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:
PMID: 39369315 Journal: GENETICS IN MEDICINE Year: 2024 Reference: Genet Med. 2024 Oct 2:101288. doi: 10.1016/j.gim.2024.101288. Impact factor: Publication type: Paper in international publication Authors: Codina-Sola, Marta; Cueto-Gonzalez, Anna; Escobar, Mar; Garcia-Arumi, Elena; Lasa-Aranzasti, Amaia; Leno-Colorado, Jordi; Masas, Miriam; Masotto, Barbara; Tizzano, Eduardo F; Trujillano, Laura et al. DOI: 10.1016/j.gim.2024.101288
PMID: 39484914 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2024 Reference: Am J Med Genet A. 2024 Nov 1:e63905. doi: 10.1002/ajmg.a.63905. Impact factor: Publication type: Paper in international publication Authors: Arumi, Elena Garcia; Barbero, Ana Isabel Sanchez; Cueto-Gonzalez, Anna Maria; Fernandez-Alvarez, Paula; Lasa-Aranzasti, Amaia; Masotto, Barbara; Tizzano, Eduardo F; Trujillano, Laura; Valenzuela, Irene; Vazquez, Elida et al. DOI: 10.1002/ajmg.a.63905
PMID: 39548747 Journal: MOVEMENT DISORDERS Year: 2024 Reference: Mov Disord. 2024 Nov;39(11):2125-2126. doi: 10.1002/mds.30018. Impact factor: Publication type: Other (letters to the editor, abstracts, corrigendum, etc.) Authors: Katanaev, Vladimir L; Lasa-Aranzasti, Amaia; Perez-Duenas, Belen; Solis, Gonzalo P et al. DOI: 10.1002/mds.30018
PMID: 39553472 Journal: Frontiers in Genetics Year: 2024 Reference: Front Genet. 2024 Nov 1;15:1472543. doi: 10.3389/fgene.2024.1472543. eCollection 2024. Impact factor: Publication type: Paper in international publication Authors: Arnedo, Maria; Ayerza-Casas, Ariadna; Bestetti, Ilaria; Beygo, Jasmin; Del Rincon, Julia; Depienne, Christel; Finelli, Palma; Gil-Salvador, Marta; Kaiser, Frank J; Kaya, Sabine et al. DOI: 10.3389/fgene.2024.1472543
PMID: 36976648 Journal: JOURNAL OF CLINICAL INVESTIGATION Year: 2023 Reference: J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. Impact factor: Publication type: Paper in international publication Authors: Abriata, Luciano A; Adeyemi, Adekemi M; Armengol, Lluis; Bain, Jennifer M; Beier, Christoph P; Bermejo-Sanchez, Eva; Bhat, Musadiq A; Blyth, Moira; Bocquete, Jean-Philippe; Bourgeat, Samuel et al. DOI: 10.1172/JCI165019
PMID: 36987741 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2023 Reference: Am J Med Genet A. 2023 Jul;191(7):1722-1740. doi: 10.1002/ajmg.a.63194. Epub 2023 Mar 29. Impact factor: Publication type: Paper in international publication Authors: Alonso-Luengo, Olga; Anderlid, Britt-Marie; Angelovska, Elena Sukarova; Atton, Giles; Baralle, Diana; Bergman, Anke K; Boiroux, Pauline; Chaudhry, Ayeshah; Curie, Aurore; Debant, Anne et al. DOI: 10.1002/ajmg.a.63194
PMID: 37053555 Journal: BLOOD Year: 2023 Reference: Blood. 2023 Apr 13:blood.2022019543. doi: 10.1182/blood.2022019543. Impact factor: Publication type: Paper in international publication Authors: Andres, Mara; Astigarraga, Itziar; Balague, Olga; Campo, Elias; Castrejon-de-Anta, Natalia; Celis, Veronica; Colomer, Dolors; Diaz Crespo, Francisco Javier; Fernandez, Alba; Frigola, Gerard et al. DOI: 10.1182/blood.2022019543
PMID: 37303278 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2023 Reference: Am J Med Genet A. 2023 Jun 11. doi: 10.1002/ajmg.a.63313. Impact factor: Publication type: Letter or abstract Authors: Ansari, M; Ashraf, T; Calder, A; Cueto-Gonzalez, Anna M feminine; Day, M; Fernandez Alvarez, P; Fernandez Alvarez, P; Foster, A; Grimes, H; Lahiri, N et al. DOI: 10.1002/ajmg.a.63313
PMID: 35872606 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS Year: 2022 Reference: Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):231-242. doi: 10.1002/ajmg.c.31989. Epub 2022 Jul 24. Impact factor: Publication type: Paper in international publication Authors: Agarwal, Umber; Aggarwal, Shagun; Beneteau, Claire; Cacheiro, Pilar; Carmody, Leigh C; Chaudhari, Bimal P; Collardeau-Frachon, Sophie; Dempsey, Esther A; Dhombres, Ferdinand; Dufke, Andreas et al. DOI: 10.1002/ajmg.c.31989
PMID: 35861666 Journal: HUMAN MOLECULAR GENETICS Year: 2022 Reference: Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Impact factor: Publication type: Paper in international publication Authors: Ariani, Francesca; Aristidou, Constantia; Baldassarri, Margherita; Battini, Roberta; Benedicenti, Francesco; Brunetti-Pierri, Nicola; Bruno, Irene; Bruno, Lucia Pia; Bruttini, Mirella; Buoni, Sabrina et al. DOI: 10.1093/hmg/ddac167
PMID: 35837313 Journal: Frontiers in Endocrinology Year: 2022 Reference: Front Endocrinol (Lausanne). 2022 Jun 28;13:884107. doi: 10.3389/fendo.2022.884107. eCollection 2022. Impact factor: Publication type: Letter or abstract Authors: Aguilar-Riera, Cristina; Camats-Tarruella, Nuria; Canestrino, Gennaro; Clemente, Maria; Fernandez-Alvarez, Paula; Yeste, Diego et al. DOI: 10.3389/fendo.2022.884107
PMID: 35833929 Journal: GENETICS IN MEDICINE Year: 2022 Reference: Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14. Impact factor: Publication type: Paper in international publication Authors: Angle, Brad; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Chatron, Nicolas; de Boer, Elke; Denomme-Pichon, Anne-Sophie; Devinsky, Orrin; Dingemans, Alexander J M; Dubourg, Christele et al. DOI: 10.1016/j.gim.2022.06.007
PMID: 34021018 Journal: Cold Spring Harbor molecular case studies Year: 2021 Reference: Cold Spring Harb Mol Case Stud. 2021 Aug 2;7(4). pii: mcs.a006092. doi: 10.1101/mcs.a006092. Print 2021 Aug. Impact factor: Publication type: Paper in international publication Authors: Bellus, Gary; Chung, Wendy K; Garrity, Madison; Isidor, Bertrand; Kavus, Haluk; Larson, Austin; Mignot, Cyril; Munnich, Arnold; Reed, Sara; RojasVasquez, Marta et al. DOI: 10.1101/mcs.a006092
PMID: 33942433 Journal: HUMAN MUTATION Year: 2021 Reference: Hum Mutat. 2021 Jul;42(7):862-876. doi: 10.1002/humu.24211. Epub 2021 May 16. Impact factor: Publication type: Paper in international publication Authors: Acyinena, Alicia P; Blaser, Susan; Brandau, Oliver; Chapman, Gavin; Chong, Karen; Cueto-Gonzalez, Anna M; Devine, Walter P; Dunwoodie, Sally L; Dupuis, Lucie; Elliott, Alison M et al. DOI: 10.1002/humu.24211
PMID: 33640649 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2021 Reference: Eur J Paediatr Neurol. 2021 Jan;30:103-104. doi: 10.1016/j.ejpn.2020.12.005. Epub 2020 Dec 14. Impact factor: Publication type: Letter or abstract Authors: Butoianu, Nina; Goemans, Nathalie; Haberlova, Jana; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; Muntoni, Francesco; Quijano-Roy, Susana; Sejersen, Thomas; Servais, Laurent et al. DOI: 10.1016/j.ejpn.2020.12.005
PMID: 33777642 Journal: European journal of pediatric surgery reports Year: 2021 Reference: European J Pediatr Surg Rep. 2021 Jan;9(1):e28-e32. doi: 10.1055/s-0041-1726347. Epub 2021 Mar 25. Impact factor: Publication type: Letter or abstract Authors: Ahmad, Hira; Amengual, Isabel; Bueno, Alba; Garrido-Pontnou, Marta; Guerra-Pastrian, Laura; Langer, Jacob; Levitt, Marc A; Montalvo, Cristina; Vilanova-Sanchez, Alejandra; Wood, Richard J et al. DOI: 10.1055/s-0041-1726347
PMID: 31761904 Journal: GENETICS IN MEDICINE Year: 2020 Reference: Genet Med. 2020 Mar;22(3):610-621. doi: 10.1038/s41436-019-0698-4. Epub 2019 Nov 25. Impact factor: Publication type: Paper in international publication Authors: Alameer, Seham; Baric, Ivo; Bozbulut, Neslihan Eksi; Broue, Pierre; Bulut, Derya; Church, Joseph A; Crushell, Ellen; Dalgic, Buket; Das, Anibh M; Dick, Anke et al. DOI: 10.1038/s41436-019-0698-4
PMID: 32240714 Journal: JOURNAL OF HEPATOLOGY Year: 2020 Reference: J Hepatol. 2020 Aug;73(2):328-341. doi: 10.1016/j.jhep.2020.03.025. Epub 2020 Mar 30. Impact factor: Publication type: Paper in international publication Authors: Abril-Fornaguera, Jordi; Akers, Nicholas; Armengol, Carolina; Arnal, Magdalena; Bajciova, Viera; Belendez, Cristina; Blanco, Julia; Branchereau, Sophie; Buendia, Marie Annick; Cairo, Stefano et al. DOI: 10.1016/j.jhep.2020.03.025
PMID: 31685998 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2020 Reference: Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Impact factor: Publication type: Paper in international publication Authors: Acosta, Angelina; Alarcon, Pablo; Albiach, Vicente; Alix, Alfredo Garcia; Alonso, Almudena; Alvarez, Sara; Antolin, Eugenia; Aoki, Yoko; Arberas, Claudia; Arcas, Javier et al. DOI: 10.1038/s41431-019-0485-3
PMID: 32173072 Journal: MEDICINA CLINICA Year: 2020 Reference: Med Clin (Barc). 2020 Jul 24;155(2):77-81. doi: 10.1016/j.medcli.2020.01.001. Epub 2020 Mar 13. Impact factor: Publication type: Paper in national publication Authors: Balmana, Judith; Lopez-Fernandez, Adria; Serra-Juhe, Clara; Tizzano, Eduardo F et al. DOI: 10.1016/j.medcli.2020.01.001
PMID: 30771526 Journal: CLINICAL MICROBIOLOGY AND INFECTION Year: 2019 Reference: Clin Microbiol Infect. 2019 May;25(5):633.e5-633.e9. doi: 10.1016/j.cmi.2019.02.008. Epub 2019 Feb 14. Impact factor: Publication type: Paper in international publication Authors: Anton, Andres; Arevalo, Silvia; Carreras, Elena; Frick, Antoinette; Garcia-Ruiz, Itziar; Garrido, Marta; Maiz, Nerea; Mendez, Elida Vazquez; Pumarola, Tomas; Rando, Ariadna et al. DOI: 10.1016/j.cmi.2019.02.008
PMID: 30770808 Journal: Nature Communications Year: 2019 Reference: Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9. Impact factor: Publication type: Paper in international publication Authors: Aglan, Mona; Bolduc, Veronique; Bonnemann, Carsten G; Caparros-Martin, Jose A; Carvajal, Jaime J; Chao, Katherine Ru-Yui; Donkervoort, Sandra; Estan, Maria Cristina; Esteban, Maria Isabel; Fernandez-Nunez, Elisa et al. DOI: 10.1038/s41467-019-08548-9
PMID: 30760090 Journal: LUPUS Year: 2019 Reference: Lupus. 2019 Mar;28(3):396-405. doi: 10.1177/0961203319828521. Epub 2019 Feb 13. Impact factor: Publication type: Paper in international publication Authors: Agraz, I; Alvarez-Rios, A M; Cortes-Hernandez, J; Garcia-Vives, E; Moline, T; Ordi-Ros, J; Sole, C; Vidal, M et al. DOI: 10.1177/0961203319828521
PMID: 30488522 Journal: HUMAN MUTATION Year: 2019 Reference: Hum Mutat. 2019 Mar;40(3):326-334. doi: 10.1002/humu.23692. Epub 2018 Dec 10. Impact factor: Publication type: Paper in international publication Authors: Amaral, Margarida D; Awatade, Nikhil T; Azevedo, Pilar; Barreto, Celeste; Beekman, Jeffrey; Bertuzzo, Carmen; Calucho, Maite; Cavaco, Jose; Clarke, Luka A; Felicio, Veronica M et al. DOI: 10.1002/humu.23692
PMID: 29433793 Journal: NEUROMUSCULAR DISORDERS Year: 2018 Reference: Neuromuscul Disord. 2018 Mar;28(3):208-215. doi: 10.1016/j.nmd.2018.01.003. Epub 2018 Jan 11. Impact factor: Publication type: Paper in international publication Authors: Alias, Laura; Aller, Elena; Bernal, Sara; Borrego, Salud; Calucho, Maite; Cusco, Ivon; Fernandez, Raquel M; Fuentes-Prior, Pablo; Hernandez-Chico, Concepcion; March, Francesca et al. DOI: 10.1016/j.nmd.2018.01.003
PMID: 29336994 Journal: MOLECULAR GENETICS AND METABOLISM Year: 2018 Reference: Mol Genet Metab. 2018 Feb;123(2):69-75. doi: 10.1016/j.ymgme.2018.01.002. Epub 2018 Jan 5. Impact factor: Publication type: Review in national publication Authors: Miguel-Huguet, Bernat; Molto-Abad, Marc; Munoz-Delgado, Cecilia; Pardo-Mateos, Almudena; Perez-Lopez, Jordi; Sampayo-Cordero, Miguel et al. DOI: 10.1016/j.ymgme.2018.01.002
PMID: 28732796 Journal: REVISTA CLINICA ESPANOLA Year: 2018 Reference: Rev Clin Esp. 2018 Jan - Feb;218(1):17-21. doi: 10.1016/j.rce.2017.06.005. Epub 2017 Jul 18. Impact factor: Publication type: Paper in national publication Authors: Couce, M L; Del Toro, M; Garcia-Jimenez, M C; Gutierrez-Solana, L; Hermida-Ameijeiras, A; Lopez-Rodriguez, M; Perez-Lopez, J; Torralba, M A et al. DOI: 10.1016/j.rce.2017.06.005
PMID: 29307792 Journal: European Journal of Medical Genetics Year: 2018 Reference: Eur J Med Genet. 2018 May;61(5):269-272. doi: 10.1016/j.ejmg.2018.01.001. Epub 2018 Jan 4. Impact factor: Publication type: Paper in international publication Authors: Ariceta, Gema; Fernandez-Alvarez, Paula; Garcia-Arumi, Elena; Plaja, Alberto; Sabate-Rotes, Anna; Tizzano, Eduardo; Valenzuela, Irene; Vendrell, Teresa et al. DOI: 10.1016/j.ejmg.2018.01.001
PMID: 28410878 Journal: MOLECULAR GENETICS AND METABOLISM Year: 2017 Reference: Mol Genet Metab. 2017 Jun;121(2):138-149. doi: 10.1016/j.ymgme.2017.04.004. Epub 2017 Apr 9. Impact factor: Publication type: Paper in international publication Authors: Hermida-Ameijeiras, Alvaro; Lopez-Rodriguez, Monica; Molto-Abad, Marc; Morales-Conejo, Montserrat; Perez-Lopez, Jordi et al. DOI: 10.1016/j.ymgme.2017.04.004
PMID: 28376482 Journal: Sexual Development Year: 2017 Reference: Sex Dev. 2017;11(2):70-77. doi: 10.1159/000468160. Epub 2017 Apr 4. Impact factor: Publication type: Paper in international publication Authors: Arnhold, Ivo J P; Audi, Laura; Bilharinho Mendonca, Berenice; Carrascosa, Antonio; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Garcia-Garcia, Emilio; Gonzalez-Cejudo, Carmen; Guerra-Junior, Gil; Mangas-Cruz, Miguel-Angel et al. DOI: 10.1159/000468160
PMID: 28344185 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Jun;60(6):303-307. doi: 10.1016/j.ejmg.2017.03.010. Epub 2017 Mar 24. Impact factor: Publication type: Paper in international publication Authors: Fernandez-Alvarez, Paula; Giralt, Gemma; Munell, Francina; Sanchez-Montanez, Angel; Tizzano, Eduardo; Valenzuela, Irene; Vendrell, Teresa et al. DOI: 10.1016/j.ejmg.2017.03.010
PMID: 28281571 Journal: Scientific Reports Year: 2017 Reference: Sci Rep. 2017 Mar 10;7:44138. doi: 10.1038/srep44138. Impact factor: Publication type: Paper in international publication Authors: Balcells, Susana; Bosio, Mattia; Company, Carlos; Cormand, Bru; Cozzuto, Luca; Cueto-Gonzalez, Anna Maria; Franco-Valls, Hector; Grinberg, Daniel; Hecht, Jochen; Montfort, Magda et al. DOI: 10.1038/srep44138
PMID: 25194980 Journal: MED CLIN-BARCELONA Year: 2015 Reference: Med Clin (Barc). 2015 Jan 20;144(2):67-72. doi: 10.1016/j.medcli.2014.06.009. Epub 2014 Sep 4. Impact factor: Publication type: Paper in national publication Authors: Aoki, Yoko; Carcavilla, Atilano; Ezquieta, Begona; Garcia-Minaur, Sixto; Gonzalez-Meneses, Antonio; Grinberg, Daniel; Guillen-Navarro, Encarna; Perez-Aytes, Antonio; Pinto, Isabel; Vendrell, Teresa et al. DOI: 10.1016/j.medcli.2014.06.009
PMID: 25600024 Journal: ENFERM INFEC MICR CL Year: 2015 Reference: Enferm Infecc Microbiol Clin. 2015 Oct;33(8):536-8. doi: 10.1016/j.eimc.2014.10.012. Epub 2015 Jan 16. Impact factor: Publication type: Paper in national publication Authors: Albero, Inmaculada; Bartolome, Rosa; Campins-Marti, Magda; de Arquer, Maria; Ribes, Carmen; Vilca, Luz Maria et al. DOI: 10.1016/j.eimc.2014.10.012
PMID: 25969726 Journal: Molecular Autism Year: 2015 Reference: Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015. Impact factor: 5.413 Publication type: Paper in international publication Authors: Gabau, Elisabeth, Botella, Maria Pilar, Gutierrez-Arumi, Armand, Antinolo, Guillermo, Perez-Jurado, Luis Alberto, Cusco, Ivon, Gener, Blanca, Del Campo, Miguel, Aznar-Lain, Gemma, Rigau, Maria et al. DOI: 10.1186/s13229-015-0017-0
PMID: 0003nopmid Journal: Prog Obstet Ginecol Year: 2015 Reference: Progresos de Obstetricia y Ginecología, 2015-12-01, Volumen 58, Número 10, Páginas 470-473 Impact factor: 0 Publication type: Paper in national publication Authors: Plaja Rustein, Alberto, Campo Casanelles, Miguel del, Casals, Elena, Figueras, Francesc, Chica, Rosana de la, Armengol, Lluis, Cirigliano , Vincenzo, Borrell, Antoni et al. DOI: 10.1016/j.pog.2015.05.003
PMID: 24582125 Journal: ANALES DE PEDIATRIA Year: 2014 Reference: An Pediatr (Barc). 2014 Dec;81(6):e34-5. doi: 10.1016/j.anpedi.2013.11.009. Epub 2014 Feb 26. Impact factor: Publication type: Letter whit IF Authors: Balcells, J; Ferreres, J C; Gil, L; Ruiz-Campillo, C W; Sanchez-de-Toledo, J; Vendrell, T et al. DOI: 10.1016/j.anpedi.2013.11.009
PMID: 24563179 Journal: EUR RADIOL Year: 2014 Reference: Eur Radiol. 2014 May;24(5):1153-65. doi: 10.1007/s00330-014-3114-0. Epub 2014 Feb 23. Impact factor: 4.338 Publication type: Paper in international publication Authors: Nievelstein, Rutger A J, Stoker, Jaap, Bierings, Marc B, Hobbelink, Monique G, Beek, Frederik J A, Littooij, Annemieke S, Kwee, Thomas C, Barber, Ignasi, Granata, Claudio, Vermoolen, Malou A et al. DOI: 10.1007/s00330-014-3114-0
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PMID: 24403048 Journal: HUM MOL GENET Year: 2014 Reference: Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. Impact factor: 6.677 Publication type: Paper in international publication Authors: Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J et al. DOI: 10.1093/hmg/ddu002
PMID: 23320472 Journal: CLINICAL GENETICS Year: 2013 Reference: Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Impact factor: 3.944 Publication type: Paper in international publication Authors: Del Campo, Miguel, Makrythanasis, Periklis, van Bon, Bregje W, Steehouwer, Marloes, Rodriguez-Santiago, Benjamin, Simpson, Michael, Dias, Patricia, Anderlid, Britt Marie, Arts, Peer, Bhat, Meenakshi et al. DOI: 10.1111/cge.12081
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PMID: 21415192 Journal: RADIOGRAPHICS Year: 2011 Reference: Radiographics. 2011 Mar-Apr;31(2):465-82. Impact factor: 2.76 Publication type: Paper in international publication Authors: Garcia-Pena, Pilar, Barber, Ignasi, Toran, Nuria, Lucaya, Javier, Enriquez, Goya, Boixadera, Helena et al. DOI: 10.1148/rg.312095160
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.
