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01/07/2021
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa
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).
01/07/2021
Psychotic symptoms in drug resistant epilepsy patients after cortical stimulation
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).
01/07/2023
The role of specialist nurses in detecting spasticity and related symptoms in multiple sclerosis
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).
01/01/2023
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
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).