Gutschmidt, K, Musumeci, O, Diaz-Manera, J, Chien, YH, Knop, KC, Wenninger, S, Montagnese, F, Pugliese, A, Tavilla, G, Alonso-Perez, J, Hwu, PWL, Toscano, A, Schoser, B. STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. JOURNAL OF NEUROLOGY. 2021; 268(7)DOI:10.1007/s00415-021-10409-9. PMID:33543425. IF:6.682(Q1/2D).

Conde-Blanco, E, Reyes-Leiva, D, Pintor, L, Donaire, A, Manzanares, I, Rumia, J, Roldan, P, Boget, T, Bargallo, N, Gil-Lopez, FJ, Khawaja, M, Setoain, X, Centeno, M, Carreno, M. Psychotic symptoms in drug resistant epilepsy patients after cortical stimulation. EPILEPSY RESEARCH. 2021; 173DOI:10.1016/j.eplepsyres.2021.106630. PMID:33865048. IF:2.991(Q3/7D).

Artola, M, Hernando, A, Vidal, O, Vidal, N, Cuenca, E, Horno, R, Robles, MA, Oriol, C, Peralta, S, Solana, MAJ, Rubio, M, Montero, C, Lleixa, M, Zabay, C, Martin, M, Leon, I, Molinos, C, Matamoros, M, Mercade, L, Fornali, O, Montero, L, Saiz, A, Sola-Valls, N. The role of specialist nurses in detecting spasticity and related symptoms in multiple sclerosis. JOURNAL OF CLINICAL NURSING. 2023; 32(13-14)DOI:10.1111/jocn.16421. PMID:35799407. IF:3.200(Q1/1D).

Weihl C.C., Topf, A, Bengoechea R., Duff J., Charlton R., Garcia S.K., Domínguez-González C., Alsaman A., Hernández-Laín A., Franco L.V., Sanchez, MEP, Beecroft S.J., Goullee H., Daw J., Bhadra A., True H., Inoue M., Findlay A.R., Laing N., Olivé M., Ravenscroft G., Straub V.. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. ACTA NEUROPATHOLOGICA. 2023; 145(1)DOI:10.1007/s00401-022-02510-8. PMID:36264506. IF:9.300(Q1/1D).

Ranta-aho, J, Olive, M, Vandroux, M, Roticiani, G, Dominguez, C, Johari, M, Torella, A, Bohm, J, Turon, J, Nigro, V, Hackman, P, Laporte, J, Udd, B, Savarese, M. Mutation update for the ACTN2 gene. HUMAN MUTATION. 2022; 43(12)DOI:10.1002/humu.24470. PMID:36116040. IF:3.900(Q2/3D).

Moore, U, Araujo, ECD, Reyngoudt, H, Gordish-Dressman, H, Smith, FE, Wilson, I, James, M, Mayhew, A, Rufibach, L, Day, JW, Jones, KJ, Bharucha-Goebel, DX, Salort-Campana, E, Pestronk, A, Walter, MC, Paradas, C, Stojkovic, T, Mori-Yoshimura, M, Bravver, E, Pegoraro, E, Mendell, JR, Bushby, K, Blamire, AM, Straub, V, Carlier, PG, Diaz-Manera, J. Water T2 could predict functional decline in patients with dysferlinopathy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(6)DOI:10.1002/jcsm.13063. PMID:36058852. IF:8.900(Q1/1D).

Poyatos-Garcia, J, Marti, P, Liquori, A, Muelas, N, Pitarch, I, Martinez-Dolz, L, Rodriguez, B, Gonzalez-Quereda, L, Damia, M, Aller, E, Selva-Gimenez, M, Vilchez, R, Diaz-Manera, J, Alonso-Perez, J, Barcena, JE, Jauregui, A, Gamez, J, Aladren, JA, Fernandez, A, Montolio, M, Azorin, I, Hervas, D, Casasus, A, Nieto, M, Gallano, P, Sevilla, T, Vilchez, JJ. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. ANNALS OF NEUROLOGY. 2022; 92(5)DOI:10.1002/ana.26461. PMID:35897138. IF:11.200(Q1/1D).

Lokken, N, Revsbech, KL, Jacobsen, LN, Martinuzzi, A, Martin, MA, Diaz-Manera, J, Dominguez-Gonzalez, C, Brondani, G, Musumeci, O, Granata, F, Stefan, C, Merino-Sanchez, C, Peralta, CN, Khawajazada, T, Alonso-Perez, J, Toscano, A, Vissing, J. Muscle MRI in McArdle Disease A European Multicenter Observational Study. NEUROLOGY. 2022; 99(15)DOI:10.1212/WNL.0000000000200914. PMID:35853747. IF:9.900(Q1/1D).