Buscar

01/11/2021 European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision
Van den Bergh, PYK, van Doorn, PA, Hadden, RDM, Avau, B, Vankrunkelsven, P, Allen, JA, Attarian, S, Blomkwist-Markens, PH, Cornblath, DR, Eftimov, F, Goedee, HS, Harbo, T, Kuwabara, S, Lewis, RA, Lunn, MP, Nobile-Orazio, E, Querol, L, Rajabally, YA, Sommer, C, Topaloglu, HA. European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision. EUROPEAN JOURNAL OF NEUROLOGY. 2021; 28(11)DOI:10.1111/ene.14959. PMID:. IF:6.288(Q1/2D).
01/11/2021 Fifteen years of enzyme therapy in Pompe disease
Diaz-Manera, J. Fifteen years of enzyme therapy in Pompe disease. REVISTA DE NEUROLOGIA. 2021; 73(9)DOI:10.33588/rn.7309.2021382. PMID:34676531. IF:1.235(Q4/10D).
01/11/2021 Guillain-Barre syndrome after SARS-CoV-2 infection in an international prospective cohort study
Luijten, LWG, Leonhard, SE, van der Eijk, AA, Doets, AY, Appeltshauser, L, Arends, S, Attarian, S, Benedetti, L, Briani, C, Casasnovas, C, Castellani, F, Dardiotis, E, Echaniz-Laguna, A, Garssen, MPJ, Harbo, T, Huizinga, R, Humm, AM, Jellema, K, van der Kooi, AJ, Kuitwaard, K, Kuntzer, T, Kusunoki, S, Lascano, AM, Martinez-Hernandez, E, Rinaldi, S, Samijn, JPA, Scheidegger, O, Tsouni, P, Vicino, A, Visser, LH, Walgaard, C, Wang, YZ, Wirtz, PW, Ripellino, P, Jacobs, BC, Martín-Aguilar L, Zivkovic, Sasa A.. Guillain-Barre syndrome after SARS-CoV-2 infection in an international prospective cohort study. BRAIN. 2021; 144(11)DOI:10.1093/brain/awab279. PMID:34553216. IF:15.255(Q1/1D).
02/10/2021 Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Dominguez-Gonzalez, C, Madruga-Garrido, M, Hirano, M, Marti, I, Martin, MA, Munell, F, Nascimento, A, Olive, M, Quan, J, Sardina, MD, Marti, R, Paradas, C. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency. Orphanet Journal of Rare Diseases. 2021; 16(1)DOI:10.1186/s13023-021-02030-w. PMID:34600563. IF:4.302(Q2/4D).
01/10/2021 Autoimmune nodopathies: treatable neuropathies beyond traditional classifications comment
Querol, L. Autoimmune nodopathies: treatable neuropathies beyond traditional classifications comment. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(10)DOI:10.1136/jnnp-2021-326676. PMID:34400541. IF:13.654(Q1/1D).
01/10/2021 Novel Immunological and Therapeutic Insights in Guillain-Barre Syndrome and CIDP
Querol, L, Lleixa, C. Novel Immunological and Therapeutic Insights in Guillain-Barre Syndrome and CIDP. Neurotherapeutics. 2021; 18(4)DOI:10.1007/s13311-021-01117-3. PMID:34549385. IF:6.088(Q1/2D).
01/10/2021 The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
Bellusci, M, Paredes-Fuentes, AJ, Ruiz-Pesini, E, Gomez, B, Martin, MA, Montoya, J, Artuch, R, Grp, Díaz-Manera J., Gallardo, E. The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call. Genes. 2021; 12(10)DOI:10.3390/genes12101590. PMID:34680984. IF:4.141(Q2/5D).
15/09/2021 Comment to "Autoantibodies to cortactin and agrin in sera of patients with myasthenia gravis"
Cortes-Vicente, E, Alvarez-Velasco, R, Illa, I, Gallardo, E. Comment to "Autoantibodies to cortactin and agrin in sera of patients with myasthenia gravis". JOURNAL OF NEUROIMMUNOLOGY. 2021; 358DOI:10.1016/j.jneuroim.2021.577659. PMID:34273889. IF:3.221(Q3/7D).
01/09/2021 TREAT-NMD stakeholder meeting for natural history studies in limb girdle muscular dystrophy 18th June 2019, Amsterdam, The Netherlands
Guglieri, M, Diaz-Manera, J, Straub, V. TREAT-NMD stakeholder meeting for natural history studies in limb girdle muscular dystrophy 18th June 2019, Amsterdam, The Netherlands. NEUROMUSCULAR DISORDERS. 2021; 31(9)DOI:10.1016/j.nmd.2021.06.011. PMID:34426054. IF:3.538(Q2/5D).
01/09/2021 Serum Contactin-1 in CIDP A Cross-Sectional Study
Wieske, L, Martin-Aguilar, L, Fehmi, J, Lleixa, C, Koel-Simmelink, MJA, Chatterjee, M, van Lierop, Z, Killestein, J, Verhamme, C, Querol, L, Rinaldi, S, Teunissen, CE, Eftimov, F. Serum Contactin-1 in CIDP A Cross-Sectional Study. Neurology-Neuroimmunology & Neuroinflammation. 2021; 8(5)DOI:10.1212/NXI.0000000000001040. PMID:34285092. IF:11.360(Q1/1D).
01/09/2021 European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision
Van den Bergh, PYK, van Doorn, PA, Hadden, RDM, Avau, B, Vankrunkelsven, P, Allen, JA, Attarian, S, Blomkwist-Markens, PH, Cornblath, DR, Eftimov, F, Goedee, HS, Harbo, T, Kuwabara, S, Lewis, RA, Lunn, MP, Nobile-Orazio, E, Querol, L, Rajabally, YA, Sommer, C, Topaloglu, HA. European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2021; 26(3)DOI:10.1111/jns.12455. PMID:34085743. IF:5.188(Q2/3D).
01/09/2021 Charcot-Marie-Tooth disease due to MORC2 mutations in Spain
Sivera, R, Lupo, V, Frasquet, M, Argente-Escrig, H, Alonso-Perez, J, Diaz-Manera, J, Querol, L, Garcia-Romero, MD, Pascual, SI, Garcia-Sobrino, T, Paradas, C, Vazquez-Costa, JF, Muelas, N, Millet, E, Vilchez, JJ, Espinos, C, Sevilla, T. Charcot-Marie-Tooth disease due to MORC2 mutations in Spain. EUROPEAN JOURNAL OF NEUROLOGY. 2021; 28(9)DOI:10.1111/ene.15001. PMID:34189813. IF:6.288(Q1/2D).
01/08/2021 Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering
Alonso-Perez, J, Casasus, A, Gimenez-Munoz, A, Duff, J, Rojas-Garcia, R, Illa, I, Straub, V, Topf, A, Diaz-Manera, J. Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering. NEUROMUSCULAR DISORDERS. 2021; 31(8)DOI:10.1016/j.nmd.2021.04.011. PMID:34210542. IF:3.538(Q2/5D).
29/07/2021 Quantifying the patient ' s perspective in neuromyelitis optica spectrum disorder: Psychometric properties of the SymptoMScreen questionnaire
Meca-Lallana, JE, Maurino, J, Perez-Miralles, F, Forero, L, Sepulveda, M, Calles, C, Martinez-Gines, ML, Gonzalez-Suarez, I, Boyero, S, Romero-Pinel, L, Sempere, AP, Meca-Lallana, V, Querol, L, Costa-Frossard, L, Prefasi, D, Gomez-Ballesteros, R, Ballesteros, J. Quantifying the patient ' s perspective in neuromyelitis optica spectrum disorder: Psychometric properties of the SymptoMScreen questionnaire. PLoS One. 2021; 16(7)DOI:10.1371/journal.pone.0255317. PMID:34324586. IF:3.752(Q2/4D).
13/07/2021 Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests (vol 12, 634766, 2021)
Nunez-Peralta, C, Montesinos, P, Alonso-Jimenez, A, Alonso-Perez, J, Reyes-Leiva, D, Sanchez-Gonzalez, J, Llauger-Rosello, J, Segovia, S, Belmonte, I, Pedrosa, I, Martinez-Noguera, A, Matellini-Mosca, B, Walter, G, Diaz-Manera, J. Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests (vol 12, 634766, 2021). Frontiers in Neurology. 2021; 12DOI:10.3389/fneur.2021.727020. PMID:34326809. IF:4.086(Q2/5D).
03/07/2021 Outcome measures and biomarkers in chronic inflammatory demyelinating polyradiculoneuropathy: from research to clinical practice
Allen, JA, Eftimov, F, Querol, L. Outcome measures and biomarkers in chronic inflammatory demyelinating polyradiculoneuropathy: from research to clinical practice. Expert Review of Neurotherapeutics. 2021; 21(7)DOI:10.1080/14737175.2021.1944104. PMID:34130574. IF:4.287(Q2/4D).
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).