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01/08/2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Schiava, M, Parkhurst, Y, Henderson, M, Polvikoski, T, Valtcheva, MV, Nishino, I, Inoue, M, Nishimori, Y, Saito, Y, Stojkovic, T, Villar-Quiles, RN, Romero, NB, Evangelista, T, Malfatti, E, Souvannanorath, S, Pegoraro, E, Riguzzi, P, Monforte, M, Bortolani, S, Torchia, E, Sabatelli, M, Tasca, G, Straub, V, Marini-Bettolo, C, Guglieri, M, Cetin, H, Gelpi, E, Klotz, S, De Bleecker, JL, Alonso-Jimenez, A, Baets, J, De Ridder, W, De Jonghe, P, Claeys, KG, Thal, DR, Bevilacqua, JA, Luo, SS, Zhu, WH, Lin, J, Papadimas, G, Papadopoulos, C, Zamba-Papanicolaou, E, Xirou, S, Pal, E, Rodolico, C, Kostera-Pruszczyk, A, Kierdaszuk, B, Kaminska, A, Muelas, N, Vilchez, JJ, Domínguez-González, C, Hernandez-Lain, A, Alonso-Perez, J, Nedkova-Hristova, V, Aledo, C, Oldfors, A, Badrising, UA, Kushlaf, H, Lloyd, TE, Ikenaga, C, Alfano, LN, Quinn, CC, Walk, D, Vorgerd, M, Weihl, C, Olivé, M, Diaz-Manera, J, VCP Int Study Grp. Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy. Neurology-Genetics. 2025; 11(4)DOI:10.1212/NXG.0000000000200265. PMID:40678441. IF:3.700(Q1/3D).
01/07/2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Segarra-Casas, A, Domínguez-González, C, Natera-de Benito, D, Kapetanovic, S, Hernández-Laín, A, Estévez-Arias, B, Llansó, L, Ortez, C, Jou, C, Martí-Carrera, I, López-Márquez, A, Rodríguez, MJ, González-Mera, L, Nedkova, V, Fernández-Torrón, R, Rodríguez-Santiago, B, Jimenez-Mallebrera, C, Juntas-Morales, R, López-de Munain, A, Surrallés, J, Nascimento, A, Gallardo, E, Olivé, M, Gallano, P, González-Quereda, L. Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases. Annals of Clinical and Translational Neurology. 2025; 12(7)DOI:10.1002/acn3.70078. PMID:40413734. IF:3.900(Q1/3D).
19/06/2025
Caregiving burden among caregivers of people with myasthenia gravis
Dewilde, S, Tollenaar, NH, Boulanger, P, Archer, A, Pardo, R, Cortés-Vicente, E, Mantegazza, R, Vanoli, F, Lehnerer, S, Pawlitzki, M, Heinrich, M, De Ruyck, F, Phillips, G, Paci, S. Caregiving burden among caregivers of people with myasthenia gravis. Orphanet Journal of Rare Diseases. 2025; 20(1)DOI:10.1186/s13023-025-03842-w. PMID:40537818. IF:3.500(Q2/4D).
01/06/2025
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum
Alonso-Pérez, J, Barrachina-Esteve, O, Gonzaález-Quereda, L, Viguera-Martinez, ML, Lujaán-Torné, M, Guitart-Feliubadaló, M, Martínez, JM, Carbayo, A, Gallano, P, Díaz-Manera, J, Olivé, M, Rojas-Garcia, R. Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum. NEUROLOGIA. 2025; 40(5)DOI:10.1016/j.nrl.2023.03.002. PMID:40523712. IF:3.100(Q2/4D).
01/06/2025
Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI
Verdu-Diaz, J, Bolano-Díaz, C, Gonzalez-Chamorro, A, Fitzsimmons, S, Warman-Chardon, J, Kocak, GS, Mucida-Alvim, D, Smith, IC, Vissing, J, Poulsen, NS, Luo, SS, Domínguez-González, C, Bermejo-Guerrero, L, Gomez-Andres, D, Sotoca, J, Pichiecchio, A, Nicolosi, S, Monforte, M, Brogna, C, Mercuri, E, Bevilacqua, JA, Díaz-Jara, J, Pizarro-Galleguillos, B, Krkoska, P, Alonso-Pérez, J, Olivé, M, Niks, EH, Kan, HE, Lilleker, J, Roberts, M, Buchignani, B, Shin, J, Esselin, F, Le Bars, E, Childs, AM, Malfatti, E, Sarkozy, A, Perry, L, Sudhakar, S, Zanoteli, E, Di Pace, FT, Matthews, E, Attarian, S, Bendahan, D, Garibaldi, M, Fionda, L, Alonso-Jiménez, A, Carlier, R, Okhovat, AA, Nafissi, S, Nalini, A, Vengalil, S, Hollingsworth, K, Marini-Bettolo, C, Straub, V, Tasca, G, Bacardit, J, Díaz-Manera, J. Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI. Journal of Cachexia Sarcopenia and Muscle. 2025; 16(3)DOI:10.1002/jcsm.13815. PMID:40275674. IF:9.100(Q1/1D).
01/06/2025
278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The Netherlands
Sacconi, S, Vanoli, F, Stascheit, F, Cortés-Vicente, E, Mantegazza, R, Meisel, A. 278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The Netherlands. NEUROMUSCULAR DISORDERS. 2025; 51DOI:10.1016/j.nmd.2025.105368. PMID:40388880. IF:2.800(Q2/5D).