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01/12/2021 Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
van Rheenen, W, van der Spek, RAA, Bakker, MK, van Vugt, JJFA, Hop, PJ, Zwamborn, RAJ, de Klein, N, Westra, HJ, Bakker, OB, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, AM, Gawor, K, Westeneng, HJ, Tazelaar, GHP, van Eijk, KR, Kooyman, M, Byrne, RP, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, BN, Gromicho, M, Chandran, S, Pal, S, Morrison, KE, Shaw, PJ, Hardy, J, Orrell, RW, Sendtner, M, Meyer, T, Basak, N, van der Kooi, AJ, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, RH, Bell, S, Vourc'h, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Pardina, JMS, Assialioui, A, Rojas-Garcia, R, Dion, PA, Ross, JP, Ludolph, AC, Weishaupt, JH, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, CAM, Saker-Delye, S, Wood, NW, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, DC, Olsen, CM, Uitterlinden, AG, Hofman, A, Rietschel, M, Cichon, S, Nothen, MM, Amouyel, P, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Cotelli, MS, Rinaldi, F, Chiveri, L, Guaita, MC, Perrone, P, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, ML, Bono, G, Manera, U, Vasta, R, Bombaci, A, Casale, F, Fuda, G, Salamone, P, Iazzolino, B, Peotta, L, Cugnasco, P, De Marco, G, Torrieri, MC, Palumbo, F, Gallone, S, Barberis, M, Sbaiz, L, Gentile, S, Mauro, A, De Marchi, F, D'Alfonso, S, Bertolotto, A, Gionco, M, Leotta, D, Odddenino, E, Imperiale, D, Cavallo, R, Pignatta, P, De Mattei, M, Geda, C, Papurello, DM, Gusmaroli, G, Comi, C, Labate, C, Ruiz, L, Ferrandi, D, Rota, E, Aguggia, M, Di Vito, N, Meineri, P, Ghiglione, P, Launaro, N, Dotta, M, Di Sapio, A, Giardini, G, Tiloca, C, Peverelli, S, Taroni, F, Pensato, V, Castellotti, B, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Corrado, L, Mazzini, L, Raggi, F, Simoncini, C, Lo Gerfo, A, Inghilleri, M, Ferlini, A, Simone, IL, Passarella, B, Guerra, V, Zoccolella, S, Nozzoli, C, Mundi, C, Leone, M, Zarrelli, M, Tamma, F, Valluzzi, F, Calabrese, G, Boero, G, Rini, A, Traynor, BJ, Singleton, AB, Neto, MM, Cauchi, RJ, Ophoff, RA, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, VM, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, OW, Steinbach, R, Hubner, CA, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, IP, Kiernan, MC, Benyamin, B, Henderson, RD, Furlong, S, Mathers, S, McCombe, PA, Needham, M, Ngo, ST, Nicholson, GA, Pamphlett, R, Rowe, DB, Steyn, FJ, Williams, KL, Mather, KA, Sachdev, PS, Henders, AK, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, GA, Silani, V, Curtis, CJ, Breen, G, Glass, JD, Brown, RH, Landers, JE, Shaw, CE, Andersen, PM, Groen, EJN, van Es, MA, Pasterkamp, RJ, Fan, DS, Garton, FC, McRae, AF, Smith, GD, Gaunt, TR, Eberle, MA, Mill, J, McLaughlin, RL, Hardiman, O, Kenna, KP, Wray, NR, Tsai, EL, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, LH, Veldink, JH. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. NATURE GENETICS. 2021; 53(12)DOI:10.1038/s41588-021-00973-1. PMID:34873335. IF:41.376(Q1/1D).
01/12/2021 Optic Nerve Demyelination in IgG4 Anti-Neurofascin 155 Antibody-Positive Combined Central and Peripheral Demyelination Syndrome
Verghese, A, Krishnan, D, Chia, YK, Querol, L, Hiew, FL. Optic Nerve Demyelination in IgG4 Anti-Neurofascin 155 Antibody-Positive Combined Central and Peripheral Demyelination Syndrome. Journal Of Central Nervous System Disease. 2021; 13DOI:10.1177/11795735211039913. PMID:34899003. IF:(Q/D).
01/12/2021 Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
Diaz-Manera, J, Kishnani, PS, Kushlaf, H, Ladha, S, Mozaffar, T, Straub, V, Toscano, A, Van der Ploeg, AT, Berger, KI, Clemens, PR, Chien, YH, Day, JW, Illarioshkin, S, Roberts, M, Attarian, S, Borges, JL, Bouhour, F, Choi, YC, Erdem-Ozdamar, S, Goker-Alpan, O, Kostera-Pruszczyk, A, Haack, KA, Hug, C, Huynh-Ba, O, Johnson, J, Thibault, N, Zhou, TY, Dimachkie, MM, Schoser, B. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. LANCET NEUROLOGY. 2021; 20(12)DOI:10.1016/S1474-4422(21)00241-6. PMID:34800399. IF:59.935(Q1/1D).
01/11/2021 Autoantibody screening in Guillain-Barre syndrome
Lleixa, C, Martin-Aguilar, L, Pascual-Goni, E, Franco, T, Caballero, M, De Luna, N, Gallardo, E, Suarez-Calvet, X, Martinez-Martinez, L, Diaz-Manera, J, Rojas-Garcia, R, Cortes-Vicente, E, Turon, J, Casasnovas, C, Homedes, C, Gutierrez-Gutierrez, G, Jimeno-Montero, MC, Berciano, J, Sedano-Tous, MJ, Garcia-Sobrino, T, Pardo-Fernandez, J, Marquez-Infante, C, Rojas-Marcos, I, Jerico-Pascual, I, Martinez-Hernandez, E, de la Tassa, GM, Dominguez-Gonzalez, C, Juarez, C, Illa, I, Querol, L. Autoantibody screening in Guillain-Barre syndrome. Journal of Neuroinflammation. 2021; 18(1)DOI:10.1186/s12974-021-02301-0. PMID:34719386. IF:9.589(Q1/1D).
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).