Costa-Comellas L, Monforte M, Sanchez-Montañez A, Romero-Duque P, Pegoraro E, Díaz-Manera J, Vlodavets D, Maggi L, Moscatelli M, D'Amico A, Olivé M, Alonso-Pérez J, Comi G, Escudero-Fernández JM, Urcuyo GS, Pichiecchio A, Berardinelli A, Claeys KG, Bruno C, Panicucci C, Bortolani S, Torchia E, Ricci E, Monges S, Bevilacqua JA, Diaz-Jara J, Walter MC, Thiele S, Løkken N, Vissing J, Quijano-Roy S, Carlier RY, Voermans NC, Marini-Bettolo C, Guglieri M, Straub V, Leonardis L, Munell F, Gómez-Andrés D, Tasca G.
Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Ann Clin Transl Neurol. 2025 Dec 31
DOI: 10.1002/acn3.70303
IF: 3.9
RESEARCH GROUPS
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Number of publications
% Q1
% D1
% Leadership
% Female Leadership
CROWN (2021-2025)
HCP10% (2021-2025)
% Open access
% International Collaboration
Highly cited papers / HCP 1% (2021-2025)
Publications in high-IF journals with high Altmetric scores
Number of Ongoing Projectes (total)
International ongoing projects
Number of New projects (total)
International new projects
Number of Active clinical Trials
Number of New Clinical Trials
Number of Theses
CORE/MISSIONS
- AI, Data, Imaging & Digital Health
- Innovative & Advanced Therapies
- Rare Diseases
- Transplant & Immunomodulation
PROGRAMS
TEAM
Group Leader
Belén Pérez Dueñas, David Gómez Andrés
Principal Investigator (PI)
Anna Marcé Grau
Researchers
Maria Victoria González, Lucy Dougherty de Miguel, Ignacio Delgado, Ana Felipe Rucián
PhD Students
Ana Cazurro Gutiérrez, Amaia Lasa Aranzasti, Laura Costa Comella, Júlia Sala Coromina, Marta Folch Benito
Lab Technicians
Álvaro Lucero Garófano, Denisse Moggia Morla
SELECTED PUBLICATIONS
Salazar-Villacorta A, Cazurro-Gutiérrez A, Dougherty-de Miguel L, Ferrero-Turrión J, Marcé-Grau A, Folch-Benito M, Lucero-Garófano Á, Macaya A, Moreno-Galdó A, Vanegas MI, Correa-Vela M, González MV, Español-Martín G, Loredo M, Delgado I, Toro-Tamargo E, Figueroa M, Vilas D, Tardáguila M, Muñoz J, Ispierto L, Álvarez R, Bescós A, Pérez-Dueñas B.
Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.
Mov Disord. 2025 Oct;40(10):2234-2242
DOI: 10.1002/mds.30309
IF: 7.6
Gómez-Andrés D, Costa-Comellas L, Díaz-Manera J, Õunap K, Álvarez-Molinero M, Urcuyo G, Savarese M, Munell F, Udd B.
Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies.
Eur J Neurol. 2025 Oct;32(10):e70348
DOI: 10.1111/ene.70348
IF: 3.9
Vanegas MI, Marcé-Grau A, Cazurro-Gutiérrez A, Hamami F, Timmers ER, Weißbach A, Tijssen MAJ, González V, Miguel LD, Martin M, Benson M, Reinhard C, Pérez-Dueñas B.
Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.
Mov Disord Clin Pract. 2025 Jul;12(7):957-968.
DOI: 10.1002/mdc3.70028
IF: 2.7
De Francesch V, Cazurro-Gutiérrez A, Timmers ER, Español-Martín G, Ferrero-Turrión J, Gómez-Andrés D, Marcé-Grau A, Dougherty-de Miguel L, González V, Moreno-Galdó A, Tijssen MAJ, Pérez-Dueñas B.
Natural history of SGCE-associated myoclonus dystonia in children and adolescents.
Dev Med Child Neurol. 2025 Jun;67(6):740-749
DOI: 10.1111/dmcn.16214
IF: 4.3
SELECTED PROJECTS
Predictores de eficacia clínica, genética y radiológica en niños y adolescentes con distonía tratados mediante estimulación cerebral profunda
Principal Investigator: Belén Pérez Dueñas
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 140,000 €
Period: 2025-2027
Innovative Biomarkers Unveiling Neglected Manifestations and Progression in Female Carriers of DMD Mutations - [INNO-CARRIER]
Principal Investigator: David Gómez Andrés
Agency: Duchenne Parent Project España
Funding: 35,100 €
Period: 2025-2027
PReDICT: Pediatric Stroke Rare Disorders: Integrative Diagnosis and Treatment using Multi-Omics and Deep Learning
Principal Investigator: Belén Pérez Dueñas
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 185,165.07 €
Period: 2025-2026
TACTIC: Exploring solutions to healthcare challenges through disruptive science, advanced therapies and systems medicine.
Principal Investigator: Begoña Benito Villabriga
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 2,494,527.53 €
Period: 2024-2027
Trastornos del movimiento en la edad pediátrica
Principal Investigator: Belén Pérez Dueñas
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 125,840 €
Period: 2022-2026
PATENTS
DISSEMINATION ACTIVITIES
V Curso de neurología pediátrica campus Vall d'Hebron: controversias en neuropediatría (V PEDIATRIC NEUROLOGY COURSE: Controversies in Pediatric Neurology).
Place: Vall d'Hebron University Hospital
Date: 30/10/2025 – 31/10/2025
Brief: Researchers in our group, together with members of the hospital’s Pediatric Neurology Department, organize an annual training course for specialists in pediatric neurology. On this occasion, the course focused on different aspects of daily clinical practice that generate controversy among experts, and included the participation of national and international experts as well as patient associations.
32º Webinar senep “Mecanismos biológicos subyacentes a los trastornos del movimiento hipercinéticos en la edad pediátrica” (Unraveling Biological Mechanisms Underlying Pediatric Hyperkinetic Movement Disorders ). Grupo de Trastornos del Movimiento.
Place: Sociedad Española de Neurología Pediátrica (SENEP) - Online webinar
Date: 19/11/2025
Brief: A researcher from our group delivered this seminar, which addressed current knowledge and ongoing research projects related to the underlying biological mechanisms of hyperkinetic movement disorders, and specifically dystonia.
Phenotypic complexity as a key predictor of DBS response in children beyond etiology. 16th European Paediatric Neurology Society Congress (EPNS 2025).
Place: Munich, Germany
Date: 08/07/2025-12/07/2025
Brief: A researcher from our group presented the most relevant results of a project aimed at identifying biomarkers that can predict efficacy of deep brain stimulation surgery in pediatric patients affected by movement disorders.
Motor evolution in lama2-rd: a natural history cohort. 16th European Paediatric Neruology Society Congress (EPNS 2025).
Place: Munich, Germany
Date: 08/07/2025-12/07/2025
Brief: A researcher from our group presented the most relevant results of the natural history study of patients with LAMA2 deficiency.
Lessons from Pediatric Movement Disorders inherited dystonias with targeted therapies. LXXVII Reunion Anual de la Sociedad Española de Neurología (RASEN 2025).
Place: Sevilla
Date: 18/10/2025-22/10/2025
Brief: A researcher from our group participated in the Movement Disorders Group session of the Spanish Neurological Society (SEN), entitled “Translating neurobiology into therapeutics in movement disorders: the ongoing experience in dystonia and Parkinson’s disease”, where she discussed targeted therapies currently used in pediatric movement disorders.
