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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).