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13/12/2022 Mutation update for the ACTN2 gene
Ranta-aho, J, Olive, M, Vandroux, M, Roticiani, G, Dominguez, C, Johari, M, Torella, A, Bohm, J, Turon, J, Nigro, V, Hackman, P, Laporte, J, Udd, B, Savarese, M. Mutation update for the ACTN2 gene. HUMAN MUTATION. 2022; 43(12)DOI:10.1002/humu.24470. PMID:36116040. IF:3.900(Q2/3D).
01/12/2022 Water T2 could predict functional decline in patients with dysferlinopathy
Moore, U, Araujo, ECD, Reyngoudt, H, Gordish-Dressman, H, Smith, FE, Wilson, I, James, M, Mayhew, A, Rufibach, L, 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, Mendell, JR, Bushby, K, Blamire, AM, Straub, V, Carlier, PG, Diaz-Manera, J. Water T2 could predict functional decline in patients with dysferlinopathy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(6)DOI:10.1002/jcsm.13063. PMID:36058852. IF:8.900(Q1/1D).
01/11/2022 Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, J, Marti, P, Liquori, A, Muelas, N, Pitarch, I, Martinez-Dolz, L, Rodriguez, B, Gonzalez-Quereda, L, Damia, M, Aller, E, Selva-Gimenez, M, Vilchez, R, Diaz-Manera, J, Alonso-Perez, J, Barcena, JE, Jauregui, A, Gamez, J, Aladren, JA, Fernandez, A, Montolio, M, Azorin, I, Hervas, D, Casasus, A, Nieto, M, Gallano, P, Sevilla, T, Vilchez, JJ. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. ANNALS OF NEUROLOGY. 2022; 92(5)DOI:10.1002/ana.26461. PMID:35897138. IF:11.200(Q1/1D).
11/10/2022 Muscle MRI in McArdle Disease A European Multicenter Observational Study
Lokken, N, Revsbech, KL, Jacobsen, LN, Martinuzzi, A, Martin, MA, Diaz-Manera, J, Dominguez-Gonzalez, C, Brondani, G, Musumeci, O, Granata, F, Stefan, C, Merino-Sanchez, C, Peralta, CN, Khawajazada, T, Alonso-Perez, J, Toscano, A, Vissing, J. Muscle MRI in McArdle Disease A European Multicenter Observational Study. NEUROLOGY. 2022; 99(15)DOI:10.1212/WNL.0000000000200914. PMID:35853747. IF:9.900(Q1/1D).
01/10/2022 Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Schiava, M, Ikenaga, C, Villar-Quiles, RN, Caballero-Avila, M, Topf, A, Nishino, I, Kimonis, V, Udd, B, Schoser, B, Zanoteli, E, Souza, PVS, Tasca, G, Lloyd, T, Lopez-de Munain, A, Paradas, C, Pegoraro, E, Nadaj-Pakleza, A, De Bleecker, J, Badrising, U, Alonso-Jimenez, A, Kostera-Pruszczyk, A, Miralles, F, Shin, JH, Bevilacqua, JA, Olive, M, Vorgerd, M, Kley, R, Brady, S, Williams, T, Dominguez-Gonzalez, C, Papadimas, GK, Warman, J, Claeys, KG, de Visser, M, Muelas, N, LaForet, P, Malfatti, E, Alfano, LN, Nair, SS, Manousakis, G, Kushlaf, HA, Harms, MB, Nance, C, Ramos-Fransi, A, Rodolico, C, Hewamadduma, C, Cetin, H, Garcia-Garcia, J, Pal, E, Farrugia, ME, Lamont, PJ, Quinn, C, Nedkova-Hristova, V, Peric, S, Luo, SS, Oldfors, A, Taylor, K, Ralston, S, Stojkovic, T, Weihl, C, Diaz-Manera, J. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2022; 93(10)DOI:10.1136/jnnp-2022-328921. PMID:35896379. IF:11.000(Q1/1D).
01/10/2022 Autoimmune nodopathies, an emerging diagnostic category
Martin-Aguilar, L, Lleixa, C, Pascual-Goni, E. Autoimmune nodopathies, an emerging diagnostic category. CURRENT OPINION IN NEUROLOGY. 2022; 35(5)DOI:10.1097/WCO.0000000000001107. PMID:35989582. IF:4.800(Q1/3D).