In 2022 the Pediatric Neurology group remained committed to the development and implementation of advanced therapies for Rare Neurological Diseases, including spinal muscular atrophy, alpha2-laminin deficiency, thymidine kinase deficiency, metachromatic leukodystrophy, mucopolysaccharidoses and other lysosomal storage disorders. We carried several phase I and II trials for Duchenne Muscular Dystrophy and SMA gene therapies. We have consolidated the main Pediatric Neurostimulation Program in the country. This is connected to our research in genetics of primary dystonia which has helped identifying the cases responsive to this revolutionary therapy. Four members of the group are representatives at three European Reference Networks and coordinate working groups thereof. The group is one of the main contributors to Solve-RD project, a European initiative using deep phenotyping and multi-omics to tackle the genetic basis of undiagnosed rare disorders.
Group Leader
Alfons Macaya Ruíz
Principal Investigator (PI)
Francina Munell Casadesús, Belén Pérez Dueñas, Mireia del Toro Riera, David Gómez Andrés
Researchers
Miquel Raspall Chaure, Ana Felipe Rucián, Júlia Sala Coromina, Laura Costa Comellas, Lucy Doygherty de Migue
PhD Students
Ana Laura Cazurro Gutiérrez, Ainara Salazar Villacorta, Julia Ferrero Turrion
Nursing and Technical Staff
Miguel Somalo Ipiens
23
PUBLICATIONS
65.2%
%Q1
190
IMPACT FACTOR
8.25
AVERAGE IMPACT FACTOR
SELECTED ARTICLES
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders
Mov Disord. 2022 Nov;37(11):2197-2209.
DOI: doi: 10.1002/mds.29182
IF: 9.968
Zanin M, Olivares F, Pulido-Valdeolivas I, Rausell E, Gomez-Andres D.
Gait analysis under the lens of statistical physics
Comput Struct Biotechnol J. 2022 Jun 18;20:3257-3267
DOI: doi: 10.1016/j.csbj.2022.06.022
IF: 6.155
Baide-Mairena H, Marti-Sánchez L, Marcé-Grau A, Cazurro-Gutiérrez A, Sanchez-Montanez A, Delgado I, Moreno-Galdó A, Macaya-Ruiz A, García-Arumí E, Pérez-Dueñas B
Childhood Basal Ganglia Disease Group. Genetic diagnosis of basal ganglia disease in childhood
Dev Med Child Neurol. 2022 Jun;64(6):743-752.
DOI: doi: 10.1111/dmcn.15125
IF: 4.864
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
J Neurol. 2022 May;269(5):2414-2429
DOI: doi: 10.1007/s00415-021-10806-0
IF: 6.682
Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Mondragón Rezola E, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltrán S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A; GWMD working group.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology. 2022 Mar 1;98(9):e912-e923
DOI: doi: 10.1212/WNL.0000000000013278
IF: 11.8
Improved diagnostic output in large sarcomeric genes
Principal Investigator: Francina Munell Casadesus
Agency: Instituto de Salud Carlos III
Funding: 73,205 €
Period: 2019-2022
Development of a novel gene therapy strategy and clinical trial readiness of a cohort of patients with merosin-deficient congenital muscular dystrophy
Principal Investigator: Jordi Barquinero Mañez, Francina Munell Casadesus
Agency: Instituto de Salud Carlos III
Funding: 139,150 €
Period: 2019-2022
Evaluation of NGS candidate genes causality in developmental epileptic encephalopathies
Principal Investigator: Alfons Macaya Ruiz
Agency: Instituto de Salud Carlos III
Funding: 162,000 €
Period: 2021-2023
Enfermedades minoritarias causantes de degeneración de ganglios basales en pedriatría: implemementación combinada del análisis genómico y de biomarcadores
Principal Investigator: Belen Perez Dueñas
Agency: Instituto de Salud Carlos III
Funding: 196,020 €
Period: 2019 - 2022
Trastornos del movimiento en la edad pediátrica
Principal Investigator: Belen Perez Dueñas
Agency: Instituto de Salud Carlos III
Funding: 108,328.95 €
Period: 2022 - 2024
eCOREs
