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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).