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: 37963467 Journal: Med Year: 2023 Reference: Med. 2023 Nov 9:S2666-6340(23)00334-3. doi: 10.1016/j.medj.2023.10.003. Impact factor: Publication type: Paper in international publication Authors: Adam, Margaret P; Agarwal, Neeraj; Barnicle, Alan; Blau, Hannah; Carmody, Leigh C; Chan, Lauren E; Chi, Kim N; de Bono, Johann S; Fizazi, Karim; Gargano, Michael A et al. DOI: 10.1016/j.medj.2023.10.003
PMID: 37988272 Journal: BRAIN Year: 2023 Reference: Brain. 2023 Nov 21:awad396. doi: 10.1093/brain/awad396. Impact factor: Publication type: Paper in international publication Authors: Anke, Audny; Beer, Ronny; Bellander, Bo-Michael; Beqiri, Erta; Boxer, Adam L; Buki, Andras; Cabeleira, Manuel; Carbonara, Marco; Chieregato, Arturo; Citerio, Giuseppe et al. DOI: 10.1093/brain/awad396
PMID: 37997866 Journal: Revista Espanola de Quimioterapia Year: 2023 Reference: Rev Esp Quimioter. 2023 Nov;36 Suppl 1:22-24. doi: 10.37201/req/s01.06.2023. Epub 2023 Nov 24. Impact factor: Publication type: Paper in international publication Authors: Boxer, Adam L; de Leon, Jessica; Ezzes, Zoe; Gomez-Andres, David; Gorno-Tempini, Maria Luisa; Grinberg, Lea T; Henry, Maya L; Illan-Gala, Ignacio; Kramer, Joel H; Len, O et al. DOI: 10.37201/req/s01.06.2023
PMID: 38016858 Journal: Anales de pediatria Year: 2023 Reference: An Pediatr (Engl Ed). 2023 Nov 27:S2341-2879(23)00255-7. doi: 10.1016/j.anpede.2023.09.014. Impact factor: Publication type: Paper in international publication Authors: Aceituno-Lopez, Maria Angeles; Asmarats, Luis; Avvedimento, Marisa; Belahnech, Yassin; Bonnet, Guillaume; Camprodon-Gomez, Maria; Cheema, Asim N; De La Torre Hernandez, Jose M; Del-Toro-Riera, Mireia; Esposito, Giovanni et al. DOI: 10.1016/j.anpede.2023.09.014
PMID: 35569879 Journal: JOURNAL OF MOLECULAR DIAGNOSTICS Year: 2022 Reference: J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. Impact factor: Publication type: Paper in international publication Authors: Alias, Laura; Alvarez-Mora, Maria Isabel; Amador, Daniel Pico; Arjona, Cesar; Armstrong, Judith; Artuch, Rafael; Aznar, Gemma; Balcells, Susanna; Bayes, Monica; Beltran, Sergi et al. DOI: 10.1016/j.jmoldx.2022.02.003
PMID: 34559299 Journal: JOURNAL OF NEUROLOGY Year: 2022 Reference: J Neurol. 2022 May;269(5):2414-2429. doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24. Impact factor: Publication type: Paper in international publication Authors: Amthor, Helge; Benezit, Audrey; Beroud, Christophe; Carlier, Robert Y; Castiglioni, Claudia; Cavassa, Eliana; Costa Comellas, Laura; Dabaj, Ivana; Fattori, Fabiana; Gomez Garcia de la Banda, Marta et al. DOI: 10.1007/s00415-021-10806-0
PMID: 35425725 Journal: Frontiers in Pediatrics Year: 2022 Reference: Front Pediatr. 2022 Mar 29;10:876688. doi: 10.3389/fped.2022.876688. eCollection 2022. Impact factor: Publication type: Paper in international publication Authors: Colon, Cristobal; Couce, Maria L; Crujeiras, Pablo; de Castro, Maria Jose; Del Toro, Mireia; Duat-Rodriguez, Anna; Marco, Ana Victoria; Rodrigues, Daniel et al. DOI: 10.3389/fped.2022.876688
PMID: 35387391 Journal: Journal of Multidisciplinary Healthcare Year: 2022 Reference: J Multidiscip Healthc. 2022 Mar 25;15:553-566. doi: 10.2147/JMDH.S251863. eCollection 2022. Impact factor: Publication type: Review in international publication Authors: Del Toro Riera, Mireia; Grikiniene, Jurgita; Monavari, Ahmad Ardeshir; Praninskiene, Ruta; Samaitiene-Alekniene, Ruta; Sykut-Cegielska, Jolanta; Tumiene, Birute et al. DOI: 10.2147/JMDH.S251863
PMID: 34087982 Journal: Stem Cell Research Year: 2021 Reference: Stem Cell Res. 2021 May;53:102338. doi: 10.1016/j.scr.2021.102338. Epub 2021 Apr 15. Impact factor: Publication type: Paper in international publication Authors: Correa-Vela, Marta; Darling, Alejandra; Erceg, Slaven; Espinos, Carmen; Garcia-Navas, Deyanira; Machuca, Candela; Perez-Duenas, Belen; Sanchez-Alcazar, Jose Antonio; Villalon-Garcia, Irene et al. DOI: 10.1016/j.scr.2021.102338
PMID: 34074315 Journal: Orphanet Journal of Rare Diseases Year: 2021 Reference: Orphanet J Rare Dis. 2021 Jun 1;16(1):246. doi: 10.1186/s13023-021-01855-9. Impact factor: Publication type: Letter or abstract Authors: Bembi, Bruno; Dali, Christine I; Day, Simon; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Gronborg, Sabine; Grunewald, Stephanie; Guldberg, Christina; Heron, Benedicte et al. DOI: 10.1186/s13023-021-01855-9
PMID: 34051804 Journal: Journal of Neuroinflammation Year: 2021 Reference: J Neuroinflammation. 2021 May 29;18(1):121. doi: 10.1186/s12974-021-02160-9. Impact factor: Publication type: Paper in international publication Authors: Ayzenberg, Ilya; Bennett, Jeffrey L; Felipe-Rucian, Ana; Gold, Ralf; Havla, Joachim; Hellwig, Kerstin; Joachim, Stephanie C; Kleiter, Ingo; Krumbholz, Markus; Kumpfel, Tania et al. DOI: 10.1186/s12974-021-02160-9
PMID: 33973055 Journal: CHILDS NERVOUS SYSTEM Year: 2021 Reference: Childs Nerv Syst. 2021 Sep;37(9):2799-2806. doi: 10.1007/s00381-021-05201-z. Epub 2021 May 10. Impact factor: Publication type: Paper in international publication Authors: Durduran, Turgut; Gomariz, Laura; Maruccia, Federica; Paredes-Carmona, Fernando; Poca, Maria A; Rosas, Katiuska; Sahuquillo, Juan et al. DOI: 10.1007/s00381-021-05201-z
PMID: 32460617 Journal: JOURNAL OF NEUROTRAUMA Year: 2020 Reference: J Neurotrauma. 2020 Dec 1;37(23):2569-2579. doi: 10.1089/neu.2019.6965. Epub 2020 Jul 7. Impact factor: Publication type: Paper in international publication Authors: Baguena, Marcelino; Cano, Paola; Durduran, Turgut; Fischer, Jonas Benedikt; Ghouse, Ameer; Maruccia, Federica; Poca, Maria A Dr; Rey-Perez, Anna; Sahuquillo, Juan; Tagliabue, Susanna et al. DOI: 10.1089/neu.2019.6965
PMID: 32410642 Journal: Orphanet Journal of Rare Diseases Year: 2020 Reference: Orphanet J Rare Dis. 2020 May 14;15(1):114. doi: 10.1186/s13023-020-01382-z. Impact factor: Publication type: Paper in international publication Authors: Del Toro Riera, Mireia; Gevorkyan, Anait K; Hendriksz, Christian J; Lampe, Christina; Lobzhanidze, Tinatin V; Perez-Lopez, Jordi; Stepien, Karolina M; Tol, Govind; Vashakmadze, Nato D et al. DOI: 10.1186/s13023-020-01382-z
PMID: 32335897 Journal: CLINICAL GENETICS Year: 2020 Reference: Clin Genet. 2020 Jul;98(1):91-98. doi: 10.1111/cge.13765. Epub 2020 May 15. Impact factor: Publication type: Paper in international publication Authors: De Franco, Elisa; Del Toro, Mireia; Ellard, Sian; Fourcade, Stephane; Frank, Julie; Iascone, Maria; Lewandowski, Raymond; Li, Rachel; Loong, Lucy; Maitz, Sylvia et al. DOI: 10.1111/cge.13765
PMID: 32307558 Journal: NEURORADIOLOGY Year: 2020 Reference: Neuroradiology. 2020 Jul;62(7):851-860. doi: 10.1007/s00234-020-02421-z. Epub 2020 Apr 19. Impact factor: Publication type: Paper in international publication Authors: de Miquel, Maria Angeles; Delgado-Alvarez, Ignacio; Dmytriw, Adam A; Felipe-Rucian, Ana; Macaya, Alfons; Parra-Farinas, Carmen; Ribo, Marc; Sanchez-Montanez, Angel; Sola, Teresa; Tomasello, Alejandro et al. DOI: 10.1007/s00234-020-02421-z
PMID: 31125140 Journal: ANNALS OF NEUROLOGY Year: 2019 Reference: Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17. Impact factor: Publication type: Paper in international publication Authors: Aguirre-Rodriguez, Francisco Javier; Del Vayo, Concepcion Alvarez; Dominguez-Gonzalez, Cristina; Donati, M Alice; Engelstad, Kristen; Garone, Caterina; Hirano, Michio; Jimenez-Mallebrera, Cecilia; Kalko, Susana G; Kleinsteuber, Karin et al. DOI: 10.1002/ana.25506
PMID: 31095747 Journal: JOURNAL OF INHERITED METABOLIC DISEASE Year: 2019 Reference: J Inherit Metab Dis. 2019 Jul;42(4):581-597. doi: 10.1002/jimd.12125. Epub 2019 Jun 24. Impact factor: Publication type: Review in international publication Authors: Baide-Mairena, Heidy; Marce-Grau, Anna; Marti-Sanchez, Laura; Ortigoza-Escobar, Juan Dario; Perez-Duenas, Belen et al. DOI: 10.1002/jimd.12125
PMID: 31081514 Journal: BRAIN Year: 2019 Reference: Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107. Impact factor: Publication type: Paper in international publication Authors: Banka, Siddharth; Beeson, David; Carr, Aisling; Chow, Gabriel; Conti Reed, Umbertina; Cossins, Judith; De Goede, Christian; de Paula Estephan, Eduardo; Dusl, Marina; Fraser, Harry et al. DOI: 10.1093/brain/awz107
PMID: 31037244 Journal: Neurophotonics Year: 2019 Reference: Neurophotonics. 2019 Apr;6(2):025004. doi: 10.1117/1.NPh.6.2.025004. Epub 2019 Apr 23. Impact factor: Publication type: Paper in international publication Authors: Avtzi, Stella; Camps-Renom, Pol; Cotta, Gianluca; Delgado-Mederos, Raquel; Durduran, Turgut; Giacalone, Giacomo; Gregori-Pla, Clara; Marti-Fabregas, Joan; Martinez-Domeno, Alejandro; Maruccia, Federica et al. DOI: 10.1117/1.NPh.6.2.025004
PMID: 29558773 Journal: NEUROPEDIATRICS Year: 2018 Reference: Neuropediatrics. 2018 Jun;49(3):193-199. doi: 10.1055/s-0038-1637738. Epub 2018 Mar 20. Impact factor: Publication type: Paper in international publication Authors: Ebrahimi-Fakhari, Daniel; Flotats-Bastardas, Marina; Gortner, Ludwig; Macaya-Ruiz, Alfons; Meyer, Sascha; Poryo, Martin; Zemlin, Michael et al. DOI: 10.1055/s-0038-1637738
PMID: 29557550 Journal: REVISTA DE NEUROLOGIA Year: 2018 Reference: Rev Neurol. 2018 Apr 1;66(7):241-250. Impact factor: Publication type: Review in national publication Authors: Munell, F; Roig-Quilis, M; Tormos, M A et al. DOI: 10.33588/rn.6607.2017273
PMID: 29237192 Journal: NEUROPEDIATRICS Year: 2018 Reference: Neuropediatrics. 2018 Apr;49(2):104-111. doi: 10.1055/s-0037-1609036. Epub 2017 Dec 13. Impact factor: Publication type: Paper in international publication Authors: Boronat, S; Delgado, I; Felipe, A; Julia-Palacios, N; Macaya, A et al. DOI: 10.1055/s-0037-1609036
PMID: 29506905 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2018 Reference: Eur J Paediatr Neurol. 2018 May;22(3):369-379. doi: 10.1016/j.ejpn.2018.02.007. Epub 2018 Feb 16. Impact factor: Publication type: Paper in international publication Authors: Abdenur, Jose; Anastasi, Arnaud; Ballhausen, Diana; Billette de Villemeur, Thierry; Buoni, Sabrina; Chan, Alicia; Cheillan, David; Dorison, Nathalie; Goldenberg, Alice; Goldstein, Jennifer et al. DOI: 10.1016/j.ejpn.2018.02.007
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: 28202703 Journal: NEUROLOGY Year: 2017 Reference: Neurology. 2017 Mar 14;88(11):1012-1020. doi: 10.1212/WNL.0000000000003713. Epub 2017 Feb 15. Impact factor: Publication type: Paper in international publication Authors: Armangue, Thais; Barcelo Artigues, Maria I; Benson, Leslie; Caparo Oblitas, Ruben L; Castro, Fernanda J; Dalmau, Josep; Felipe, Ana; Gorman, Mark; Graus, Francesc; Julia Benique, Maria R et al. DOI: 10.1212/WNL.0000000000003713
PMID: 28074997 Journal: REVISTA DE NEUROLOGIA Year: 2017 Reference: Rev Neurol. 2017 Jan 16;64(2):49-54. Impact factor: Publication type: Paper in national publication Authors: Gonzalez-Cuevas, M; Quintana, M; Raspall-Chaure, M; Sala-Padro, J; Salas-Puig, J; Santamarina, E; Sueiras-Gil, M; Toledo, M et al. DOI: 10.33588/rn.6402.2016219
PMID: 28139410 Journal: ANALES DE PEDIATRIA Year: 2017 Reference: An Pediatr (Barc). 2017 Mar;86(3):107-109. doi: 10.1016/j.anpedi.2017.01.001. Epub 2017 Jan 27. Impact factor: Publication type: Review in national publication Authors: Felipe-Rucian, Ana; Macaya, Alfons et al. DOI: 10.1016/j.anpedi.2017.01.001
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.
