today so the treatment can be improved tomorrow.
Research
We are working to understand diseases, to find out how they operate and to create better treatments for patients. Get to know about our groups and their lines of research.
People
People are the centre of the Vall d'Hebron Research Institute (VHIR). This is why we are bound by the principles of freedom of research, gender equality and professional attitudes that HRS4R promotes.
Clinical trials
Our work is not just basic or translational; we are leaders in clinical research. Enter and find about the clinical trials we are conducting and why we are a world reference in this field.
Progress
Our aim is to make the research carried out at the Vall d’Hebron Research Institute (VHIR) a driving force for transformation. How? By identifying new channels and solutions for the promotion of people's health and well-being.
Core facilities
We offer specialist support for researchers, internal and external alike, ranging from specific services to preparing complete projects. All this, from a perspective of quality and speed of response.
News
We offer you a gateway for staying up to date on everything going on at the Vall d’Hebron Research Institute (VHIR), from the latest news to future solidarity activities and initiatives that we are organising.
The Genetics Medicine group of the VHIR belongs to the Clinical and Molecular Genetic Area of the Hospital Vall d’Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development.
The group actively works in different consortiums and networks for rare disorders including ERN Ithaca, Cranio, Bond and NMD.
Specific research lines and teams include:
IP: -
IP: Alfons Macaya Ruíz Collaborators: Laia Ventura i Expósito, Belen Perez Dueñas, Laura Costa Comellas, Neurologia infantil, Francina Munell Casadesus, Anna Marcé Grau, Miquel Raspall Chaure, Mireia del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián, Ana Laura Cazurro Gutierrez, David Gómez Andrés, Amaia Lasa Aranzasti, Lucy Dougherty de Miguel Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 0.01 Reference: 2021 SGR 01171 Duration: 01/01/2022 - 30/06/2025
IP: Alberto Plaja Rustein Collaborators: Anna Maria Cueto Gonzalez Funding agency: Instituto de Salud Carlos III Funding: 123420 Reference: PI20/01767 Duration: 01/01/2021 - 30/06/2025
IP: Belen Perez Dueñas Collaborators: Maria Victoria Gonzalez Martinez, Trastornos del movimiento en la edad pediátrica, Anna Marcé Grau, Ana Laura Cazurro Gutierrez, Amaia Lasa Aranzasti Funding agency: Instituto de Salud Carlos III Funding: 125840 Reference: PI21/00248 Duration: 01/01/2022 - 30/06/2026
IP: Lucas Moreno Martín-Retortillo Collaborators: Aroa Soriano Fernández, Marta Garrido Pontnou, Miguel Segura Ginard, Lorena Valero Arrese, Raquel Hladun Alvaro, Elena Antima Martinez Saez, Marta Sese Faustino, Gabriela Guillén Burrieza, Josep Roma Castanyer, Andrea Vilaplana Blanes, Margarita Ortega Blanco, María Rosario Pérez- Torres Lobato, Asbleidy Carolina Torres Barbosa, Berta Campos Estela Funding agency: Instituto de Salud Carlos III Funding: 369260 Reference: PMP21/00073 Duration: 01/01/2022 - 31/12/2025
PMID: 40064026 Journal: HUMAN REPRODUCTION Year: 2025 Reference: Hum Reprod. 2025 Mar 10:deaf038. doi: 10.1093/humrep/deaf038. Impact factor: Publication type: Paper in international publication Authors: Camacho Soriano, Jessica; Castells-Sarret, Neus; Garcia-Arumi, Elena; Martinez, Pedro Antonio; Plaja, Alberto; Rey, Natalia; Rigola, Maria Angels; Sanchez-Duran, Maria Angeles; Serrano, Maria; Tizzano, Eduardo Fidel et al. DOI: 10.1093/humrep/deaf038
PMID: 38834294 Journal: JOURNAL OF MEDICAL GENETICS Year: 2024 Reference: J Med Genet. 2024 Jun 4:jmg-2024-109878. doi: 10.1136/jmg-2024-109878. Impact factor: Publication type: Paper in international publication Authors: Abuli, Anna; Antolin, Eugenia; Borrell, Antoni; Garcia Santiago, Fe; Garcia-Hoyos, Maria; Gomez Manjon, Irene; Gonzalez Gonzalez, Cristina; Maiz, Nerea; Rodriguez-Revenga, Laia; Suela, Javier et al. DOI: 10.1136/jmg-2024-109878
PMID: 38881224 Journal: MOVEMENT DISORDERS Year: 2024 Reference: Mov Disord. 2024 Jun 16. doi: 10.1002/mds.29881. Impact factor: Publication type: Paper in international publication Authors: Cazurro-Gutierrez, Ana; da Silva Cardoso, Juliana; De la Casa-Fages, Beatriz; Gomez-Andres, David; Katanaev, Vladimir L; Koval, Alexey; Larasati, Yonika A; Lasa-Aranzasti, Amaia; Miranda, Maria Concepcion; Moreno-Galdo, Antonio et al. DOI: 10.1002/mds.29881
PMID: 38903062 Journal: Year: 2024 Reference: Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Impact factor: Publication type: Paper in international publication Authors: Abdalla, Ebtesam; Abdelrazek, Ibrahim M; Adam, Ronja; Arlt, Annabelle; Averdunk, Luisa; Aykut, Ayca; Barakat, Tahsin Stefan; Bentzen, Heidi Beate; Bergant, Gaber; Bezieau, Stephane et al. DOI: 10.21203/rs.3.rs-4438861/v1
PMID: 38960581 Journal: JOURNAL OF MEDICAL GENETICS Year: 2024 Reference: J Med Genet. 2024 Jul 2:jmg-2024-109861. doi: 10.1136/jmg-2024-109861. Impact factor: Publication type: Paper in international publication Authors: Almoguera, Berta; Borras, Emma; Canas, Elena Gonzalez; Dewals, Wendy; Fernandez-Alvarez, Paula; Kosaki, Rika; Lasa-Aranzasti, Amaia; Loeys, Bart; Lopez-Grondona, Fermina; Munoz-Cabello, Patricia et al. DOI: 10.1136/jmg-2024-109861
PMID: 36446894 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2023 Reference: Eur J Hum Genet. 2023 Feb;31(2):223-230. doi: 10.1038/s41431-022-01240-5. Epub 2022 Nov 29. Impact factor: Publication type: Paper in international publication Authors: Abuli, Anna; Balmana, Judith; Campos, Berta; Campos, Berta; Carrasco, Estela; Codina-Sola, Marta; Costa-Roger, Mar; Cueto-Gonzalez, Anna Maria; Cusco, Ivon; Diez, Orland et al. DOI: 10.1038/s41431-022-01240-5
PMID: 36399134 Journal: GENETICS IN MEDICINE Year: 2023 Reference: Genet Med. 2023 Jan;25(1):135-142. doi: 10.1016/j.gim.2022.09.016. Epub 2022 Nov 18. Impact factor: Publication type: Paper in international publication Authors: Abdel-Salam, Ghada; Alavi, Shahryar; Alkuraya, Fowzan S; Bahreini, Amir; Baralle, Diana; Bawazeer, Shahad; Begtrup, Amber; Bengala, Mario; Bijlsma, Emilia K; Cali, Elisa et al. DOI: 10.1016/j.gim.2022.09.016
PMID: 36250278 Journal: CLINICAL GENETICS Year: 2023 Reference: Clin Genet. 2023 Feb;103(2):167-178. doi: 10.1111/cge.14248. Epub 2022 Oct 31. Impact factor: Publication type: Paper in international publication Authors: Balak, Chris; Casadesus, Francina Munell; Choi, Tae-Ik; Cueto-Gonzalez, Anna Maria; Kim, Cheol-Hee; Kim, Oc-Hee; Koeberl, Dwight; Narayanan, Vinodh; Ramsey, Keri; Riley, Kacie et al. DOI: 10.1111/cge.14248
PMID: 35486155 Journal: ARCHIVES OF GYNECOLOGY AND OBSTETRICS Year: 2023 Reference: Arch Gynecol Obstet. 2023 Jan;307(1):285-292. doi: 10.1007/s00404-022-06564-7. Epub 2022 Apr 29. Impact factor: Publication type: Paper in international publication Authors: Calero, Ines; Carreras, Elena; Castells-Sarret, Neus; Coello-Cahuao, Edgar; Garcia, Mayte Aviles; Higueras, Maria Teresa; Maiz, Nerea; Mediano-Vizuete, Carmen; Plaja Rustein, Alberto; Rodo, Carlota et al. DOI: 10.1007/s00404-022-06564-7
PMID: 36221013 Journal: CELLULAR AND MOLECULAR LIFE SCIENCES Year: 2022 Reference: Cell Mol Life Sci. 2022 Oct 11;79(11):546. doi: 10.1007/s00018-022-04557-y. Impact factor: Publication type: Paper in international publication Authors: Almazan-Moga, Ana; de Alava, Enrique; de Toledo, Josep Sanchez; Farrera-Sinfreu, Josep; Fernandez-Carneado, Jimena; Gallego, Soledad; Gallo-Oller, Gabriel; Garrido, Marta; Guillen, Gabriela; Hladun, Raquel et al. DOI: 10.1007/s00018-022-04557-y
PMID: 36228316 Journal: Endocrine Connections Year: 2022 Reference: Endocr Connect. 2022 Nov 14;11(12). pii: EC-22-0367. doi: 10.1530/EC-22-0367. Print 2022 Dec 1. Impact factor: Publication type: Paper in international publication Authors: Ahmed, S Faisal; Andonova, Silvia; Avbelj-Stefanija, Magdalena; Baronio, Federico; Bouligand, Jerome; Bruggenwirth, Hennie T; Cools, Martine; Davies, Justin H; De Baere, Elfride; Dzivite-Krisane, Iveta et al. DOI: 10.1530/EC-22-0367
PMID: 36303863 Journal: Frontiers in Endocrinology Year: 2022 Reference: Front Endocrinol (Lausanne). 2022 Oct 11;13:957969. doi: 10.3389/fendo.2022.957969. eCollection 2022. Impact factor: Publication type: Letter whit IF Authors: Baz-Redon, Noelia; Benito-Sanz, Sara; Camats-Tarruella, Nuria; Clemente, Maria; Fernandez-Cancio, Monica; Garrido, Marta; Moline, Teresa; Soler-Colomer, Laura; Yeste, Diego et al. DOI: 10.3389/fendo.2022.957969
PMID: 36314215 Journal: Journal of Neuromuscular Diseases Year: 2022 Reference: J Neuromuscul Dis. 2022;9(6):809-820. doi: 10.3233/JND-221538. Impact factor: Publication type: Paper in international publication Authors: Baranello, Giovanni; Christie-Brown, Vanessa; Germanenko, Olga; Gray, Allyson; Krstic, Marija; Lilien, Charlotte; Patel, Hinal; Scoto, Mariacristina; Servais, Laurent; Tizzano, Eduardo F et al. DOI: 10.3233/JND-221538
PMID: 33452396 Journal: Scientific Reports Year: 2021 Reference: Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Impact factor: Publication type: Paper in international publication Authors: Aguilera-Garcia, Domingo; Aguirre-Lamban, Jana; Aller, Elena; Allikmets, Rando; Almoguera, Berta; Alonso-Cerezo, Maria C; Antinolo, Guillermo; Arteche, Ana; Avila-Fernandez, Almudena; Ayuso, Carmen et al. DOI: 10.1038/s41598-021-81093-y
PMID: 34943558 Journal: Diagnostics Year: 2021 Reference: Diagnostics (Basel). 2021 Dec 9;11(12). pii: diagnostics11122320. doi: 10.3390/diagnostics11122320. Impact factor: Publication type: Review in international publication Authors: Abreu-Rodriguez, Irene; Abuli, Anna; Alvaro-Sanchez, Sara; Garrido-Navas, Maria Del Carmen; Serra-Juhe, Clara et al. DOI: 10.3390/diagnostics11122320
PMID: 34620959 Journal: Scientific Reports Year: 2021 Reference: Sci Rep. 2021 Oct 7;11(1):19922. doi: 10.1038/s41598-021-99496-2. Impact factor: Publication type: Paper in international publication Authors: Beckers, Pablo; Blasco-Perez, Laura; Boemer, Francois; Bours, Vincent; Caberg, Jean-Hubert; Dangouloff, Tamara; Daron, Aurore; Deconinck, Nicolas; Dewulf, Joseph; di Fiore, Samantha et al. DOI: 10.1038/s41598-021-99496-2
PMID: 34575869 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2021 Reference: Int J Mol Sci. 2021 Sep 8;22(18). pii: ijms22189705. doi: 10.3390/ijms22189705. Impact factor: Publication type: Paper in international publication Authors: Alias, Laura; Baena, Manel; Bernal, Sara; Berrueco, Ruben; Camero, M Dolores; De Pablo-Moreno, Juan A; Liras, Antonio; Pelaez, Irene; Serrano, Luis J; Tizzano, Eduardo F et al. DOI: 10.3390/ijms22189705
PMID: 33276656 Journal: International Journal of Environmental Research and Public Health Year: 2020 Reference: Int J Environ Res Public Health. 2020 Dec 2;17(23). pii: ijerph17238989. doi: 10.3390/ijerph17238989. Impact factor: Publication type: Paper in international publication Authors: Aranda-Reneo, Isaac; Durand-Zaleski, Isabelle; Litzkendorf, Svenja; Lopez-Bastida, Julio; Oliva-Moreno, Juan; Pena-Longobardo, Luz Maria; Tizzano, Eduardo F et al. DOI: 10.3390/ijerph17238989
PMID: 33254092 Journal: Stem Cell Research Year: 2020 Reference: Stem Cell Res. 2020 Dec;49:102092. doi: 10.1016/j.scr.2020.102092. Epub 2020 Nov 19. Impact factor: Publication type: Paper in international publication Authors: Aran, B; Corominas, R; Cusco, I; Flores, R; Kuebler, B; Perez-Jurado, L A; Veiga, A et al. DOI: 10.1016/j.scr.2020.102092
PMID: 32927819 Journal: International Journal of Environmental Research and Public Health Year: 2020 Reference: Int J Environ Res Public Health. 2020 Sep 10;17(18). pii: ijerph17186590. doi: 10.3390/ijerph17186590. Impact factor: Publication type: Paper in international publication Authors: Cortes, Javier; Llombart-Cussac, Antonio; Malfettone, Andrea; Miguel-Huguet, Bernat; Pardo, Almudena; Perez-Garcia, Jose Manuel; Perez-Lopez, Jordi; Sampayo-Cordero, Miguel et al. DOI: 10.3390/ijerph17186590
PMID: 32896090 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2020 Reference: Am J Med Genet A. 2020 Nov;182(11):2742-2745. doi: 10.1002/ajmg.a.61839. Epub 2020 Sep 8. Impact factor: Publication type: Letter or abstract Authors: Codina, Marta; Cusco, Ivon; Fernandez-Alvarez, Paula; Mur, Pilar; Tizzano, Eduardo F; Valenzuela, Irene; Valle, Laura et al. DOI: 10.1002/ajmg.a.61839
PMID: 31639024 Journal: Orphanet Journal of Rare Diseases Year: 2019 Reference: Orphanet J Rare Dis. 2019 Oct 21;14(1):230. doi: 10.1186/s13023-019-1202-6. Impact factor: Publication type: Paper in international publication Authors: Cortes, Javier; Llombart-Cussac, Antonio; Malfettone, Andrea; Miguel-Huguet, Bernat; Molto-Abad, Marc; Munoz-Delgado, Cecilia; Pardo-Mateos, Almudena; Perez-Garcia, Jose; Perez-Lopez, Jordi; Perez-Quintana, Marta et al. DOI: 10.1186/s13023-019-1202-6
PMID: 31604576 Journal: EARLY HUMAN DEVELOPMENT Year: 2019 Reference: Early Hum Dev. 2019 Nov;138:104851. doi: 10.1016/j.earlhumdev.2019.104851. Epub 2019 Oct 8. Impact factor: Publication type: Paper in international publication Authors: Tizzano, Eduardo F et al. DOI: 10.1016/j.earlhumdev.2019.104851
PMID: 31502291 Journal: ANNALS OF NEUROLOGY Year: 2019 Reference: Ann Neurol. 2019 Nov;86(5):803. doi: 10.1002/ana.25597. Epub 2019 Oct 3. Impact factor: Publication type: Letter or abstract Authors: Castiglioni, Claudia; Cusco, Ivon; Diaz, Astry B; Kulikowski, Leslie; Lozano-Arango, Andres; Mendonca, Rodrigo H; Paramonov, Ida; Reed, Umbertina C; Rocha, Antonio J; Silva, Andre M S et al. DOI: 10.1002/ana.25597
PMID: 31427717 Journal: Scientific Reports Year: 2019 Reference: Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. Impact factor: Publication type: Paper in international publication Authors: Aguirre, Francisco Javier; Aleu, Montserrat; Alonso, Xenia; Alsius, Merce; Amoros, Maria Inmaculada; Antinolo, Guillermo; Antonio, Victoria San; Aquino, Lourdes; Arellano, Carmen; Armstrong, Judith et al. DOI: 10.1038/s41598-019-48385-w
PMID: 30386343 Journal: Frontiers in Immunology Year: 2018 Reference: Front Immunol. 2018 Oct 16;9:2397. doi: 10.3389/fimmu.2018.02397. eCollection 2018. Impact factor: Publication type: Paper in international publication Authors: Bezdan, Daniela; Bosio, Mattia; Colobran, Roger; Franco-Jarava, Clara; Garcia-Prat, Marina; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Ossowski, Stephan; Plaja, Alberto; Riviere, Jacques G et al. DOI: 10.3389/fimmu.2018.02397
PMID: 30332465 Journal: PLoS One Year: 2018 Reference: PLoS One. 2018 Oct 17;13(10):e0205692. doi: 10.1371/journal.pone.0205692. eCollection 2018. Impact factor: Publication type: Paper in international publication Authors: Benet, Jordi; Borras, Nina; Corrales, Irene; Del Rey, Javier; Fernandez, Silvia F; Garcia, Iris; Garcia-Cruz, Raquel; Martinez-Pasarell, Olga; Navarro, Joaquima; Oliver-Bonet, Maria et al. DOI: 10.1371/journal.pone.0205692
PMID: 30219357 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2018 Reference: Eur J Paediatr Neurol. 2018 Nov;22(6):944-950. doi: 10.1016/j.ejpn.2018.08.009. Epub 2018 Sep 3. Impact factor: Publication type: Review in international publication Authors: Tizzano, Eduardo F; Zafeiriou, Dimitrios et al. DOI: 10.1016/j.ejpn.2018.08.009
PMID: 30086556 Journal: NEUROPEDIATRICS Year: 2018 Reference: Neuropediatrics. 2018 Oct;49(5):355. doi: 10.1055/s-0038-1667354. Epub 2018 Aug 7. Impact factor: Publication type: Letter or abstract Authors: Boronat, Susana; Macaya, Alfons et al. DOI: 10.1055/s-0038-1667354
PMID: 28489853 Journal: PLoS Genetics Year: 2017 Reference: PLoS Genet. 2017 May 10;13(5):e1006657. doi: 10.1371/journal.pgen.1006657. eCollection 2017 May. Impact factor: Publication type: Paper in international publication Authors: Argente, Jesus; Bou de Pieri, Francesc; Flores, Raquel; Gonzalez, Juan R; Martos-Moreno, Gabriel A; Perez-Jurado, Luis A; Rodriguez-Santiago, Benjamin; Serra-Juhe, Clara et al. DOI: 10.1371/journal.pgen.1006657
PMID: 27567161 Journal: BRAIN & DEVELOPMENT Year: 2017 Reference: Brain Dev. 2017 Jan;39(1):62-66. doi: 10.1016/j.braindev.2016.08.003. Epub 2016 Aug 25. Impact factor: Publication type: Paper in international publication Authors: Boronat, Susana; de Grazia, Jose; Del Campo, Miguel; Delgado, Ignacio; Sanchez-Montanez, Angel; Vazquez, Elida et al. DOI: 10.1016/j.braindev.2016.08.003
PMID: 27620364 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Jan;60(1):65-71. doi: 10.1016/j.ejmg.2016.09.003. Epub 2016 Sep 9. Impact factor: Publication type: Paper in international publication Authors: Boronat, S; Del Campo, M; Gomez, N; Jacas, C; Martinez-Ribot, L; Sanchez-Montanez, A; Vazquez, E et al. DOI: 10.1016/j.ejmg.2016.09.003
PMID: 27638326 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Jan;60(1):72-78. doi: 10.1016/j.ejmg.2016.09.012. Epub 2016 Sep 13. Impact factor: Publication type: Paper in international publication Authors: Boronat, S; Del Campo, M; Lainez, E; Mangado, L; Martinez-Ribot, L; Sanchez-Montanez, A; Vazquez, E; Vicente, M et al. DOI: 10.1016/j.ejmg.2016.09.012
PMID: 27605908 Journal: Frontiers in Molecular Neuroscience Year: 2016 Reference: Front Mol Neurosci. 2016 Aug 24;9:76. doi: 10.3389/fnmol.2016.00076. eCollection 2016. Impact factor: Publication type: Paper in international publication Authors: Aquilera, Jose; Calvo, Ana C; Herrando-Grabulosa, Mireia; Manzano, Raquel; Olivan, Sara; Osta, Rosario; Rando, Amaya; Tizzano, Eduardo F; Zaragoza, Pilar et al. DOI: 10.3389/fnmol.2016.00076
PMID: 26949155 Journal: EPILEPSY & BEHAVIOR Year: 2016 Reference: Epilepsy Behav. 2016 Apr;57(Pt A):133-6. doi: 10.1016/j.yebeh.2016.02.010. Epub 2016 Mar 3. Impact factor: Publication type: Paper in international publication Authors: Arkilo, Dimitrios; Boronat, Susana; Devinsky, Orrin; Jennesson, Melanie; Jeste, Shafali Spurling; Lerner, Jason T; Luchsinger, Kadi; Mudigoudar, Basanagoud; Sassower, Kenneth; Thibert, Ronald et al. DOI: 10.1016/j.yebeh.2016.02.010
PMID: 27510309 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2016 Reference: Eur J Paediatr Neurol. 2016 Nov;20(6):910-917. doi: 10.1016/j.ejpn.2016.07.017. Epub 2016 Jul 28. Impact factor: Publication type: Paper in international publication Authors: Alias, Laura; Araoz, Hilda Veronica; Bernal, Sara; Chertkoff, Lilien; Gravina, Luis Pablo; Medrano, Sofia; Monges, Soledad; Moresco, Angelica; Mozzoni, Julieta; Tizzano, Eduardo et al. DOI: 10.1016/j.ejpn.2016.07.017
PMID: 27317871 Journal: TOXICON Year: 2016 Reference: Toxicon. 2016 Sep 1;119:180-5. doi: 10.1016/j.toxicon.2016.06.010. Epub 2016 Jun 15. Impact factor: Publication type: Paper in international publication Authors: Barahona, Maximiliano; Barrientos, Cristian; Bustamante, Tamara; Del Campo, Miguel; Guerra, Matias; Hinzpeter, Jaime; Lagos, Nestor; Martinez, Alvaro; Palet, Miguel; Sepulveda, Joaquin M et al. DOI: 10.1016/j.toxicon.2016.06.010
PMID: 0004nopmid Journal: Prog Obstet Ginecol Year: 2015 Reference: 0004nopmid Impact factor: Publication type: Paper in national publication Authors: ; ; ; ; ; ; ; Plaja, Alberto et al. DOI: 10.1016/j.pog.2014.12.003
PMID: 25898808 Journal: AM J MED GENET A Year: 2015 Reference: Am J Med Genet A. 2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115. Epub 2015 Apr 21. Impact factor: Publication type: Paper in international publication Authors: Agarwal, Anil K; Amato, R Stephen; Del Campo, Miguel; Garg, Abhimanyu; Kircher, Martin et al. DOI: 10.1002/ajmg.a.37115
PMID: 25752415 Journal: MOL GENET METAB Year: 2015 Reference: Mol Genet Metab. 2015 Apr;114(4):580-3. doi: 10.1016/j.ymgme.2015.02.004. Epub 2015 Feb 21. Impact factor: Publication type: Paper in international publication Authors: Coll, M Josep; Gallego-Galindo, Luis; Garcia-Morillo, Salvador; Grau-Junyent, Josep M; Perez-Lopez, Jordi; Selva-O'Callaghan, Albert; Torralba-Cabeza, Miguel A; Vilardell-Tarres, Miquel et al. DOI: 10.1016/j.ymgme.2015.02.004
PMID: 26114395 Journal: SCI REP-UK Year: 2015 Reference: Sci Rep. 2015 Jun 26;5:11696. doi: 10.1038/srep11696. Impact factor: Publication type: Paper in international publication Authors: Alias, Laura; Also-Rallo, Eva; Bernal, Sara; Boza-Moran, Maria G; Denis, Cecile; Girard, Mathilde; Le Heron, Anita; Martinez-Hernandez, Rebeca; Tizzano, Eduardo F; Wanisch, Klaus et al. DOI: 10.1038/srep11696
PMID: 24162162 Journal: PEDIATRIC NEPHROLOGY Year: 2014 Reference: Pediatr Nephrol. 2014 Feb;29(2):223-34. doi: 10.1007/s00467-013-2657-7. Epub 2013 Oct 27. Impact factor: Publication type: Paper in international publication Authors: Ars, Elisabet; Ballarin, Jose; Camacho, Juan Antonio; Ejarque, Laia; Krall, Paola; Mendizabal, Santiago; Oliver, Artur; Pineda, Cristina; Ruiz, Patricia; Torra, Roser et al. DOI: 10.1007/s00467-013-2657-7
PMID: 24806300 Journal: JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY Year: 2014 Reference: J Neuropathol Exp Neurol. 2014 Jun;73(6):559-67. doi: 10.1097/NEN.0000000000000078. Impact factor: Publication type: Paper in international publication Authors: Alias, Laura; Bernal, Sara; Martinez-Hernandez, Rebeca; Tizzano, Eduardo F et al. DOI: 10.1097/NEN.0000000000000078
PMID: 24998634 Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Year: 2014 Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2014 Dec;15(7-8):563-8. doi: 10.3109/21678421.2014.929148. Epub 2014 Jul 7. Impact factor: Publication type: Paper in international publication Authors: Alias, Laura; Baiget, Montserrat; Barcelo, Maria J; Bernal, Sara; Martinez, Elisabeth; Martinez-Hernandez, Rebeca; Tizzano, Eduardo F et al. DOI: 10.3109/21678421.2014.929148
PMID: 24403048 Journal: HUMAN MOLECULAR GENETICS Year: 2014 Reference: Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. Impact factor: Publication type: Paper in international publication Authors: Amor, David J; Ansari, Morad; Atwal, Paldeep S; Bahlo, Melanie; Bando, Masashige; Bowman, Christine M; Bradley, Jacquelyn J; Braunholz, Diana; Brunner, Han G; Christianson, David W et al. DOI: 10.1093/hmg/ddu002
PMID: 23926580 Journal: Annals of Clinical Psychiatry Year: 2013 Reference: Ann Clin Psychiatry. 2013 Nov;25(4):243-9. Epub 2013 Aug 1. Impact factor: Publication type: Paper in international publication Authors: Boronat, Susana; Newberry, Peter; Shinnick, Julianna E; Thiele, Elizabeth A; Van Eeghen, Agnies M et al. DOI:
PMID: 23911796 Journal: GYNECOLOGIC ONCOLOGY Year: 2013 Reference: Gynecol Oncol. 2013 Nov;131(2):460-3. doi: 10.1016/j.ygyno.2013.07.104. Epub 2013 Jul 31. Impact factor: Publication type: Paper in international publication Authors: Balmana, Judith; Bonache, Sandra; Diez, Orland; Gutierrez-Enriquez, Sara; Masas, Miriam; Tenes, Anna et al. DOI: 10.1016/j.ygyno.2013.07.104
PMID: 23658034 Journal: Revista de neurologia Year: 2013 Reference: Rev Neurol. 2013 May 16;56(10):515-20. Impact factor: Publication type: Review in national publication Authors: Alvarez-Sabin, J; Boronat-Guerrero, S; Hernandez-Vara, J; Salvado, M et al. DOI:
PMID: 23639959 Journal: GENE Year: 2013 Reference: Gene. 2013 Jul 25;524(2):381-5. doi: 10.1016/j.gene.2013.04.029. Epub 2013 Apr 29. Impact factor: Publication type: Paper in international publication Authors: Barros-Nunez, Patricio; Cordova-Fletes, Carlos; Neira, Vivian Alejandra; Ortiz-Lopez, Rocio; Plaja, Alberto; Rojas-Martinez, Augusto; Romero-Espinoza, Pavel et al. DOI: 10.1016/j.gene.2013.04.029
PMID: 22758650 Journal: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY Year: 2012 Reference: Pediatr Dev Pathol. 2012 Sep-Oct;15(5):397-402. doi: 10.2350/12-05-1193-CR.1. Epub 2012 Jul 3. Impact factor: Publication type: Review in international publication Authors: ; ; ; ; ; et al. DOI: 10.2350/12-05-1193-CR.1
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The results show that, in some patients with mutations in the X chromosome, the healthy gene is inactivated and the mutated gene manifests itself, which favors the onset of the disease.
On January 24, a session was held to explain what these three-dimensional models are and what advantages they have, as well as to review some of their applications in research.
The research has studied the structure and function of proteins related to this degenerative disease and their interaction with SMN2 messenger RNA (mRNA), which is key to the evolution of patients.
