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.
PMID: 34942136 Journal: LANCET NEUROLOGY Year: 2022 Reference: Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Impact factor: Publication type: Paper in international publication Authors: Abbati, Francesca; Akiyama, Kiyomu; Alemdaroglu, Ipek; Almeida Pereira, Jaqueline; Amorelli, Giulia Maria; Arnoldi, Maria Teresa; Arpin, Stephanie; Ayse Karaduman, Aynur; Balikova, Irina; Balikova, Irina et al. DOI: 10.1016/S1474-4422(21)00367-7
PMID: 34942136 Journal: LANCET NEUROLOGY Year: 2022 Reference: Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Impact factor: 44.182 Publication type: Paper in international publication Authors: Goemans, Nathalie; Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile et al. DOI: 10.1016/S1474-4422(21)00367-7
PMID: 34988976 Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY Year: 2022 Reference: Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5. Impact factor: 5.449 Publication type: Paper in international publication Authors: Baide-Mairena, Heidy; Marti-Sanchez, Laura; Marce-Grau, Anna; Cazurro-Gutierrez, Ana; Sanchez-Montanez, Angel; Delgado, Ignacio; Moreno-Galdo, Antonio; Macaya-Ruiz, Alfons; Garcia-Arumi, Elena; Perez-Duenas, Belen et al. DOI: 10.1111/dmcn.15125
PMID: 35766460 Journal: CLINICAL PEDIATRICS Year: 2022 Reference: Clin Pediatr (Phila). 2022 Jun 29:99228221106429. doi: 10.1177/00099228221106429. Impact factor: 1.168 Publication type: Paper in international publication Authors: Erika, Arno; Alfons, Macaya; Ignacio, Delgado-Alvarez; Ana, Felipe-Rucian; Jorgina, Vila; Duna, Casadesus-Cabral et al. DOI: 10.1177/00099228221106429
PMID: 33833726 Journal: Frontiers in Neurology Year: 2021 Reference: Front Neurol. 2021 Mar 23;12:630378. doi: 10.3389/fneur.2021.630378. eCollection 2021. Impact factor: Publication type: Paper in international publication Authors: Belousova, Elena; Benedik, Mirjana P; Budde, Klemens; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D'Amato, Lisa; d'Augeres, Guillaume B; Dahlin, Maria; de Vries, Petrus J et al. DOI: 10.3389/fneur.2021.630378
PMID: 33349592 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2021 Reference: Eur J Paediatr Neurol. 2021 Jan;30:144-154. doi: 10.1016/j.ejpn.2020.10.004. Epub 2020 Oct 20. Impact factor: Publication type: Paper in international publication Authors: Ben Zeev, Bruria; Berkowitz, Oren; Bertini, Enrico; Blumkin, Lubov; Bosco, Luca; Cayron, Lital Bachar; Duenas, Belen Perez; Gur-Hartman, Tamar; Hassin, Sharon; Heimer, Gali et al. DOI: 10.1016/j.ejpn.2020.10.004
PMID: 32677093 Journal: JOURNAL OF INHERITED METABOLIC DISEASE Year: 2021 Reference: J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16. Impact factor: Publication type: Paper in international publication Authors: Aguilera-Albesa, S; Aldamiz-Echevarria, L; Arranz, A; Artuch, R; Baide-Mairena, H; Carrozzo, R; Correa-Vela, M; Del Toro, M; Delgado, I; Dionisi-Vici, C et al. DOI: 10.1002/jimd.12288
PMID: 33752678 Journal: Orphanet Journal of Rare Diseases Year: 2021 Reference: Orphanet J Rare Dis. 2021 Mar 22;16(1):145. doi: 10.1186/s13023-021-01777-6. Impact factor: Publication type: Letter or abstract Authors: Atalaia, Antonio; Beltran, Sergi; Bonne, Gisele; Bros-Facer, Virginie; Carmody, Leigh; Chinnery, Patrick; Corvo, Alberto; Desaphy, Jean-Francois; Evangelista, Teresinha; Fontaine, Bertrand et al. DOI: 10.1186/s13023-021-01777-6
PMID: 33629063 Journal: Brain communications Year: 2020 Reference: Brain Commun. 2020 Oct 26;2(2):fcaa178. doi: 10.1093/braincomms/fcaa178. eCollection 2020. Impact factor: 0 Publication type: Paper in international publication Authors: Livingston, John, Kurian, Manju, Chong, W Kling, Dale, Russell C, Hayflick, Susan, Wassmer, Evangeline, Webster, Richard I, Prelog, Kristina, Mohammad, Shekeeb S, Biggin, Andrew et al. DOI: 10.1093/braincomms/fcaa178
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: 2.889 Publication type: Review in international publication Authors: Krageloh-Mann, Ingeborg, Landwehrmeyer, G Bernhard, Leber, Isabelle, Macaya, Alfons, Mariotti, Caterina, Meissner, Wassilios G, Molnar, Maria Judit, Nonnekes, Jorik, Ortigoza Escobar, Juan Dario, Perez Duenas, Belen et al. DOI: 10.3389/fneur.2020.616569
PMID: 33182294 Journal: Journal of Clinical Medicine Year: 2020 Reference: J Clin Med. 2020 Nov 9;9(11). pii: jcm9113603. doi: 10.3390/jcm9113603. Impact factor: 3.303 Publication type: Paper in international publication Authors: Baz-Redon, Noelia, Rovira-Amigo, Sandra, Fernandez-Cancio, Monica, Castillo-Corullon, Silvia, Cols, Maria, Caballero-Rabasco, M Araceli, Asensio, Oscar, Martin de Vicente, Carlos, Martinez-Colls, Maria Del Mar, Torrent-Vernetta, Alba et al. DOI: 10.3390/jcm9113603
PMID: 33106568 Journal: Scientific Reports Year: 2020 Reference: Sci Rep. 2020 Oct 26;10(1):18291. doi: 10.1038/s41598-020-75500-z. Impact factor: 3.998 Publication type: Paper in international publication Authors: Molero-Luis, Marta, Casas-Alba, Didac, Orellana, Gabriela, Ormazabal, Aida, Sierra, Cristina, Oliva, Clara, Valls, Anna, Velasco, Jesus, Launes, Cristian, Cuadras, Daniel et al. DOI: 10.1038/s41598-020-75500-z
PMID: 30868117 Journal: Epilepsia open Year: 2019 Reference: Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar. Impact factor: Publication type: Paper in international publication Authors: Agranovich, Oleg; Allaire, Catherine; Altunbasak, Sakir; Anlar, Banu; Ann Johnston, Clare; Aparicio, Susana Roldan; Auvin, Stephane; Belousova, Elena; Benedik, Mirjana P; Bermejo, Antonio Martinez et al. DOI: 10.1002/epi4.12286
PMID: 29697822 Journal: NEPHROLOGY DIALYSIS TRANSPLANTATION Year: 2019 Reference: Nephrol Dial Transplant. 2019 Mar 1;34(3):502-508. doi: 10.1093/ndt/gfy063. Impact factor: Publication type: Paper in international publication Authors: Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D' Amato, Lisa; d'Augeres, Guillaume Beaure; Dahlin, Maria; de Vries, Petrus J; Ferreira, Jose C et al. DOI: 10.1093/ndt/gfy063
PMID: 30799092 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2019 Reference: Eur J Paediatr Neurol. 2019 May;23(3):427-437. doi: 10.1016/j.ejpn.2019.02.001. Epub 2019 Feb 14. Impact factor: Publication type: Paper in international publication Authors: Amstrong, Judith; Anagnostopoulou, Katerina; Apostolakopoulou, Loukia; Artuch, Rafael; Bilanakis, Manolis; Dalivigka, Zoi; Fryssira, Helen; Kekou, Kiriaki; Kokkinis, Xaralabos; Kokkinou, Eleftheria et al. DOI: 10.1016/j.ejpn.2019.02.001
PMID: 29771141 Journal: CEPHALALGIA Year: 2019 Reference: Cephalalgia. 2019 Jan;39(1):91-99. doi: 10.1177/0333102418777509. Epub 2018 May 17. Impact factor: Publication type: Paper in international publication Authors: Ajanovic, Sara; Alvarez-Sabin, Jose; Gallardo, Victor Jose; Gomez, Juan Bernardo; Macaya, Alfons; Pozo-Rosich, Patricia; Quintana, Manuel; Torres-Ferrus, Marta; Vila-Sala, Carme et al. DOI: 10.1177/0333102418777509
PMID: 29382362 Journal: Orphanet Journal of Rare Diseases Year: 2018 Reference: Orphanet J Rare Dis. 2018 Jan 30;13(1):28. doi: 10.1186/s13023-018-0758-x. Impact factor: Publication type: Paper in international publication Authors: Aquino, L; Artuch, R; Baide, H; Batllori, M; Darling, A; Duenas, Perez; Kurian, M A; Macaya, A; Marti-Sanchez, L; Molero-Luis, M et al. DOI: 10.1186/s13023-018-0758-x
PMID: 29289522 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2018 Reference: Eur J Paediatr Neurol. 2018 Jan;22(1):56-63. doi: 10.1016/j.ejpn.2017.07.017. Epub 2017 Aug 2. Impact factor: Publication type: Paper in international publication Authors: Grebla, Regina; Kirkham, Fenella J; Lagae, Lieven; Lee, Dawn; Raspall-Chaure, Miquel; Vigevano, Federico; Werner-Kiechle, Tamara; Wilken, Bernd et al. DOI: 10.1016/j.ejpn.2017.07.017
PMID: 29108712 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2018 Reference: Eur J Paediatr Neurol. 2018 Jan;22(1):102-112. doi: 10.1016/j.ejpn.2017.10.006. Epub 2017 Oct 24. Impact factor: Publication type: Paper in international publication Authors: Ballester-Plane, Julia; Gimeno, Francisca; Laporta-Hoyos, Olga; Macaya, Alfons; Melendez-Plumed, Mar; Narberhaus, Ana; Poo, Pilar; Pueyo, Roser; Segarra, Dolors; Toro-Tamargo, Esther et al. DOI: 10.1016/j.ejpn.2017.10.006
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
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.
