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01/11/2025 Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy
Llansó, L, Reyes-Leiva, D, Segarra-Casas, A, Xucla-Ferrarons, T, Gallardo, E, Blanco, R, Gallano, P, Olive, M, Gonzalez-Quereda, L. Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy. Journal Of Neuromuscular Diseases. 2025; 12(6)DOI:10.1177/22143602251350849. PMID:40528517. IF:3.400(Q2/3D).
01/11/2025 Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project
Puig-Ram, C, Segovia, S, Garcia-Uzquiano, R, Garzón, NCÑ, Aragon-Gawinska, K, Romero, MG, Expósito-Escudero, JM, Carrera-García, L, López-Lobato, M, Paradas, C, Mera, LG, Molinero, MA, Andrés, DG, Toro, E, Ramos, JAF, Grimalt, MA, de Laguna, LTB, Barrios, DG, Tizzano, EF, Cattinari, MG, Medina, J, Medina, RC, Munell, F, Sotoca, J, Martínez-Salcedo, E, Escribano, AM, Panadés, MP, Fernández-García, MA, Pitarch-Castellano, I, Vázquez-Costa, JF, Benito, DND, Nascimento, A. Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project. Journal Of Neuromuscular Diseases. 2025; 12(6)DOI:10.1177/22143602251361190. PMID:40726133. IF:3.400(Q2/3D).
01/10/2025 Autoimmune nodopathies: emerging insights and clinical implications
Collet-Vidiella, R, De Lorenzo, A, Querol, L. Autoimmune nodopathies: emerging insights and clinical implications. CURRENT OPINION IN NEUROLOGY. 2025; 38(5)DOI:10.1097/WCO.0000000000001399. PMID:40916889. IF:4.400(Q1/2D).
01/10/2025 From fibro/adipogenic progenitors to adipocytes: Understanding adipogenesis in muscle degeneration for disease modulation
Villalobos, E, Mehra, P, Diaz-Manera, J. From fibro/adipogenic progenitors to adipocytes: Understanding adipogenesis in muscle degeneration for disease modulation. JOURNAL OF PHYSIOLOGY-LONDON. 2025; 603(19)DOI:10.1113/JP288924. PMID:40846464. IF:4.400(Q1/1D).
01/10/2025 Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Cortese, A, Dohrn, MF, Curro, R, Negri, S, Lassuthova, P, Pisciotta, C, Tozza, S, Al-Ajmi, A, Feng, CY, Tomaselli, PJ, Fernandez-Eulate, G, Haddad, S, Laurà, M, Rossor, AM, Vegezzi, E, Facchini, S, Sleigh, JN, Rebelo, A, Beijer, D, Raposo, J, Saporta, M, Lauerova, B, Pernice, HF, Achenbach, P, Schöne, U, Alon, T, Deschauer, M, Cordts, I, Obermaier, CD, Winter, N, Creigh, PD, Sowden, JE, Rehbein, T, Magri, S, Bertini, A, Saveri, P, Ripellino, P, Huang, JY, Nadaj-Pakleza, A, Ross, A, Holt, JKL, Brennan, KM, Sukenik-Halevy, R, Bizaoui, V, Parman, Y, Battaloglu, E, Cakar, A, Alrohaif, H, Hammans, S, Kumar, KR, Kennerson, ML, Kayserili, H, Amado, DA, Hahn, K, Valentino, P, Cavalcanti, F, Gaetano, C, Taroni, F, Braathen, GJ, Houlden, H, Stojkovic, T, Peric, S, Bolino, A, Previtali, SC, Lee, YC, Basak, AN, Hamed, SA, Rojas-Garcia, R, Claeys, KG, Marques, W, Sevilla, T, Schlotter-Weigel, B, Manganelli, F, Zhang, RX, Herrmann, DN, Scherer, SS, Seeman, P, Pareyson, D, Reilly, MM, Shy, ME, Züchner, S. Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD. BRAIN. 2025; 148(10)DOI:10.1093/brain/awaf021. PMID:39938083. IF:11.700(Q1/1D).
01/10/2025 Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Llansó, L, Stevanovski, I, Morís, G, Collet-Vidiella, R, Segarra-Casas, A, González-Quereda, L, Rodríguez-Santiago, B, Gallano, P, Alvarez, R, Vesperinas, A, Blanco, R, San-Millán, B, Navarro, C, Illa, I, Ravenscroft, G, Deveson, IW, Gallardo, E, Olivé, M. Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features. Annals of Clinical and Translational Neurology. 2025; 12(10)DOI:10.1002/acn3.70146. PMID:40693562. IF:3.900(Q1/3D).