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.
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: Ariadna Laguna Tuset Collaborators: Maria Victoria Gonzalez Martinez, Miquel Vila Bover, Marina Lorente Picón, Helena Xicoy Cortada, Daniela Samaniego Toro, Daniela Samaniego Toro, Sara Belmonte Calderon Funding agency: Instituto de Salud Carlos III Funding: 171820 Reference: PI21/01603 Duration: 01/01/2022 - 30/06/2026
PMID: 36705326 Journal: HEADACHE Year: 2023 Reference: Headache. 2023 May;63(5):642-651. doi: 10.1111/head.14470. Epub 2023 Jan 27. Impact factor: Publication type: Paper in international publication Authors: Adams, Hieab H H; Anttila, Verneri; Aromaa, Arpo J; Artto, Ville; Belin, Andrea C; Boomsma, Dorret I; Borck, Guntram; Borte, Sigrid; Buring, Julie E; Byrnes, Andrea E et al. DOI: 10.1111/head.14470
PMID: 36704861 Journal: EUROPEAN JOURNAL OF NEUROLOGY Year: 2023 Reference: Eur J Neurol. 2023 May;30(5):1515-1527. doi: 10.1111/ene.15684. Epub 2023 Feb 20. Impact factor: Publication type: Review in international publication Authors: Armangue, Thais; Arrambide, Georgina; Castillo, Mireia; Cobo-Calvo, Alvaro; Espejo, Carmen; Felipe-Rucian, Ana; Montalban, Xavier; Olive, Gemma; Sepulveda, Maria; Tintore, Mar et al. DOI: 10.1111/ene.15684
PMID: 36759321 Journal: CEPHALALGIA Year: 2023 Reference: Cephalalgia. 2023 Feb;43(2):3331024221146317. doi: 10.1177/03331024221146317. Impact factor: Publication type: Paper in international publication Authors: Cormand, Bru; Cuenca-Leon, Ester; Fernandez-Castillo, Noelia; Kulis, Marta; Macaya, Alfons; Martin-Subero, Jose Ignacio; Pozo-Rosich, Patricia; Queiros, Ana C; Sintas, Celia; Vila-Pueyo, Marta et al. DOI: 10.1177/03331024221146317
PMID: 37107582 Journal: Genes Year: 2023 Reference: Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822. Impact factor: Publication type: Paper in international publication Authors: Bozovic, Ivana Babic; Cazurro-Gutierrez, Ana; Diaw, Sokhna Haissatou; Gonzalez, Victoria; Grozinger, Anne; Korenke, G Christoph; Lohmann, Katja; Macaya, Alfons; Maver, Ales; Munchau, Alexander et al. DOI: 10.3390/genes14040822
PMID: 36118514 Journal: Movement Disorders Clinical Practice Year: 2022 Reference: Mov Disord Clin Pract. 2022 Sep 11;9(Suppl 2):S17-S20. doi: 10.1002/mdc3.13526. eCollection 2022 Sep. Impact factor: Publication type: Letter or abstract Authors: Gabaldon Dominguez, Maria Alejandra; Gonzalez, Victoria; Hernandez-Vara, Jorge; Llaurado Gayete, Arnau; Samaniego-Toro, Daniela et al. DOI: 10.1002/mdc3.13526
PMID: 36096018 Journal: PARKINSONISM & RELATED DISORDERS Year: 2022 Reference: Parkinsonism Relat Disord. 2022 Oct;103:112-114. doi: 10.1016/j.parkreldis.2022.08.032. Epub 2022 Sep 7. Impact factor: Publication type: Letter or abstract Authors: Bescos, Agustin; Cazurro-Gutierrez, Ana; Gonzalez, Victoria; Ispierto, Lourdes; Lasa-Aranzasti, Amaia; Macaya-Ruiz, Alfons; Moreno-Galdo, Antonio; Perez-Duenas, Belen; Plaja, Alberto; Tardaguila, Manel et al. DOI: 10.1016/j.parkreldis.2022.08.032
PMID: 36078975 Journal: Journal of Clinical Medicine Year: 2022 Reference: J Clin Med. 2022 Aug 28;11(17). pii: jcm11175045. doi: 10.3390/jcm11175045. Impact factor: Publication type: Paper in international publication Authors: Barrio-Carreras, Delia; Bellusci, Marcello; Blasco-Alonso, Javier; Camprodon Gomez, Maria; Canedo, Elvira; Correcher, Patricia; Couce, Maria L; de Las Heras Montero, Javier; de Los Santos, Mariela; Del Toro, Mireia et al. DOI: 10.3390/jcm11175045
PMID: 36064416 Journal: Orphanet Journal of Rare Diseases Year: 2022 Reference: Orphanet J Rare Dis. 2022 Sep 5;17(1):340. doi: 10.1186/s13023-022-02468-6. Impact factor: Publication type: Paper in international publication Authors: Baide-Mairena, Heydi; Flores-Rojas, Katherine; Gil, Angel; Gil-Campos, Mercedes; Lopez-Laso, Eduardo; Marti-Sanchez, Laura; Pata, Silvia; Perez-Duenas, Belen et al. DOI: 10.1186/s13023-022-02468-6
PMID: 34075210 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2021 Reference: Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Impact factor: Publication type: Paper in international publication Authors: 't Hoen, Peter A C; Alexander, Elizabeth; Allamand, Valerie; Aretz, Stefan; Aretz, Stefan; Atalaia, Antonio; Baets, Jonathan; Baets, Jonathan; Baets, Jonathan; Balicza, Peter et al. DOI: 10.1038/s41431-021-00852-7
PMID: 34600563 Journal: Orphanet Journal of Rare Diseases Year: 2021 Reference: Orphanet J Rare Dis. 2021 Oct 2;16(1):407. doi: 10.1186/s13023-021-02030-w. Impact factor: Publication type: Review in international publication Authors: Dominguez-Gonzalez, Cristina; Hirano, Michio; Madruga-Garrido, Marcos; Marti, Itxaso; Marti, Ramon; Martin, Miguel A; Munell, Francina; Nascimento, Andres; Olive, Montse; Paradas, Carmen et al. DOI: 10.1186/s13023-021-02030-w
PMID: 34566842 Journal: Frontiers in Neurology Year: 2021 Reference: Front Neurol. 2021 Sep 8;12:697467. doi: 10.3389/fneur.2021.697467. eCollection 2021. 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.2021.697467
PMID: 34521063 Journal: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY Year: 2021 Reference: Seizure. 2021 Nov;92:155-157. doi: 10.1016/j.seizure.2021.08.020. Epub 2021 Sep 7. Impact factor: Publication type: Paper in international publication Authors: de la Ossa, Alejandro Martinez; Macaya, Alfons; Marce-Grau, Anna; Raspall-Chaure, Miquel; Sala-Coromina, Julia et al. DOI: 10.1016/j.seizure.2021.08.020
PMID: 31907071 Journal: Orphanet Journal of Rare Diseases Year: 2020 Reference: Orphanet J Rare Dis. 2020 Jan 6;15(1):3. doi: 10.1186/s13023-019-1280-5. Impact factor: Publication type: Paper in international publication Authors: Aarsand, Aasne; Aldamiz-Echevarria, Luis; Azevedo, Olga; Baric, Ivo; Bellettato, Cinzia Maria; Belmatoug, Nadia; Bosch, Annet; Burlina, Alberto; Cano, Aline; Ceccarini, Giovanni et al. DOI: 10.1186/s13023-019-1280-5
PMID: 33041968 Journal: Frontiers in Neurology Year: 2020 Reference: Front Neurol. 2020 Sep 16;11:972. doi: 10.3389/fneur.2020.00972. eCollection 2020. 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.2020.00972
PMID: 33022436 Journal: PARKINSONISM & RELATED DISORDERS Year: 2020 Reference: Parkinsonism Relat Disord. 2020 Nov;80:165-174. doi: 10.1016/j.parkreldis.2020.09.023. Epub 2020 Sep 21. Impact factor: Publication type: Paper in international publication Authors: Aguilera-Albesa, Sergio; Baide-Mairena, Heidy; Cabrera, Jose Carlos; Cazurro, Anna; Correa-Vela, Marta; De Fabregues, Oriol; Eiris, Jesus; Espinos, Carmen; Fernandez-Ramos, Joaquin Alejandro; Garriz-Luis, Maite et al. DOI: 10.1016/j.parkreldis.2020.09.023
PMID: 32982929 Journal: Frontiers in Neurology Year: 2020 Reference: Front Neurol. 2020 Aug 28;11:904. doi: 10.3389/fneur.2020.00904. eCollection 2020. 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.2020.00904
PMID: 31142374 Journal: Orphanet Journal of Rare Diseases Year: 2019 Reference: Orphanet J Rare Dis. 2019 May 29;14(1):119. doi: 10.1186/s13023-019-1091-8. Impact factor: Publication type: Paper in international publication Authors: Azevedo, Olga; Azuara, Luis Aldamiz-Echevarria; Balogh, Istvan; Baric, Ivo; Bellettato, Cinzia; Belmatoug, Nadia; Bembi, Bruno; Bosch, Annet; Burlina, Alberto; Cazorla, Angeles Garcia et al. DOI: 10.1186/s13023-019-1091-8
PMID: 31708865 Journal: Frontiers in Neurology Year: 2019 Reference: Front Neurol. 2019 Oct 25;10:1144. doi: 10.3389/fneur.2019.01144. 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.2019.01144
PMID: 31687335 Journal: Molecular Genetics and Metabolism Reports Year: 2019 Reference: Mol Genet Metab Rep. 2019 Oct 21;21:100508. doi: 10.1016/j.ymgmr.2019.100508. eCollection 2019 Dec. Impact factor: Publication type: Paper in international publication Authors: Del Toro, M; Gevorkian, A K; Hendriksz, C J; Lampe, C; Lobzhanidze, T V; McNelly, B; Perez-Lopez, J; Stepien, K M; Vashakmadze, N D et al. DOI: 10.1016/j.ymgmr.2019.100508
PMID: 31603835 Journal: MEDICINA-BUENOS AIRES Year: 2019 Reference: Medicina (B Aires). 2019;79 Suppl 3:6-9. Impact factor: Publication type: Letter or abstract Authors: Alonso, Xenia; Campistol, Jaume; Escofet, Conchita; Fons, Carmen; Macaya, Alfons; Revilla Orias, M Daniela et al. DOI:
PMID: 30304743 Journal: NEUROPEDIATRICS Year: 2018 Reference: Neuropediatrics. 2018 Dec;49(6):408-413. doi: 10.1055/s-0038-1673332. Epub 2018 Oct 10. Impact factor: Publication type: Paper in international publication Authors: Aguilera-Albesa, Sergio; Aisa, Eduardo; Artuch, Rafael; Bolasell, Merce; Cancho-Candela, Ramon; Carrasco-Marina, M Llanos; Carratala, Francisco; Couce, Maria L; Cuadras, Daniel; Felipe, Ana et al. DOI: 10.1055/s-0038-1673332
PMID: 30242960 Journal: LIVER TRANSPLANTATION Year: 2018 Reference: Liver Transpl. 2018 Dec;24(12):1736-1745. doi: 10.1002/lt.25344. Impact factor: Publication type: Paper in international publication Authors: Bilbao, Itxarone; Charco, Ramon; Del Toro, Mireia; Garcia, Angels; Garcia, Camila; Juamperez, Javier; Martin de Carpi, Javier; Meavilla, Silvia; Molera, Cristina; Nunez, Raquel et al. DOI: 10.1002/lt.25344
PMID: 30201051 Journal: Orphanet Journal of Rare Diseases Year: 2018 Reference: Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8. Impact factor: Publication type: Paper in international publication Authors: Agranovich, Oleg; Allaire, Catherine; Altunbasak, Sakir; Anlar, Banu; Aparicio, Susana Roldan; Auvin, Stephane; Barca, Manuel Oscar Blanco; Baumann, Matthias; Belousova, Elena; Belyaev, Oleg Valeryevich et al. DOI: 10.1186/s13023-018-0901-8
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: 27890788 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Feb;60(2):124-129. doi: 10.1016/j.ejmg.2016.11.007. Epub 2016 Nov 25. Impact factor: Publication type: Paper in international publication Authors: Bueno Campana, M; Dominguez-Carral, J; Garcia-Perez, M A; Lopez-Pison, F J; Macaya, A; Natera-de Benito, D et al. DOI: 10.1016/j.ejmg.2016.11.007
PMID: 28957430 Journal: PLoS One Year: 2017 Reference: PLoS One. 2017 Sep 28;12(9):e0185663. doi: 10.1371/journal.pone.0185663. eCollection 2017. Impact factor: Publication type: Paper in international publication Authors: Andreassen, Ole A; Anttila, Verneri; Bettella, Francesco; Chasman, Daniel I; Dale, Anders M; Frei, Oleksander; Freilinger, Tobias M; Gormley, Padhraig; Kurth, Tobias; Macaya, Alfons et al. DOI: 10.1371/journal.pone.0185663
PMID: 27919769 Journal: JOURNAL OF PAIN Year: 2017 Reference: J Pain. 2017 Apr;18(4):366-375. doi: 10.1016/j.jpain.2016.11.007. Epub 2016 Dec 3. Impact factor: Publication type: Paper in international publication Authors: Cormand, Bru; Fernandez-Castillo, Noelia; Macaya, Alfons; Pozo-Rosich, Patricia; Sintas, Celia; Vila-Pueyo, Marta et al. DOI: 10.1016/j.jpain.2016.11.007
PMID: 28981531 Journal: PLoS One Year: 2017 Reference: PLoS One. 2017 Oct 5;12(10):e0185327. doi: 10.1371/journal.pone.0185327. eCollection 2017. Impact factor: Publication type: Paper in international publication Authors: Barneda-Zahonero, Bruna; Calleja-Yague, Isabel; Coccia, Elena; Comella, Joan X; Lopez-Soriano, Joaquin; Moubarak, Rana S; Munell, Francina; Perez-Garcia, M Jose; Planells-Ferrer, Laura; Sanuy, Blanca et al. DOI: 10.1371/journal.pone.0185327
PMID: 27477325 Journal: MOVEMENT DISORDERS Year: 2016 Reference: Mov Disord. 2016 Nov;31(11):1743-1748. doi: 10.1002/mds.26737. Epub 2016 Aug 1. Impact factor: Publication type: Paper in international publication Authors: Castellano, Antonio; Iglesias, Gemma; Lucas, Miguel; Macaya, Alfons; Martinez-Mir, Amalia; Rojas, Ana M; Scholl, Francisco G; Tristan-Clavijo, Enriqueta et al. DOI: 10.1002/mds.26737
PMID: 27374853 Journal: MITOCHONDRION Year: 2016 Reference: Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30. Impact factor: Publication type: Paper in international publication Authors: Alcazar, Maria; Arenas, Joaquin; Arias, Angela; Artuch, Rafael; Avila Polo, Rainiero; Bautista Lorite, Juan; Blazquez, Alberto; Brea-Calvo, Gloria; Cascajo, Maria V; Colomer, Jaume et al. DOI: 10.1016/j.mito.2016.06.007
PMID: 27322543 Journal: NATURE GENETICS Year: 2016 Reference: Nat Genet. 2016 Aug;48(8):856-66. doi: 10.1038/ng.3598. Epub 2016 Jun 20. Impact factor: Publication type: Paper in international publication Authors: Adams, Hieab H H; Anttila, Verneri; Anttila, Verneri; Aromaa, Arpo J; Artto, Ville; Artto, Ville; Belin, Andrea C; Belin, Andrea Carmine; Boomsma, Dorret I; Boomsma, Dorret I et al. DOI: 10.1038/ng.3598
PMID: 26542799 Journal: CELLULAR AND MOLECULAR LIFE SCIENCES Year: 2016 Reference: Cell Mol Life Sci. 2016 Apr;73(7):1515-28. doi: 10.1007/s00018-015-2082-0. Epub 2015 Nov 5. Impact factor: Publication type: Paper in international publication Authors: Comes, Nuria; Felipe, Antonio; Martinez-Marmol, Ramon; Perez-Verdaguer, Mireia; Pujadas, Lluis; Soriano, Eduardo; Sorkin, Alexander; Styrczewska, Katarzyna; Vicente, Ruben et al. DOI: 10.1007/s00018-015-2082-0
PMID: 26502900 Journal: ORPHANET J RARE DIS Year: 2015 Reference: Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y. Impact factor: Publication type: Paper in international publication Authors: Artuch, Rafael; Boix, Cristina; Briones, Paz; Carratala, Francisco; Cuadras, Daniel; de Diego, Victor; Felipe, Ana; Fons, Carmen; Garcia-Cazorla, Angels; Giros, Marisa et al. DOI: 10.1186/s13023-015-0358-y
PMID: 26716990 Journal: PLOS ONE Year: 2015 Reference: PLoS One. 2015 Dec 30;10(12):e0146035. doi: 10.1371/journal.pone.0146035. eCollection 2015. Impact factor: Publication type: Paper in international publication Authors: Bahamonde, Maria Isabel; Drechsel, Oliver; Fernandez-Fernandez, Jose M; Macaya, Alfons; Marce-Grau, Anna; Ossowski, Stephan; Prieto, Marta; Rahman, Rubayte; Serra, Selma Angelica et al. DOI: 10.1371/journal.pone.0146035
PMID: 25388962 Journal: CEPHALALGIA Year: 2015 Reference: Cephalalgia. 2015 Aug;35(9):776-82. doi: 10.1177/0333102414557841. Epub 2014 Nov 11. Impact factor: Publication type: Paper in international publication Authors: Arenas, Concepcio; Cormand, Bru; Fernandez-Morales, Jessica; Macaya, Alfons; Narberhaus, Bernat; Pozo-Rosich, Patricia; Sintas, Celia; Vila-Pueyo, Marta et al. DOI: 10.1177/0333102414557841
PMID: 24771286 Journal: JOURNAL OF NEURO-ONCOLOGY Year: 2014 Reference: J Neurooncol. 2014 Jun;118(2):205-23. doi: 10.1007/s11060-014-1429-y. Epub 2014 Apr 27. Impact factor: Publication type: Paper in international publication Authors: Garcia-Esparza, Elena; Lopez-Laso, Eduardo; Macaya, Alfons; Malaga, Ignacio; Rovira, Alex; Ruiz-Falco, Maria Luz; Vazquez, Elida; Vicente, Josefina et al. DOI: 10.1007/s11060-014-1429-y
PMID: 23324118 Journal: JOURNAL OF NEUROIMAGING Year: 2014 Reference: J Neuroimaging. 2014 May-Jun;24(3):250-6. doi: 10.1111/jon.12007. Epub 2013 Jan 16. Impact factor: Publication type: Paper in international publication Authors: Macaya, Alfons; Poca, Maria-Antonia; Rovira, Alex; Sahuquillo, Juan; Urbizu, Aintzane; Vidal, Xavier et al. DOI: 10.1111/jon.12007
PMID: 24484525 Journal: BMC GENOMICS Year: 2014 Reference: BMC Genomics. 2014 Feb 1;15(1):91. doi: 10.1186/1471-2164-15-91. Impact factor: Publication type: Paper in international publication Authors: Artuch, Rafael; Colomer, Jaume; De Meirleir, Linda; De Paepe, Boel; Fagiolari, Gigliola; Ferrer, Isidre; Jekovec-Vrhovsek, Maja; Jimenez-Mallebrera, Cecilia; Jou, Cristina; Kalko, Susana Graciela et al. DOI: 10.1186/1471-2164-15-91
PMID: 24445160 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2014 Reference: Eur J Paediatr Neurol. 2014 May;18(3):430-3. doi: 10.1016/j.ejpn.2013.12.011. Epub 2014 Jan 8. Impact factor: Publication type: Paper in international publication Authors: Cormand, Bru; Elorza, Xabier; Fernandez-Fernandez, Jose M; Flotats-Bastardes, Marina; Gene, Gemma G; Macaya, Alfons; Sintas, Celia; Valverde, Miguel A; Vila-Pueyo, Marta et al. DOI: 10.1016/j.ejpn.2013.12.011
PMID: 24498617 Journal: Molecular genetics and genomic medicine Year: 2013 Reference: Mol Genet Genomic Med. 2013 Nov;1(4):206-22. doi: 10.1002/mgg3.24. Epub 2013 Jul 2. Impact factor: Publication type: Paper in international publication Authors: Carreno, Oriel; Cormand, Bru; Corominas, Roser; Fernandez-Castillo, Noelia; Fernandez-Fernandez, Jose Manuel; Gene, Gemma G; Grinberg, Daniel; Llaneza, Miguel; Macaya, Alfons; Pons, Roser et al. DOI: 10.1002/mgg3.24
PMID: 24122063 Journal: JOURNAL OF NEUROLOGY Year: 2013 Reference: J Neurol. 2013 Dec;260(12):3122-8. Impact factor: Publication type: Paper in international publication Authors: Ailouti, Nadim; Alvarez-Sabin, Javier; de Gracia, R; Lainez, Elena; Porta, Isabel; Puig, Xavier Salas; Quintana, Manuel; Raspall, Miquel; Santamarina, Estevo; Sueiras, Maria et al. DOI: 10.1007/s00415-013-7133-6
PMID: 24058525 Journal: PLoS One Year: 2013 Reference: PLoS One. 2013 Sep 10;8(9):e74179. doi: 10.1371/journal.pone.0074179. Impact factor: Publication type: Paper in international publication Authors: Barbosa-Desongles, Anna; De Torres, Ines; Hernandez, Cristina; Munell, Francina; Poupon, Marie-France; Selva, David M; Simo, Rafael et al. DOI: 10.1371/journal.pone.0074179
PMID: 24052441 Journal: Revista de neurologia Year: 2013 Reference: Rev Neurol. 2013 Oct 1;57(7):306-12. Impact factor: Publication type: Paper in national publication Authors: Alvarez-Sabin, J; Cambrodi-Masip, R; Gonzalez-Cuevas, M; Raspall-Chaure, M; Salas-Puig, J; Santamarina, E; Sarria, S; Sero-Ballesteros, L; Sueiras-Gil, M; Toledo, M et al. DOI: 10.33588/rn.5707.2013214
PMID: 22972573 Journal: REVISTA DE NEUROLOGIA Year: 2012 Reference: Rev Neurol. 2012 Sep 16;55(6):321-9. Impact factor: Publication type: Letter or abstract Authors: Boronat-Guerrero, S; Del Toro-Riera, M; Flotats-Bastardas, M; Macaya-Ruiz, A; Munell, F; Ortega-Aznar, A; Raspall-Chaure, M; Roig-Quilis, M; Sanchez-Montanez, A; Vazquez-Mendez, E et al. DOI:
PMID: 22932949 Journal: NEUROPEDIATRICS Year: 2012 Reference: Neuropediatrics. 2012 Oct;43(5):271-4. doi: 10.1055/s-0032-1324733. Epub 2012 Aug 29. Impact factor: Publication type: Paper in international publication Authors: Coronado, Ricard; Giraldo, Jesus; Macaya, Alfons; Roig, Manuel et al. DOI: 10.1055/s-0032-1324733
PMID: 22908361 Journal: CEPHALALGIA Year: 2012 Reference: Cephalalgia. 2012 Oct;32(14):1076-80. doi: 10.1177/0333102412457090. Epub 2012 Aug 20. Impact factor: Publication type: Paper in international publication Authors: Cacheiro, Pilar; Carreno, Oriel; Cormand, Bru; Fernandez-Morales, Jessica; Macaya, Alfons; Narberhaus, Bernat; Pozo-Rosich, Patricia; Sintas, Celia; Sobrido, Maria-Jesus et al. DOI: 10.1177/0333102412457090
PMID: 22860067 Journal: PLoS One Year: 2012 Reference: PLoS One. 2012;7(7):e42148. Epub 2012 Jul 30. Impact factor: Publication type: Paper in international publication Authors: Bargallo, Nuria; Junque, Carme; Macaya, Alfons; Sala-Llonch, Roser; Segarra, Dolors; Soria-Pastor, Sara; Zubiaurre-Elorza, Leire et al. DOI: 10.1371/journal.pone.0042148
PMID: 21955540 Journal: MEDICINA CLINICA Year: 2011 Reference: Med Clin (Barc). 2011 Nov 19;137(13):596-9. Epub 2011 Sep 28. Impact factor: Publication type: Paper in national publication Authors: Albert Brotons, Dimpna C; Arranz Amo, Jose Antonio; Carrascosa Lezcano, Antonio; Del Toro Riera, Mireia; Girona Comas, Josep; Sabate Rotes, Anna et al. DOI: 10.1016/j.medcli.2011.06.019
PMID: 22082423 Journal: HEADACHE Year: 2011 Reference: Headache. 2011 Nov;51(10):1542-1546. doi: 10.1111/j.1526-4610.2011.02014.x. Impact factor: Publication type: Paper in international publication Authors: ; ; ; ; ; et al. DOI: 10.1111/j.1526-4610.2011.02014.x
PMID: 22077971 Journal: AMERICAN JOURNAL OF HUMAN GENETICS Year: 2011 Reference: Am J Hum Genet. 2011 Nov 11;89(5):656-67. Impact factor: Publication type: Paper in international publication Authors: Arranz, Jose Antonio; Briones, Paz; Campistol, Jaume; Del Toro, Mireia; Elpeleg, Orly; Font, Aida; Garcia-Cazorla, Angels; Garcia-Villoria, Judit; Gutierrez-Solana, Luis Gonzalez; Labayru, M Teresa et al. DOI: 10.1016/j.ajhg.2011.10.005
PMID: 21386751 Journal: PEDIATRIC RESEARCH Year: 2011 Reference: Pediatr Res. 2011 Jun;69(6):554-60. Impact factor: Publication type: Paper in international publication Authors: ; ; ; ; ; ; ; et al. DOI: 10.1203/PDR.0b013e3182182366
PMID: 20304337 Journal: PEDIATRIC NEUROLOGY Year: 2010 Reference: Pediatr Neurol. 2010 Apr;42(4):295-7. Impact factor: Publication type: Paper in international publication Authors: Boix, Hector; Ortega-Aznar, Arantxa; Roig-Quilis, Manuel; Salcedo, Salvador; Vazquez, Elida et al. DOI: 10.1016/j.pediatrneurol.2009.11.009
PMID: 19455600 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS Year: 2010 Reference: Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):177-84. Impact factor: Publication type: Paper in international publication Authors: Blanco-Arias, P; Cormand, B; Corominas, R; Cuenca-Leon, E; Leira, R; Lopez-Gonzalez, J; Macaya, A; Narberhaus, B; Ribases, M; Roig, M et al. DOI: 10.1002/ajmg.b.30972
PMID: 20080591 Journal: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA Year: 2010 Reference: Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1672-7. Epub 2010 Jan 8. Impact factor: Publication type: Paper in international publication Authors: ; ; ; ; ; ; ; ; ; et al. DOI: 10.1073/pnas.0908359107
PMID: 19534810 Journal: BMC MOLECULAR BIOLOGY Year: 2009 Reference: BMC Mol Biol. 2009 Jun 17;10:59. Impact factor: Publication type: Paper in international publication Authors: Barbosa-Desongles, Anna; de Torres, Ines; Hurtado, Antoni; Morote, Joan; Munell, Francina; Pinos, Tomas; Reventos, Jaume; Santamaria-Martinez, Albert et al. DOI: 10.1186/1471-2199-10-59
PMID: 19368856 Journal: NEUROSCIENCE LETTERS Year: 2009 Reference: Neurosci Lett. 2009 May 15;455(2):105-9. Impact factor: Publication type: Paper in international publication Authors: Cormand, Bru; Corominas, Roser; Cuenca-Leon, Ester; del Toro, Mireia; Fernandez-Fernandez, Jose M; Macaya, Alfons; Narberhaus, Bernat; Ribases, Marta; Roig, Manuel; Serra, Selma A et al. DOI: 10.1016/j.neulet.2009.03.011
PMID: 19223608 Journal: PHYSIOLOGICAL GENOMICS Year: 2009 Reference: Physiol Genomics. 2009 Apr 10;37(2):119-32. Impact factor: Publication type: Paper in international publication Authors: Ceron, Julian; Marotta, Mario; Munell, Francina; Nunez, Fatima; Peiro, Jose Luis; Roig-Quilis, Manuel; Ruiz-Roig, Claudia; Sarria, Yaris et al. DOI: 10.1152/physiolgenomics.90370.2008
PMID: 19175383 Journal: EUROPEAN JOURNAL OF NEUROLOGY Year: 2009 Reference: Eur J Neurol. 2009 Mar;16(3):413-5. Impact factor: Publication type: Paper in international publication Authors: Cormand, B; Corominas, R; Cuenca-Leon, E; Macaya, A; Ribases, M et al. DOI: 10.1111/j.1468-1331.2008.02499.x
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.
