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01/10/2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Schiava, M, Ikenaga, C, Villar-Quiles, RN, Caballero-Avila, M, Topf, A, Nishino, I, Kimonis, V, Udd, B, Schoser, B, Zanoteli, E, Souza, PVS, Tasca, G, Lloyd, T, Lopez-de Munain, A, Paradas, C, Pegoraro, E, Nadaj-Pakleza, A, De Bleecker, J, Badrising, U, Alonso-Jimenez, A, Kostera-Pruszczyk, A, Miralles, F, Shin, JH, Bevilacqua, JA, Olive, M, Vorgerd, M, Kley, R, Brady, S, Williams, T, Dominguez-Gonzalez, C, Papadimas, GK, Warman, J, Claeys, KG, de Visser, M, Muelas, N, LaForet, P, Malfatti, E, Alfano, LN, Nair, SS, Manousakis, G, Kushlaf, HA, Harms, MB, Nance, C, Ramos-Fransi, A, Rodolico, C, Hewamadduma, C, Cetin, H, Garcia-Garcia, J, Pal, E, Farrugia, ME, Lamont, PJ, Quinn, C, Nedkova-Hristova, V, Peric, S, Luo, SS, Oldfors, A, Taylor, K, Ralston, S, Stojkovic, T, Weihl, C, Diaz-Manera, J. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2022; 93(10)DOI:10.1136/jnnp-2022-328921. PMID:35896379. IF:11.000(Q1/1D).
01/10/2022
Autoimmune nodopathies, an emerging diagnostic category
Martin-Aguilar, L, Lleixa, C, Pascual-Goni, E. Autoimmune nodopathies, an emerging diagnostic category. CURRENT OPINION IN NEUROLOGY. 2022; 35(5)DOI:10.1097/WCO.0000000000001107. PMID:35989582. IF:4.800(Q1/3D).
20/09/2022
An International Perspective on Preceding Infections in Guillain-Barre Syndrome The IGOS-1000 Cohort
Leonhard, SE, van der Eijk, AA, Andersen, H, Antonini, G, Arends, S, Attarian, S, Barroso, FA, Bateman, KJ, Batstra, MR, Benedetti, L, van den Berg, B, Van den Bergh, P, Burmann, J, Busby, M, Casasnovas, C, Cornblath, DR, Davidson, A, Doets, AY, van Doorn, PA, de la Cour, CD, Feasby, TE, Fehmi, J, Garcia-Sobrino, T, Goldstein, JM, Gorson, KC, Granit, V, Hadden, RDM, Harbo, T, Hartung, HP, Hasan, I, Holbech, JV, Holt, JKL, Jahan, I, Islam, Z, Karafiath, S, Katzberg, HD, Kleyweg, RP, Kolb, N, Kuitwaard, K, Kuwahara, M, Kusunoki, S, Luijten, LWG, Kuwabara, S, Pan, EL, Lehmann, HC, Maas, M, Martin-Aguilar, L, Al Miller, J, Mohammad, QD, Monges, S, Nedkova-Hristova, V, Nobile-Orazio, E, Pardo, J, Pereon, Y, Querol, L, Reisin, R, Van Rijs, W, Rinaldi, S, Roberts, RC, Roodbol, J, Shahrizaila, N, Sindrup, SH, Stein, B, Cheng-Yin, T, Tankisi, H, Tio-Gillen, AP, Tous, MJS, Verboon, C, Vermeij, FH, Visser, LH, Huizinga, R, Willison, HJ, Jacobs, BC. An International Perspective on Preceding Infections in Guillain-Barre Syndrome The IGOS-1000 Cohort. NEUROLOGY. 2022; 99(12)DOI:10.1212/WNL.0000000000200885. PMID:35981895. IF:9.900(Q1/1D).
01/09/2022
Impact of Neuromyelitis Optica Spectrum Disorder on Quality of Life from the Patients' Perspective: An Observational Cross-Sectional Study
Meca-Lallana, JE, Gomez-Ballesteros, R, 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, Maurino, J. Impact of Neuromyelitis Optica Spectrum Disorder on Quality of Life from the Patients' Perspective: An Observational Cross-Sectional Study. Neurology and Therapy. 2022; 11(3)DOI:10.1007/s40120-022-00356-6. PMID:35524037. IF:3.700(Q2/4D).
01/09/2022
IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy
Jentzer, A, Attal, A, Roue, C, Raymond, J, Lleixa, C, Illa, I, Querol, L, Taieb, G, Devaux, J. IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(5)DOI:10.1212/NXI.0000000000200014. PMID:35948442. IF:8.800(Q1/1D).
01/09/2022
Gadolinium-enhanced brain lesions in multiple sclerosis relapse
Martin-Aguilar, L, Presas-Rodriguez, S, Rovira, A, Capellades, J, Massuet-Vilamajo, A, Ramio-Torrenta, L, Tintore, M, Brieva-Ruiz, L, Moral, E, Cano-Orgaz, A, Blanco, Y, Batlle-Nadal, J, Carmona, O, Gea, M, Hervas-Garcia, JV, Ramo-Tello, C. Gadolinium-enhanced brain lesions in multiple sclerosis relapse. NEUROLOGIA. 2022; 37(7)DOI:10.1016/j.nrl.2021.10.005. PMID:36064284. IF:3.900(Q2/4D).
16/08/2022
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates
Silva, AMS, Rodrigo, P, Moreno, CAM, Mendonca, RD, Estephan, ED, Camelo, CG, Campos, ED, Dias, AT, Nascimento, AM, Kulikowski, LD, Oliveira, ASB, Reed, UC, Goldfarb, LG, Olive, M, Zanoteli, E. The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY. 2022; 81(9)DOI:10.1093/jnen/nlac063. PMID:35898174. IF:3.200(Q2/5D).
01/07/2022
Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy
Statland, JM, Campbell, C, Desai, U, Karam, C, Diaz-Manera, J, Guptill, JT, Korngut, L, Genge, A, Tawil, RN, Elman, L, Joyce, NC, Wagner, KR, Manousakis, G, Amato, AA, Butterfield, RJ, Shieh, PB, Wicklund, M, Gamez, J, Bodkin, C, Pestronk, A, Weihl, CC, Vilchez-Padilla, JJ, Johnson, NE, Mathews, KD, Miller, B, Leneus, A, Fowler, M, van de Rijn, M, Attie, KM. Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. MUSCLE & NERVE. 2022; 66(1)DOI:10.1002/mus.27558. PMID:35428982. IF:3.400(Q2/5D).