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 Pediatric Neurology Research group is mainly involved in the study of genetic diseases of the developing nervous system. The main emphasis is on paroxysmal neurological disorders and neuromuscular disorders. A common theme across the different projects, besides the identification of the molecular basis of several of these rare disorders, is the investigation of molecules involved in their pathophysiological mechanisms and the effective translation of these findings into the fields of molecular diagnosis, genetic counselling and newly developed gene or drug therapies.
Neurogenetics of paroxysmal neurological disorders (neuronal channelopathies)
Genetic and epigenetic basis of neural tube defects and Chiari type I malformation
Clinical researchers have collected samples from more than 2000 patients with paroxysmal neurological disorders (migraine, epilepsy, paroxysmal movement disorders and episodic ataxias) and over 300 patients with Chiari I malformation. Current strategies include whole-genome linkage analysis, exome sequencing, customized array re-sequencing, SNP-based genetic association studies and expression analysis in fetal tissues. The goals in this area are:
- to identify novel genetic variants responsible for these diseases
- to establish a correlation between the genetic variants and the clinical forms of the disease
- to perform functional studies of the mutant proteins
- to design an animal model of cortical spreading depression, with emphasis in epigenetic modification of susceptibility genes.
IP: Alfons Macaya Ruíz
1. DUCHENNE MUSCULAR DYSTROPHY (DMD)
THERAPEUTIC POTENTIAL OF ESTROGENS IN DMD, EFFECTS AND MECHANISMS OF ACTION ON SATELLITE CELLS AND MACROPHAGES
We have found that estradiol has beneficial effects on myogenesis and inflammation. We aim to characterize the estradiol effects on satellite cells and their interaction with macrophages and the ability of estrogens to increase the efficiency of cell therapy based on satellite cell transplant to restore the expression of dystrophin in the dystrophic muscle in vivo.
IN VITRO TESTING OF GENE THERAPIES TO REPAIR DYSTROPHIN IN HUMAN MYOBLASTS AND DEVELOPMENT OF NANIOPARTICLES FOR MUSCLE DELIVERY
Compounds with readthrough activity are currently used for DMD patients with nonsense mutations with highly variable results. We are testing the efficacy of several drugs with read-through action (PTC124, RTC14, RTC13, Geneticin) to restore protein levels in myoblasts and differentiated myotubes obtained from DMD patients carrying nonsense mutations with variable codon composition and different location.
We are testing the possibility to use modified nanopaticles for muscle delivery of specific drugs.
2. USE OF NEW TECHNOLOGIES FOR DIAGNOSTIC OPTIMISATION IN INHERITED MYOPATHIES
We used exome capture and massive sequencing technologies for the diagnosis of patients with neuromuscular disorders, to deliver a proof-of-concept of the superior diagnostic accuracy, speed and costeffectiveness of these novel technologies over current approaches.
IP: Francina Munell Casadesus
IP: Arnau Llauradó Gayete Collaborators: Josep Quer Sivila, Laura Costa Comellas Funding agency: Instituto de Salud Carlos III Funding: 480370 Reference: PMPER24/00018 Duration: 01/01/2025 - 31/12/2026
IP: Belen Perez Dueñas Collaborators: Anna Marcé Grau, Manel Alberich Jordà, Ana Laura Cazurro Gutierrez, Lucy Dougherty de Miguel Funding agency: Instituto de Salud Carlos III Funding: 140000 Reference: PI24/01083 Duration: 01/01/2025 - 31/12/2027
IP: Ramon Martí Seves Collaborators: Alfons Macaya Ruíz, Lucas Moreno Martín-Retortillo Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 0.01 Reference: 2022 XARDI 00006 Duration: 01/01/2023 - 31/12/2025
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
PMID: 38505260 Journal: Frontiers in Cell and Developmental Biology Year: 2024 Reference: Front Cell Dev Biol. 2024 Mar 5;12:1321282. doi: 10.3389/fcell.2024.1321282. eCollection 2024. Impact factor: Publication type: Paper in international publication Authors: Alonso, Xenia; Alonso-Colmenero, Itziar; Bayes, Alex; Camacho, Ana; Camino Leon, Rafael; Campistol Plana, Jaume; Cazorla, Maria Rosario; Cueto-Gonzalez, Anna Ma; Del Castillo-Berges, Diego; Fernandez-Jaen, Alberto et al. DOI: 10.3389/fcell.2024.1321282
PMID: 39312004 Journal: JOURNAL OF CLINICAL IMMUNOLOGY Year: 2024 Reference: J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. Impact factor: Publication type: Paper in international publication Authors: Adam, Margaret P; Adams, David; Amel, Hassan; Baple, Emma L; Barberis, Matteo; Barredo, Estibaliz; Bhatia, Sanil; Biondi, Andrea; Borkhardt, Arndt; Brusco, Alfredo et al. DOI: 10.1007/s10875-024-01793-8
PMID: 36265282 Journal: BLOOD CELLS MOLECULES AND DISEASES Year: 2023 Reference: Blood Cells Mol Dis. 2023 Jan;98:102704. doi: 10.1016/j.bcmd.2022.102704. Epub 2022 Oct 5. Impact factor: Publication type: Paper in international publication Authors: Agraz-Pamplona, Irene; Arranz-Amo, Jose Antonio; Barquin-Del-Pino, Raquel; Camprodon-Gomez, Maria; Carnicer-Caceres, Clara; Castillo-Ribelles, Laura; Del-Toro-Riera, Mireia; Felipe-Rucian, Ana; Garcia-Serra, Anna; Hernandez-Vara, Jorge et al. DOI: 10.1016/j.bcmd.2022.102704
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: 36318112 Journal: EPILEPSIA Year: 2023 Reference: Epilepsia. 2023 Feb;64(2):443-455. doi: 10.1111/epi.17455. Epub 2022 Dec 5. Impact factor: Publication type: Paper in international publication Authors: Accogli, Andrea; Alesandrini, Marie; Au, P Y Billie; Blevins, Amy; Cogne, Benjamin; Efthymiou, Stephanie; Fortuna, Sara; Galassi-Deforie, Valentina; Hanna, Michael G; Houlden, Henry et al. DOI: 10.1111/epi.17455
PMID: 35723607 Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY Year: 2023 Reference: Dev Med Child Neurol. 2023 Feb;65(2):207-214. doi: 10.1111/dmcn.15298. Epub 2022 Jun 20. Impact factor: Publication type: Paper in international publication Authors: Alvarez, Ramiro; Carvalho, Joao; Cazurro-Gutierrez, Ana; Correa-Vela, Marta; Ferrero-Turrion, Julia; Gonzalez, Victoria; Macaya-Ruiz, Alfons; Marce-Grau, Anna; Moreno, Antonio; Perez-Duenas, Belen et al. DOI: 10.1111/dmcn.15298
PMID: 35462939 Journal: Frontiers in Pharmacology Year: 2022 Reference: Front Pharmacol. 2022 Apr 8;13:802334. doi: 10.3389/fphar.2022.802334. eCollection 2022. Impact factor: Publication type: Paper in international publication Authors: Feucht, Martha; Hahn, Andreas; Hirschberg, Yulia; Kingswood, John Chris; Maamari, Ricardo; Macaya, Alfons; Ridolfi, Antonia; Ruiz-Falco Rojas, Maria Luz; Wilken, Bernd et al. DOI: 10.3389/fphar.2022.802334
PMID: 36247910 Journal: Movement Disorders Clinical Practice Year: 2022 Reference: Mov Disord Clin Pract. 2022 Aug 22;9(7):979-982. doi: 10.1002/mdc3.13528. eCollection 2022 Oct. Impact factor: Publication type: Letter or abstract Authors: Macaya, Alfons; Martorell, Loreto; Ortigoza-Escobar, Juan Dario; Perez-Duenas, Belen et al. DOI: 10.1002/mdc3.13528
PMID: 36291474 Journal: Children-Basel Year: 2022 Reference: Children (Basel). 2022 Oct 9;9(10). pii: children9101537. doi: 10.3390/children9101537. Impact factor: Publication type: Paper in international publication Authors: Espiau, Maria; Felipe-Rucian, Ana; Frick, Marie Antoinette; Giaquinto, Carlo; Pieras, Maria; Rodo, Carlota; Romani, Natalia; Silgado, Aroa; Soler-Palacin, Pere; Soriano-Arandes, Antoni et al. DOI: 10.3390/children9101537
PMID: 36142184 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2022 Reference: Int J Mol Sci. 2022 Sep 7;23(18). pii: ijms231810274. doi: 10.3390/ijms231810274. Impact factor: Publication type: Letter or abstract Authors: Bertini, Enrico; Bosco, Luca; Costa Comellas, Laura; D'Amico, Adele; Fattori, Fabiana; Leone, Daniela; Mercuri, Eugenio; Monforte, Mauro; Pane, Marika et al. DOI: 10.3390/ijms231810274
PMID: 34429526 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2021 Reference: Eur J Hum Genet. 2021 Sep;29(9):1462-1465. doi: 10.1038/s41431-021-00935-5. Impact factor: Publication type: Letter or abstract Authors: 't Hoen, Peter A C; Alexander, Elizabeth; Allamand, Valerie; Aretz, Stefan; Atalaia, Antonio; Baets, Jonathan; Balicza, Peter; Balicza, Peter; Banfi, Sandro; Banka, Siddharth et al. DOI: 10.1038/s41431-021-00935-5
PMID: 34493777 Journal: Scientific Reports Year: 2021 Reference: Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y. Impact factor: Publication type: Letter or abstract Authors: Aguirre, Francisco Javier; Aleu, Montserrat; Alonso, Xenia; Alsius, Merce; Antinolo, Guillermo; Antonio, Victoria San; Aquino, Lourdes; Arellano, Carmen; Armstrong, Judith; Arriola, Gema et al. DOI: 10.1038/s41598-021-97262-y
PMID: 33972714 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2021 Reference: Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Impact factor: Publication type: Letter whit IF Authors: 't Hoen, Peter A C; Alexander, Elizabeth; Allamand, Valerie; Aretz, Stefan; Atalaia, Antonio; Baets, Jonathan; Balicza, Peter; Balicza, Peter; Banfi, Sandro; Banka, Siddharth et al. DOI: 10.1038/s41431-021-00901-1
PMID: 34075208 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2021 Reference: Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Impact factor: Publication type: Letter whit IF Authors: 't Hoen, Peter A C; Alexander, Elizabeth; Allamand, Valerie; Aretz, Stefan; Atalaia, Antonio; Baets, Jonathan; Balicza, Peter; Banfi, Sandro; Banka, Siddharth; Beeson, David et al. DOI: 10.1038/s41431-021-00859-0
PMID: 33519696 Journal: Frontiers in Neurology Year: 2020 Reference: Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. eCollection 2020. Impact factor: Publication type: Review in international publication Authors: Bachoud-Levi, Anne-Catherine; Baumer, Tobias; Bertini, Enrico; Brunelle, Alicia; Buizer, Annemieke I; Federico, Antonio; Gasser, Thomas; Graessner, Holm; Groeschel, Samuel; Hermanns, Sanja et al. DOI: 10.3389/fneur.2020.616569
PMID: 33323926 Journal: Revista Espanola de Salud Publica Year: 2020 Reference: Rev Esp Salud Publica. 2020 Dec 16;94. Impact factor: Publication type: Paper in national publication Authors: Argudo Ramirez, Ana; Armelles Sebastia, Merce; Arranz Amo, Jose Antonio; Artuch Iriberri, Rafael; Asensio de la Cruz, Oscar; Asso Ministral, Laia; Badenas Orquin, Celia; Beneitez Pastor, David; Blanco Alvarez, Adoracion; Cabezas Pena, Carmen et al. DOI:
PMID: 33317967 Journal: NEUROLOGIA Year: 2020 Reference: Neurologia (Engl Ed). 2020 Dec 11:S0213-4853(20)30427-8. doi: 10.1016/j.nrl.2020.09.006. Impact factor: Publication type: Paper in national publication Authors: Cordovilla, C; Correa-Vela, M; Forcadell, E; Garcia-Delgar, B; Ibanez, L; Lazaro, L; Madruga-Garrido, M; Mir, P; Morer, A; Nicolau, R et al. DOI: 10.1016/j.nrl.2020.09.006
PMID: 33228797 Journal: Orphanet Journal of Rare Diseases Year: 2020 Reference: Orphanet J Rare Dis. 2020 Nov 23;15(1):328. doi: 10.1186/s13023-020-01616-0. Impact factor: Publication type: Paper in international publication Authors: Bembi, Bruno; Day, Simon; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Gronborg, Sabine; Grunewald, Stephanie; Guldberg, Christina; Heron, Benedicte; Hudgens, Stacie et al. DOI: 10.1186/s13023-020-01616-0
PMID: 31872049 Journal: Neurology-Genetics Year: 2019 Reference: Neurol Genet. 2019 Oct 24;5(6):e364. doi: 10.1212/NXG.0000000000000364. eCollection 2019 Dec. Impact factor: Publication type: Paper in international publication Authors: Awasthi, Swapnil; Davidsson, Olafur B; Erikstrup, Christian; Esserlind, Ann-Louise; Folkmann Hansen, Thomas; Francke Christensen, Anne; Hjalgrim, Henrik; Ingason, Andres; Kogelman, Lisette J A; Macaya Ruíz, Alfons et al. DOI: 10.1212/NXG.0000000000000364
PMID: 31872048 Journal: Neurology-Genetics Year: 2019 Reference: Neurol Genet. 2019 Oct 25;5(6):e363. doi: 10.1212/NXG.0000000000000363. eCollection 2019 Dec. Impact factor: Publication type: Paper in international publication Authors: Auvin, Stephane; Bahi-Buisson, Nadia; Barcia, Giulia; Barthez, Marie-Anne; Billette de Villemeur, Thierry; Boddaert, Nathalie; Bonnefont, Jean-Paul; Chemaly, Nicole; Ciorna, Viorica; Doummar, Diane et al. DOI: 10.1212/NXG.0000000000000363
PMID: 31872056 Journal: Neurology-Genetics Year: 2019 Reference: Neurol Genet. 2019 Nov 11;5(6):e377. doi: 10.1212/NXG.0000000000000377. eCollection 2019 Dec. Impact factor: Publication type: Paper in international publication Authors: Macaya, Alfons; Marce-Grau, Anna; Tolosa, Eduard; Valls-Sole, Josep; Vilas, Dolores et al. DOI: 10.1212/NXG.0000000000000377
PMID: 31798515 Journal: Frontiers in Neurology Year: 2019 Reference: Front Neurol. 2019 Nov 13;10:1182. doi: 10.3389/fneur.2019.01182. eCollection 2019. Impact factor: Publication type: Paper in international publication Authors: Beaure d'Augeres, Guillaume; Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D'Amato, Lisa; Dahlin, Maria; de Vries, Petrus J; Ferreira, Jose C et al. DOI: 10.3389/fneur.2019.01182
PMID: 29053075 Journal: JOURNAL OF NEUROSURGERY Year: 2018 Reference: J Neurosurg. 2018 Sep;129(3):779-791. doi: 10.3171/2017.3.JNS162479. Epub 2017 Oct 20. Impact factor: Publication type: Paper in international publication Authors: Espanol, Malena I; Macaya, Alfons; Martin, Bryn A; Moncho, Dulce; Poca, Maria A; Rovira, Alex; Sahuquillo, Juan; Urbizu, Aintzane et al. DOI: 10.3171/2017.3.JNS162479
PMID: 29731251 Journal: NEURON Year: 2018 Reference: Neuron. 2018 May 16;98(4):743-753.e4. doi: 10.1016/j.neuron.2018.04.014. Epub 2018 May 3. Impact factor: Publication type: Paper in international publication Authors: Agee, Michelle; Alipanahi, Babak; Anttila, Verneri; Anttila, Verneri; Artto, Ville; Artto, Ville; Auton, Adam; Belin, Andrea Carmine; Belin, Andrea Carmine; Bell, Robert K et al. DOI: 10.1016/j.neuron.2018.04.014
PMID: 30189203 Journal: NEURON Year: 2018 Reference: Neuron. 2018 Sep 5;99(5):1098. doi: 10.1016/j.neuron.2018.08.029. Impact factor: Publication type: Letter or abstract Authors: Agee, Michelle; Alipanahi, Babak; Anttila, Verneri; Anttila, Verneri; Artto, Ville; Artto, Ville; Auton, Adam; Belin, Andrea Carmine; Belin, Andrea Carmine; Bell, Robert K et al. DOI: 10.1016/j.neuron.2018.08.029
PMID: 29930110 Journal: SCIENCE Year: 2018 Reference: Science. 2018 Jun 22;360(6395). pii: 360/6395/eaap8757. doi: 10.1126/science.aap8757. Impact factor: Publication type: Paper in international publication Authors: Adams, Hieab H H; Air, Tracy; Al-Chalabi, Ammar; Alda, Martin; Alegret, Montserrat; Alfredsson, Lars; Amouyel, Philippe; Andlauer, Till F M; Andreassen, Ole A; Anjorin, Adebayo et al. DOI: 10.1126/science.aap8757
PMID: 26923380 Journal: ACTA NEUROLOGICA SCANDINAVICA Year: 2017 Reference: Acta Neurol Scand. 2017 Jan;135(1):122-128. doi: 10.1111/ane.12572. Epub 2016 Feb 29. Impact factor: Publication type: Paper in international publication Authors: Becerra, J L; Burcet, J; Cano, A; Falip, M; Fernandez, S; Fossas, P; Jaraba, S; Miravet, E; Miro, J; Molins, A et al. DOI: 10.1111/ane.12572
PMID: 31156935 Journal: European Journal of Hospital Pharmacy-Science and Practice Year: 2017 Reference: Eur J Hosp Pharm. 2017 May;24(3):185-188. doi: 10.1136/ejhpharm-2016-001067. Epub 2016 Nov 4. Impact factor: Publication type: Paper in international publication Authors: Cabanas Poy, Maria Josep; Canete Ramirez, Carme; Clemente Bautista, Susana; Del Toro Riera, Mireia; Fernandez Polo, Aurora; Roch Santed, Maria et al. DOI: 10.1136/ejhpharm-2016-001067
PMID: 27858370 Journal: JIMD reports Year: 2017 Reference: JIMD Rep. 2017;35:17-22. doi: 10.1007/8904_2016_18. Epub 2016 Nov 18. Impact factor: Publication type: Paper in international publication Authors: Alarcon, Silvia; Ariceta, Gema; Cano, Paola; Del Toro, Mireia; Lara, Luis Enrique; Madrid, Alvaro; Martin-Begue, Nieves; Wolley-Dod, Charlotte et al. DOI: 10.1007/8904_2016_18
PMID: 27766516 Journal: QUALITY OF LIFE RESEARCH Year: 2017 Reference: Qual Life Res. 2017 May;26(5):1209-1222. doi: 10.1007/s11136-016-1433-0. Epub 2016 Oct 20. Impact factor: Publication type: Paper in international publication Authors: Ballester-Plane, J; Botellero, V L; Delgado, I; Laporta-Hoyos, O; Macaya, A; Melendez-Plumed, M; Narberhaus, A; Poo, P; Pueyo, R; Segarra, D et al. DOI: 10.1007/s11136-016-1433-0
PMID: 27345273 Journal: REVISTA DE NEUROLOGIA Year: 2016 Reference: Rev Neurol. 2016 Jul 1;63(1):3-4. Impact factor: Publication type: Paper in national publication Authors: Felipe-Rucian, A; Macaya-Ruiz, A et al. DOI:
PMID: 27438183 Journal: CLINICAL NEUROPHARMACOLOGY Year: 2016 Reference: Clin Neuropharmacol. 2016 Nov/Dec;39(6):299-301. Impact factor: Publication type: Paper in international publication Authors: Gonzalez-Cuevas, Montserrat; Quintana, Manolo; Raspall-Chaure, Miquel; Sala-Padro, Jacint; Salas-Puig, Xavier; Santamarina, Estevo; Sueiras-Gil, Maria; Toledo, Manuel et al. DOI: 10.1097/WNF.0000000000000177
PMID: 27816186 Journal: MEDICINA CLINICA Year: 2016 Reference: Med Clin (Barc). 2016 Dec 2;147(11):506.e1-506.e7. doi: 10.1016/j.medcli.2016.09.018. Epub 2016 Nov 3. Impact factor: Publication type: Paper in national publication Authors: Aldamiz Echevarri Azuara, Luis Jose; Campistol, Jaume; Ceberio-Hualde, Leticia; Couce, M Luz; Del Toro, Mireia; Garcia Morillo, Jose Salvador; Garcia-Silva, Maria Teresa; Gonzalez Gutierrez-Solana, Luis; Grau-Junyent, Josep M; Hermida Ameijeiras, Alvaro et al. DOI: 10.1016/j.medcli.2016.09.018
PMID: 27030250 Journal: Orphanet Journal of Rare Diseases Year: 2016 Reference: Orphanet J Rare Dis. 2016 Mar 31;11:32. doi: 10.1186/s13023-016-0406-2. Impact factor: Publication type: Clinical guide Authors: Baruteau, Julien; Cano, Aline; Chakrapani, Anupam; Coker, Mahmut; Couce, Maria L; Del Toro, Mireia; Delgado, Maria Bueno; Donati, Maria Alice; Garcia-Cazorla, Angeles; Gil-Ortega, David et al. DOI: 10.1186/s13023-016-0406-2
PMID: 25534043 Journal: AN PEDIATR Year: 2015 Reference: An Pediatr (Barc). 2015 Aug;83(2):109-16. doi: 10.1016/j.anpedi.2014.10.030. Epub 2014 Dec 19. Impact factor: Publication type: Paper in national publication Authors: Coronado, R; Giraldo Arjonilla, J; Macaya Ruiz, A; Roig-Quilis, M et al. DOI: 10.1016/j.anpedi.2014.10.030
PMID: 25367557 Journal: J MATERN-FETAL NEO M Year: 2015 Reference: J Matern Fetal Neonatal Med. 2015;28(17):2084-9. doi: 10.3109/14767058.2014.978280. Epub 2014 Nov 25. Impact factor: Publication type: Paper in international publication Authors: Cabero, L; Camba, F; Capote, S; Carreras, E; Cespedes, M C; Felipe, A; Gorraiz, V; Goya, M; Gracia, A; Halachian, C et al. DOI: 10.3109/14767058.2014.978280
PMID: 25169732 Journal: CEPHALALGIA Year: 2015 Reference: Cephalalgia. 2015 May;35(6):500-7. doi: 10.1177/0333102414547141. Epub 2014 Aug 28. Impact factor: Publication type: Paper in international publication Authors: Alvarez-Sabin, J; Anttila, V; Cormand, B; de Vries, B; Fernandez-Cadenas, I; Fernandez-Morales, J; Ferrari, Md; Louter, Ma; Macaya, A; Montaner, J et al. DOI: 10.1177/0333102414547141
PMID: 26491084 Journal: NEUROLOGY Year: 2015 Reference: Neurology. 2015 Nov 17;85(20):1736-43. doi: 10.1212/WNL.0000000000002125. Epub 2015 Oct 21. Impact factor: Publication type: Paper in international publication Authors: Aguilar, Esther; Aguilera-Albesa, Sergio; Armangue, Thais; Arratibel, Izaskun; Bataller, Luis; Bosch, Beatriz; Cantarin-Extremera, Veronica; Casado-Naranjo, Ignacio; Cervera, Carlos; Conde, Carlos Enrique et al. DOI: 10.1212/WNL.0000000000002125
PMID: 25433810 Journal: Orphanet Journal of Rare Diseases Year: 2014 Reference: Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4. Impact factor: Publication type: Paper in international publication Authors: Aldamiz-Echevarria, Luis; Balmaseda-Serrano, Elena; Belanger-Quintana, Amaya; Bueno-Delgado, Maria Amor; Castejon-Ponce, Esperanza; Couce, Maria Luz; Dalmau, Jaime; Del Toro-Riera, Mirella; Garcia-Jimenez, Inmaculada; Garcia-Silva, Maria Teresa et al. DOI: 10.1186/s13023-014-0187-4
PMID: 25424195 Journal: Orphanet Journal of Rare Diseases Year: 2014 Reference: Orphanet J Rare Dis. 2014 Nov 26;9:182. doi: 10.1186/s13023-014-0182-9. Impact factor: Publication type: Paper in international publication Authors: Belousova, Elena; Benedik, Mirjana; Bruzzi, Paolo; Carter, Tom; Castellana, Ramon; Comis, Silvia; Cottin, Vincent; Crippa, Stefania; Curatolo, Paolo; D Augeres, Guillaume et al. DOI: 10.1186/s13023-014-0182-9
PMID: 24996492 Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES Year: 2014 Reference: J Neurol Sci. 2014 Sep 15;344(1-2):37-42. doi: 10.1016/j.jns.2014.06.014. Epub 2014 Jun 17. Impact factor: Publication type: Paper in international publication Authors: Carreno, Oriel; Cormand, Bru; Macaya, Alfons; Marce-Grau, Anna; Pineda-Marfa, Merce; Pons, Roser; Raspall-Chaure, Miquel; Sintas, Celia; Vila-Pueyo, Marta et al. DOI: 10.1016/j.jns.2014.06.014
PMID: 24318406 Journal: ANNALS OF NEUROLOGY Year: 2014 Reference: Ann Neurol. 2014 Feb;75(2):317-23. doi: 10.1002/ana.24083. Epub 2014 Feb 25. Impact factor: Publication type: Paper in international publication Authors: Armangue, Thais; Dalmau, Josep; Glaser, Carol; Hoftberger, Romana; Ke, Michael; Lafuente-Hidalgo, Miguel; Leypoldt, Frank; Macaya, Alfons; Malaga, Ignacio; Marti, Itxaso et al. DOI: 10.1002/ana.24083
PMID: 23179554 Journal: JOURNAL OF INHERITED METABOLIC DISEASE Year: 2013 Reference: J Inherit Metab Dis. 2013 Sep;36(5):841-7. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22. Impact factor: Publication type: Paper in international publication Authors: Arranz, Jose Antonio; Briones, Paz; Bujan, Nuria; Campistol, Jaume; Del Toro, Mireia; Ferrer-Cortes, Xenia; Font, Aida; Garcia-Cazorla, Angels; Matalonga, Leslie; Navarro-Sastre, Aleix et al. DOI: 10.1007/s10545-012-9565-z
PMID: 23034978 Journal: JOURNAL OF CHILD NEUROLOGY Year: 2013 Reference: J Child Neurol. 2013 Nov;28(11):1531-1534. doi: 10.1177/0883073812460580. Epub 2012 Oct 3. Impact factor: Publication type: Paper in international publication Authors: Bornstein, Belen; Del Toro, Mireia; Garcia-Arumi, Elena; Monlleo-Neila, Laura; Munell, Francina; Roig-Quilis, Manuel; Sarrias, Axel et al. DOI: 10.1177/0883073812460580
PMID: 23932106 Journal: AMERICAN JOURNAL OF HUMAN GENETICS Year: 2013 Reference: Am J Hum Genet. 2013 Sep 5;93(3):524-9. doi: 10.1016/j.ajhg.2013.07.005. Epub 2013 Aug 8. Impact factor: Publication type: Paper in international publication Authors: Basel-Vanagaite, Lina; Bode, Harald; Borck, Guntram; Dahary, Dvir; Gothelf, Doron; Haviv, Ami; Hershkovitz, Tova; Heyman, Eli; Hubshman, Monika Weisz; Kakar, Naseebullah et al. DOI: 10.1016/j.ajhg.2013.07.005
PMID: 24183309 Journal: LANCET NEUROLOGY Year: 2013 Reference: Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Impact factor: Publication type: Paper in international publication Authors: Abdel-Hamid, Mohamed S; Abdel-Salam, Ghada M H; Ackroyd, Sam; Aeby, Alec; Aglan, Mona S; Allcock, Rebecca; Bailey, Kathryn M; Balottin, Umberto; Barnerias, Christine; Bernard, Genevieve et al. DOI: 10.1016/S1474-4422(13)70258-8
PMID: 23172093 Journal: REVISTA DE NEUROLOGIA Year: 2012 Reference: Rev Neurol. 2012 Dec 1;55(11):663-8. Impact factor: Publication type: Paper in national publication Authors: Lainez, Elena; Macaya-Ruiz, Alfons; Raspall-Chaure, Miquel; Roig-Quilis, Manuel; Salas-Puig, Javier; Toledo, Manuel et al. DOI: 10.33588/rn.5511.2012374
PMID: 22711898 Journal: CEPHALALGIA Year: 2012 Reference: Cephalalgia. 2012 Jul;32(10):750-65. Epub 2012 Jun 18. Impact factor: Publication type: Paper in international publication Authors: Abrahim, Alber; Adler, Lawrence; Agarwal, Sandeep; Aguado, Mario; Almadani, Mahmud; Anand, Ish; Annequin, Daniel; Arthur, Charles Peter; Artigas Pallares, Josep; Assaid, Christopher et al. DOI: 10.1177/0333102412451358
PMID: 23092449 Journal: Orphanet Journal of Rare Diseases Year: 2012 Reference: Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82. Impact factor: Publication type: Paper in international publication Authors: Baiget, Montserrat; Colomer, Jaume; Diaz-Manera, Jorge; Gallano, Pia; Gallardo, Eduard; Gonzalez-Mera, Laura; Gonzalez-Quereda, Lidia; Hernandez-Lain, Aurelio; Jimenez-Mallebrera, Cecilia; Jou, Cristina et al. DOI: 10.1186/1750-1172-7-82
PMID: 23001123 Journal: NATURE GENETICS Year: 2012 Reference: Nat Genet. 2012 Sep 23;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Impact factor: Publication type: Paper in international publication Authors: Bacino, Carlos A; Battini, Roberta; Bertini, Enrico; Bhaskar, Sanjeev S; Briggs, Tracy A; Brogan, Paul A; Brueton, Louise A; Carpanelli, Marialuisa; Crow, Yanick J; De Laet, Corinne et al. DOI: 10.1038/ng.2414
PMID: 22937436 Journal: Case Rep Rheumatol Year: 2011 Reference: Case Rep Rheumatol. 2011;2011:134106. doi: 10.1155/2011/134106. Epub 2012 Jan 15. Impact factor: Publication type: Paper in international publication Authors: Caracseghi, Fabiola; Izquierdo-Blasco, Jaume; Melendo-Perez, Susana; Modesto, Consuelo; Roig-Quilis, Manuel; Sanchez-Montanez, Angel et al. DOI: 10.1155/2011/134106
PMID: 21439875 Journal: MOLECULAR GENETICS AND METABOLISM Year: 2011 Reference: Mol Genet Metab. 2011 Jun;103(2):113-20. Epub 2011 Mar 4. Impact factor: Publication type: Paper in international publication Authors: Abdul-Rahman, O; Acosta, A; Alcalde, C; Aldamiz, L; Aleck, K; Almassy, Z; Baldellou, A; Baric, I; Barisic, I; Beck, M et al. DOI: 10.1016/j.ymgme.2011.02.018
PMID: 21752152 Journal: PEDIATRICS INTERNATIONAL Year: 2011 Reference: Pediatr Int. 2011 Dec;53(6):985-9. doi: 10.1111/j.1442-200X.2011.03427.x. Impact factor: Publication type: Paper in international publication Authors: Aldamiz-Echevarria, Luis; Blasco, J; Bueno, M A; Campos, M Gil; Couce, Maria Luz; Dalmau, Jaime; del Toro, Mireia; Gomez, L; Manzanares, J; Ortega, A Gil et al. DOI: 10.1111/j.1442-200X.2011.03427.x
PMID: 21815885 Journal: CLINICAL GENETICS Year: 2011 Reference: Clin Genet. 2011 Sep;80(3):297-300. doi: 10.1111/j.1399-0004.2011.01650.x. Impact factor: Publication type: Letter or abstract Authors: Arranz, J A; Briones, P; Bujan, N; Del Toro, M; Fernandez-Burriel, M; Font, A; Lissens, W; Lopez-Gallardo, E; Montoya, J; Navarro-Sastre, A et al. DOI: 10.1111/j.1399-0004.2011.01650.x
PMID: 20638311 Journal: MOLECULAR GENETICS AND METABOLISM Year: 2010 Reference: Mol Genet Metab. 2010 Oct-Nov;101(2-3):123-9. Epub 2010 Jun 23. Impact factor: Publication type: Paper in international publication Authors: Abdul-Rahman, O; Acosta, A; Alcalde, C; Aldamiz, L; Aleck, K; Almassy, Z; Baldellou, A; Baric, I; Barisic, I; Beck, M et al. DOI: 10.1016/j.ymgme.2010.06.011
PMID: 21079794 Journal: PLoS One Year: 2010 Reference: PLoS One. 2010 Nov 4;5(11):e13844. Impact factor: Publication type: Paper in international publication Authors: ; ; ; ; ; ; et al. DOI: 10.1371/journal.pone.0013844
PMID: 20621801 Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES Year: 2010 Reference: J Neurol Sci. 2010 Aug 15;295(1-2):110-3. Epub 2010 Jun 8. Impact factor: Publication type: Paper in international publication Authors: Conill, Joan; Cuenca-Leon, Ester; Gratacos, Margarida; Macaya, Alfons; Raspall-Chaure, Miquel; Redecillas, Susana; Roig-Quilis, Manuel; Urbizu, Aintzane et al. DOI: 10.1016/j.jns.2010.05.017
PMID: 20813594 Journal: ANALES DE PEDIATRIA Year: 2010 Reference: An Pediatr (Barc). 2010 Nov;73(5):279.e1-4. Epub 2010 Sep 1. Impact factor: Publication type: Paper in national publication Authors: ; ; ; ; ; ; ; ; ; et al. DOI: 10.1016/j.anpedi.2010.03.005
PMID: 21136962 Journal: Proteomics Clinical Applications Year: 2009 Reference: Proteomics Clin Appl. 2009 Dec;3(12):1430-9. doi: 10.1002/prca.200800251. Epub 2009 Oct 7. Impact factor: Publication type: Paper in international publication Authors: Arranz, Jose A; Bech-Serra, Joan J; Canals, Francesc; Colome, Nuria; Del Toro, Mireia; Riudor, Encarnacio; Rodriguez, Carlos E et al. DOI: 10.1002/prca.200800251
PMID: 19563586 Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY Year: 2009 Reference: Dev Med Child Neurol. 2009 Jun;51(6):436-45. Impact factor: Publication type: Paper in international publication Authors: Bares, Martin; Benetin, J; Bonikowski, M; Cardo, E; Fontan, D; Jasinski, M; Jozwiak, M; Kanovsky, P; Kanovsky, Petr; Kraus, J et al. DOI: 10.1111/j.1469-8749.2008.03264.x
PMID: 19859877 Journal: REVISTA DE NEUROLOGIA Year: 2009 Reference: Rev Neurol. 2009 Nov 16-30;49(10):529-32. Impact factor: Publication type: Paper in national publication Authors: Boronat-Guerrero, S; del Toro-Riera, M; Roig-Quilis, M; Vazquez-Mendez, E; Velasco-Puyo, P et al. DOI:
PMID: 19597960 Journal: JOURNAL OF INHERITED METABOLIC DISEASE Year: 2009 Reference: J Inherit Metab Dis. 2009 Aug;32(4):534-43. Impact factor: Publication type: Paper in international publication Authors: Aldamiz, Luis; Aleck, Kirk; Almassy, Z; Almassy, Zsuzsanna; Baldellou, Antonio; Baric, Ivo; Barisic, Ingeborg; Beck, M; Beck, Michael; Bodamer, Olaf et al. DOI: 10.1007/s10545-009-1119-7
PMID: 18607069 Journal: CELLULAR ONCOLOGY Year: 2008 Reference: Cell Oncol. 2008;30(4):349-65. Impact factor: Publication type: Paper in international publication Authors: Barbosa-Desongles, Anna; Barquinero, Jordi; Bellmunt, Joaquim; de Torres, Ines; Hurtado, Antoni; Lopez-Aviles, Sandra; Morote, Joan; Munell, Francina; Petriz, Jordi; Pinos, Tomas et al. DOI:
PhD student: Agusti Rodriguez Palmero Seuma Director/s: Alfons Macaya Ruíz, Aurora Pujol Onofre University: Universitat Autònoma de Barcelona Year: 2022
PhD student: Anna Marcé Grau Director/s: Alfons Macaya Ruíz University: Universidad Autònoma de Barcelona Year: 2018
PhD student: María Teresa Lax Pericall Director/s: University: Universidad Autònoma de Barcelona Year: 2016
The ClinPrior algorithm achieved a positive diagnosis rate of 70% in two minority diseases of neurodegenerative origin, which represents double the number of cases that are diagnosed with current tools.
Over the course of two days, experts presented the latest advances in vectors, different gene modification techniques and their transfer to clinical practice.
El 20% dels pacients en els quals s’havia trobat alguna predisposició genètica van ser diagnosticats amb algun tipus de tumor i van poder iniciar el tractament de manera precoç.
