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01/07/2023 The autoimmune vulnerability of the node of Ranvier
Querol, L, Delmont, E, Lleixa, C. The autoimmune vulnerability of the node of Ranvier. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2023; 28DOI:10.1111/jns.12570. PMID:37272737. IF:4.000(Q1/2D).
01/06/2023 An innovative phase 2 proof-of-concept trial design to evaluate SAR445088, a monoclonal antibody targeting complement C1s in chronic inflammatory demyelinating polyneuropathy
Querol, L, Lewis, RA, Hartung, HP, Van Doorn, PA, Wallstroem, E, Luo, XD, Alonso-Alonso, M, Atassi, N, Hughes, RAC. An innovative phase 2 proof-of-concept trial design to evaluate SAR445088, a monoclonal antibody targeting complement C1s in chronic inflammatory demyelinating polyneuropathy. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2023; 28(2)DOI:10.1111/jns.12551. PMID:37119056. IF:4.000(Q1/2D).
03/04/2023 Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain
de Frutos F., Ochoa J.P., Gómez-González C., Reyes-Leiva D., Aróstegui J.I., Casasnovas C., Barriales-Villa R., Sevilla T., Gonzalez-Lopez E., Ramil E., Galan L., González-Costello J., García-Álvarez A., Rojas-Garcia R., Espinosa M.A., Garcia-Pavia P.. Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain. AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS. 2023; 30(2)DOI:10.1080/13506129.2022.2142110. PMID:36343383. IF:5.200(Q1/1D).
01/04/2023 Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease
Vazquez-Costa, JF, Borrego-Hernandez, D, Paradas, C, Gomez-Caravaca, MT, Rojas-Garcia, R, Varona, L, Povedano, M, Garcia-Sobrino, T, Pascual, IJ, Gutierrez, A, Riancho, J, Turon-Sans, J, Assialioui, A, Perez-Tur, J, Sevilla, T, Perez, JE, Garcia-Redondo, A. Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease. EUROPEAN JOURNAL OF NEUROLOGY. 2023; 30(4)DOI:10.1111/ene.15661. PMID:36484631. IF:4.500(Q1/2D).
01/04/2023 A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness
Segarra-Casas, A, Collet, R, Gonzalez-Quereda, L, Vesperinas, A, Caballero-Avila, M, Carbayo, A, Diaz-Manera, J, Rodriguez, MJ, Gallardo, E, Gallano, P, Olive, M. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness. NEUROMUSCULAR DISORDERS. 2023; 33(4)DOI:10.1016/j.nmd.2023.02.006. PMID:36893608. IF:2.700(Q2/4D).
14/03/2023 Effect of monovalency on anti-contactin-1 IgG4
Taieb G., Jentzer A., Vegezzi E., Lleixà C., Illa I., Querol L., Devaux J.J.. Effect of monovalency on anti-contactin-1 IgG4. Frontiers in Immunology. 2023; 14DOI:10.3389/fimmu.2023.1021513. PMID:36999029. IF:5.700(Q1/3D).
13/03/2023 Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort
de Bruyn, A, Montagnese, F, Holm-Yildiz, S, Poulsen, NS, Stojkovic, T, Behin, A, Palmio, J, Jokela, M, De Bleecker, JL, de Visser, M, van der Kooi, AJ, ten Dam, L, Gonzalez, CD, Maggi, L, Gallone, A, Kostera-Pruszczyk, A, Macias, A, Lusakowska, A, Nedkova, V, Olive, M, Alvarez-Velasco, R, Wanschitz, J, Paradas, C, Mavillard, F, Querin, G, Fernandez-Eulate, G, Quinlivan, R, Walter, MC, Depuydt, CE, Udd, B, Vissing, J, Schoser, B, Claeys, KG. Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort. BRAIN. 2023; 146(9)DOI:10.1093/brain/awad088. PMID:36913258. IF:11.900(Q1/1D).
09/03/2023 Contactin-1 links autoimmune neuropathy and membranous glomerulonephritis
Fehmi, J, Davies, AJ, Antonelou, M, Keddie, S, Pikkupeura, S, Querol, L, Delmont, E, Cortese, A, Franciotta, D, Persson, S, Barratt, J, Pepper, R, Farinha, F, Rahman, A, Canetti, D, Gilbertson, JA, Rendell, NB, Radunovic, A, Minton, T, Fuller, G, Murphy, SM, Carr, AS, Reilly, MR, Eftimov, F, Wieske, L, Teunissen, CE, Roberts, ISD, Ashman, N, Salama, AD, Rinaldi, S. Contactin-1 links autoimmune neuropathy and membranous glomerulonephritis. PLoS One. 2023; 18(3)DOI:10.1371/journal.pone.0281156. PMID:36893151. IF:2.900(Q1/3D).