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18/04/2022
Clinical and genetic spectrum of a large cohort of patients with delta-sarcoglycan muscular dystrophy
Alonso-Perez, J, Gonzalez-Quereda, L, Bruno, C, Panicucci, C, Alavi, A, Nafissi, S, Nilipour, Y, Zanoteli, E, Isihi, LMD, Melegh, B, Hadzsiev, K, Muelas, N, Vilchez, JJ, Dourado, ME, Kadem, N, Kutluk, G, Umair, M, Younus, M, Pegorano, E, Bello, L, Crawford, TO, Suarez-Calvet, X, Topf, A, Guglieri, M, Marini-Bettolo, C, Gallano, P, Straub, V, Diaz-Manera, J. Clinical and genetic spectrum of a large cohort of patients with delta-sarcoglycan muscular dystrophy. BRAIN. 2022; 145(2)DOI:10.1093/brain/awab301. PMID:34515763. IF:14.500(Q1/1D).
01/03/2022
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
Garibaldi, M, Nicoletti, T, Bucci, E, Fionda, L, Leonardi, L, Morino, S, Tufano, L, Alfieri, G, Lauletta, A, Merlonghi, G, Perna, A, Rossi, S, Ricci, E, Perez, JA, Tartaglione, T, Petrucci, A, Pennisi, EM, Salvetti, M, Cutter, G, Diaz-Manera, J, Silvestri, G, Antonini, G. Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials. EUROPEAN JOURNAL OF NEUROLOGY. 2022; 29(3)DOI:10.1111/ene.15174. PMID:34753219. IF:5.100(Q1/3D).
01/03/2022
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 (vol 1, pg 3556, 2021)
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 (vol 1, pg 3556, 2021). JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2022; 27(1)DOI:10.1111/jns.12479. PMID:. IF:3.800(Q2/4D).
01/03/2022
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)
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, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021). NATURE GENETICS. 2022; 54(3)DOI:10.1038/s41588-022-01020-3. PMID:35102318. IF:30.800(Q1/1D).
01/02/2022
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome
Cortes-Vicente, E, Alvarez-Velasco, R, Pla-Junca, F, Rojas-Garcia, R, Paradas, C, Sevilla, T, Casasnovas, C, Gomez-Caravaca, MT, Pardo, J, Ramos-Fransi, A, Pelayo-Negro, AL, Gutierrez-Gutierrez, G, Turon-Sans, J, de Munain, AL, Guerrero-Sola, A, Jerico, I, Martin, MA, Mendoza, MD, Moris, G, Velez-Gomez, B, Garcia-Sobrino, T, Pascual-Goni, E, Reyes-Leiva, D, Illa, I, Gallardo, E. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome. Annals of Clinical and Translational Neurology. 2022; 9(2)DOI:10.1002/acn3.51492. PMID:35080153. IF:5.300(Q1/2D).
01/01/2022
Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy
Martín-Aguilar L, Lleixà C, Pascual-Goñi E, Caballero-Ávila M, Martínez-Martínez L, Díaz-Manera J, Rojas-García R, Cortés-Vicente E, Turon-Sans J, de Luna N, Suárez-Calvet X, Gallardo E, Rajabally Y, Scotton S, Jacobs BC, Baars A, Cortese A, Vegezzi E, Höftberger R, Zimprich F, Roesler C, Nobile-Orazio E, Liberatore G, Hiew FL, Martínez-Piñeiro A, Carvajal A, Piñar-Morales R, Usón-Martín M, Albertí O, López-Pérez MÁ, Márquez F, Pardo-Fernández J, Muñoz-Delgado L, Cabrera-Serrano M, Ortiz N, Bartolomé M, Duman Ö, Bril V, Segura-Chávez D, Pitarokoili K, Steen C, Illa I, Querol L. Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(1)DOI:10.1212/NXI.0000000000001098. PMID:34728497. IF:8.800(Q1/1D).