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01/07/2023
Impact of Cerebral Microbleeds in Stroke Patients with Atrial Fibrillation
Soo, Y, Zietz, A, Yiu, B, Mok, VCT, Polymeris, AA, Seiffge, D, Ambler, G, Wilson, D, Leung, TWH, Tsang, SF, Chu, W, Abrigo, J, Cheng, C, Lee, KJ, Lim, JS, Shiozawa, M, Koga, M, Chabriat, H, Hennerici, M, Wong, YK, Mak, H, Collet, R, Inamura, S, Yoshifuji, K, Arsava, EM, Horstmann, S, Purrucker, J, Lam, BYK, Wong, A, Kim, YD, Song, TJ, Lemmens, R, Eppinger, S, Gattringer, T, Uysal, E, Demirelli, DS, Bornstein, NM, Ben Assayag, E, Hallevi, H, Molad, J, Nishihara, M, Tanaka, J, Coutts, SB, Kappelle, LJ, Salman, RA, Jager, R, Lip, GYH, Goeldlin, MB, Panos, LD, Mas, JL, Legrand, L, Karayiannis, C, Phan, T, Bellut, M, Chappell, F, Makin, S, Hayden, D, Williams, D, van Dam-Nolen, DHK, Nederkoorn, PJ, Barbato, C, Browning, S, Wiegertjes, K, Tuladhar, AM, Mendyk, AM, Kohler, S, van Oostenburgge, R, Zhou, Y, Xu, C, Hilal, S, Gyanwali, B, Chen, C, Lou, M, Staals, J, Bordet, R, Kandiah, N, de Leeuw, FE, Simister, R, Hendrikse, J, Wardlaw, J, Kelly, P, Fluri, F, Srikanth, V, Calvet, D, Jung, S, Kwa, VIH, Smith, EE, Hara, H, Yakushiji, Y, Orken, DN, Fazekas, F, Thijs, V, Heo, JH, Veltkamp, R, Ay, H, Imaizumi, T, Lau, KK, Jouvent, E, Toyoda, K, Yoshimura, S, Bae, HJ, Marti-Fabregas, J, Prats-Sanchez, L, Lyrer, P, Best, J, Werring, D, Engelter, ST, Peters, N. Impact of Cerebral Microbleeds in Stroke Patients with Atrial Fibrillation. ANNALS OF NEUROLOGY. 2023; 94(1)DOI:10.1002/ana.26642. PMID:36928609. IF:8.100(Q1/1D).
01/01/2023
Intravenous Thrombolysis in Patients With Ischemic Stroke and Recent Ingestion of Direct Oral Anticoagulants
Meinel T.R., Wilson D., Gensicke H., Scheitz J.F., Ringleb P., Goganau I., Kaesmacher J., Bae H.-J., Kim D.Y., Kermer P., Suzuki K., Kimura K., Macha K., Koga M., Wada S., Altersberger V., Salerno A., Palanikumar L., Zini A., Forlivesi S., Kellert L., Wischmann J., Kristoffersen E.S., Beharry J., Barber P.A., Hong J.B., Cereda C., Schlemm E., Yakushiji Y., Poli S., Leker R., Romoli M., Zedde M., Curtze S., Ikenberg B., Uphaus T., Giannandrea D., Portela P.C., Veltkamp R., Ranta A., Arnold M., Fischer U., Cha J.-K., Wu T.Y., Purrucker J.C., Seiffge D.J., Kägi G., Engelter S., Nolte C.H., Kallmünzer B., Michel P., Kleinig T.J., Fink J., Rønning O.M., Campbell B., Nederkoorn P.J., Thomalla G., Kunieda T., Poli K., Béjot Y., Soo Y., Garcia-Esperon C., Ntaios G., Cordonnier C., Marto J.P., Bigliardi G., Lun F., Choi P.M.C., Steiner T., Ustrell X., Werring D., Wegener S., Pezzini A., Du H., Martí-Fàbregas J., Cánovas-Vergé D., Strbian D., Padjen V., Yaghi S., Stretz C., Kim J.-T.. Intravenous Thrombolysis in Patients With Ischemic Stroke and Recent Ingestion of Direct Oral Anticoagulants. JAMA Neurology. 2023; 80(3)DOI:10.1001/jamaneurol.2022.4782. PMID:36807495. IF:20.900(Q1/1D).
01/06/2022
Identification of serum microRNAs as potential biomarkers in Pompe disease (vol 6, pg 1214, 2019)
Carrasco-Rozas, A, Fernandez-Simon, E, Lleixa, MC, Belmonte, I, Pedrosa-Hernandez, I, Montiel-Morillo, E, Nunez-Peralta, C, Rossello, JL, Segovia, S, De Luna, N, Suarez-Calvet, X, Illa, I, Diaz-Manera, J, Gallardo, E, Barba-Romero, MA, Barcena, J, Carzorla, MR, Creus, C, Coll-Canti, J, Diaz, M, Dominguez, C, Torron, RF, Antelo, MJG, Grau, JM, Caravaca, MTG, Hernandez, JCL, de Munain, AL, Martinez-Garcia, FA, Morgado, Y, Moreno, A, Moris, G, Munoz-Blanco, MA, Nascimento, A, Paradas, C, Pozo, JLP, Querol, L, Robledo-Strauss, A, Garcia, RR, Rojas-Marcos, I, Salazar, JA, Uson, M. Identification of serum microRNAs as potential biomarkers in Pompe disease (vol 6, pg 1214, 2019). Annals of Clinical and Translational Neurology. 2022; 9(6)DOI:10.1002/acn3.51600. PMID:31353854. IF:5.300(Q1/2D).
01/10/2021
Systematic literature review of burden of illness in chronic inflammatory demyelinating polyneuropathy (CIDP)
Querol, L, Crabtree, M, Herepath, M, Priedane, E, Viejo, IV, Agush, S, Sommerer, P. Systematic literature review of burden of illness in chronic inflammatory demyelinating polyneuropathy (CIDP). JOURNAL OF NEUROLOGY. 2021; 268(10)DOI:10.1007/s00415-020-09998-8. PMID:32583051. IF:6.682(Q1/2D).
01/07/2022
Motor neuron involvement expands the neuropathological phenotype of late-onset ataxia in RFC1 mutation (CANVAS)
Reyes-Leiva, D, Aldecoa, I, Gelpi, E, Rojas-Garcia, R. Motor neuron involvement expands the neuropathological phenotype of late-onset ataxia in RFC1 mutation (CANVAS). BRAIN PATHOLOGY. 2022; 32(4)DOI:10.1111/bpa.13051. PMID:35001451. IF:6.400(Q1/2D).
01/07/2022
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
Dominguez-Gonzalez, C, Fernandez-Torron, R, Moore, U, de la Hoz, CPDF, Velez-Gomez, B, Cabezas, JA, Alonso-Perez, J, Gonzalez-Mera, L, Olive, M, Garcia-Garcia, J, Moris, G, Hernandez, JCL, Muelas, N, Servian-Morilla, E, Martin, MA, Diaz-Manera, J, Paradas, C. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis. JOURNAL OF NEUROLOGY. 2022; 269(7)DOI:10.1007/s00415-021-10957-0. PMID:35286480. IF:6.000(Q1/2D).
01/06/2022
Frequency and clinical correlates of anti-nerve antibodies in a large population of CIDP patients included in the Italian database
Liberatore, G, De Lorenzo, A, Giannotta, C, Manganelli, F, Filosto, M, Cosentino, G, Cocito, D, Briani, C, Cortese, A, Fazio, R, Lauria, G, Clerici, AM, Rosso, T, Marfia, GA, Antonini, G, Cavaletti, G, Carpo, M, Doneddu, PE, Spina, E, Piccinelli, SC, Peci, E, Querol, L, Nobile-Orazio, E. Frequency and clinical correlates of anti-nerve antibodies in a large population of CIDP patients included in the Italian database. NEUROLOGICAL SCIENCES. 2022; 43(6)DOI:10.1007/s10072-021-05811-0. PMID:35048233. IF:3.300(Q2/5D).
01/05/2022
Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands
Alonso-Perez, J, Hernandez, JCD, Perez-Perez, H, Mendoza-Grimon, MD, Gutierrez-Martinez, AJ, Hadjigeorgiou, I, Monton-Alvarez, F, Gonzalez-Quereda, L, Alonso-Jimenez, A, Suarez-Calvet, X, Diaz-Manera, J. Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands. EUROPEAN JOURNAL OF NEUROLOGY. 2022; 29(5)DOI:10.1111/ene.15252. PMID:35112761. IF:5.100(Q1/3D).
01/05/2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
Moore, U, Fernandez-Torron, R, Jacobs, M, Gordish-Dressman, H, Diaz-Manera, J, James, MK, Mayhew, AG, Harris, E, Guglieri, M, Rufibach, LE, Feng, J, Blamire, AM, Carlier, PG, Spuler, S, Day, JW, Jones, KJ, Bharucha-Goebel, DX, Salort-Campana, E, Pestronk, A, Walter, MC, Paradas, C, Stojkovic, T, Mori-Yoshimura, M, Bravver, E, Pegoraro, E, Lowes, LP, Mendell, JR, Bushby, K, Bourke, J, Straub, V, Jain COS Consortium. Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study. MUSCLE & NERVE. 2022; 65(5)DOI:10.1002/mus.27524. PMID:35179231. IF:3.400(Q2/5D).
01/05/2022
High prevalence of paraspinal muscle involvement in adults with McArdle disease
Alvarez-Velasco, R, Nunez-Peralta, CA, Alonso-Perez, J, Gallardo, E, Collet-Vidiella, R, Reyes-Leiva, D, Pascual-Goni, E, Martin-Aguilar, L, Caballero-Avila, M, Carbayo-Viejo, A, Llauger-Rosello, J, Diaz-Manera, J, Olive, M. High prevalence of paraspinal muscle involvement in adults with McArdle disease. MUSCLE & NERVE. 2022; 65(5)DOI:10.1002/mus.27523. PMID:35174518. IF:3.400(Q2/5D).
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).
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).