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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).