Pediatric Neurology

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