eCORE
- Woman & Child Health & Rare Diseases
Team
Group Leader
Alfons Macaya Ruíz
Principal Investigator (PI)
Francina Munell Casadesús, Belén Pérez Dueñas, Mireia del Toro Riera, David Gómez Andrés
Researchers
Edgard Verdura Peralta, Anna Marcé Grau, Miquel Raspall Chaure, Ana Felipe Rucián, Júlia Sala Coromina, Laura Costa Comellas, Lucy Dougherty de Miguel, Angel Somalo Ipiens
PhD Students
Ana Laura Cazurro Gutiérrez, Ainara Salazar Villacorta, Julia Ferrero Turrion
Nursing and Technical Staff
Gabriela Urcuyo Delgado, Ana Gabriela Lungo Peccorini
Publications
Correa-Vela M, Carvalho J, Ferrero-Turrion J, Cazurro-Gutiérrez A, Vanegas M, Gonzalez V, Alvárez R, Marcé-Grau A, Moreno A, Macaya-Ruiz A, Pérez-Dueñas B.
Early recognition of SGCE-myoclonus-dystonia in children.
Dev Med Child Neurol. 2023 Feb;65(2):207-214
DOI: 10.1111/dmcn.15298
IF: 4.9
Schluter A, Velez-Santamaria V, Verdura E, Rodriguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martinez JJ, Homedes-Pedret C, Alberti-Aguilo MA, Zulaika M, Marti I, Troncoso M, Tomas-Vila M, Bullich G, Garcia-Perez MA, Sobrido-Gomez MJ, Lopez-Laso E, Fons C, Del Toro M, Macaya A, Beltran S, Gutierrez-Solana LG, Perez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A, Garcia-Cazorla A, Ortiz-Martinez AJ, Ignacio-Ortez C, Caceres-Marzal C, Martinez-Salcedo E, Mondragon E, Barredo E, Airaldi IA, Martinez JR, Ramos JAF, Vazquez JF, Diez-Porras L, Vazquez-Cancela M, O'Callaghan M, Sanchez TP, Nedkova V, Perez AIM
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome Med. 2023 Sep 7;15(1):68
DOI: 10.1186/s13073-023-01214-2.
IF: 15.27
Salpietro V, Galassi-Deforie V, Efthymiou S, O'Connor E, Marce-Grau A, Maroofian R, Striano P, Zara F, Morrow M, Reich A, Blevins A, Sala-Coromina J, Accogli A, Fortuna S, Alesandrini M, Au PYB, Singhal NS, Cogne B, Isidor B, Hanna MG, Macaya A, Kullmann DM, Houlden H, Mannikko R
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.
Epilepsia. 2023 Feb;64(2):443-455.
DOI: 10.1111/epi.17455.
IF: 6.74
Vila-Pueyo M, Cuenca-Leon E, Queiros AC, Kulis M, Sintas C, Cormand B, Martin-Subero JI, Pozo-Rosich P, Fernandez-Castillo N, Macaya A
Genome-wide DNA methylation analysis in an antimigraine-treated preclinical model of cortical spreading depolarization.
Cephalalgia. 2023 Feb;43(2):3331024221146317.
DOI: 10.1177/03331024221146317.
IF: 6.08
Mohassel P, Yun P, Syeda S, Batra A, Bradley AJ, Donkervoort S, Monges S, Cohen JS, Leung DG, Munell F, Ortez C, Sanchez-Montanez A, Karachunski P, Brandsema J, Medne L, Chaudhry V, Tasca G, Foley AR, Udd B, Arai AE, Walter GA, Bonnemann CG
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy
Ann Clin Transl Neurol. 2023 Jul 22.
DOI: 10.1002/acn3.51834.
IF: 5.43
Projects
Trastornos del movimiento en la edad pediátrica
Principal Investigator: Belen Perez Dueñas
Agency: Instituto de Salud Carlos III
Funding: 125,840 €
Period: 2022-2024
Mejora del rendimiento diagnóstico en genes sarcoméricos de gran tamaño
Principal Investigator: Francina Munell Casadesús
Agency: Instituto de Salud Carlos III
Funding: 73,205 €
Period: 2021-2023
Evaluation of NGS candidate genes causality in developmental epileptic encephalopathies
Principal Investigator: Alfons Macaya Ruiz
Agency: Instituto de Salud Carlos III
Funding: 196,020 €
Period: 2021-2023
Desarrollo de una nueva estrategia de terapia génica y adecuación de una cohorte de pacientes para ensayos clínicos en distrofia muscular congénita por déficit de merosina
Principal Investigator: Jordi Barquinero Máñez
Agency: Instituto de Salud Carlos III
Funding: 139,150 €
Period: 2021-2024