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).

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).

Gómez-Andrés, D, Costa-Comellas, L, Díaz-Manera, J, Ounap, K, Alvarez-Molinero, M, Urcuyo, G, Savarese, M, Munell, F, Udd, B. Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies. EUROPEAN JOURNAL OF NEUROLOGY. 2025; 32(10)DOI:10.1111/ene.70348. PMID:41025552. IF:3.900(Q1/3D).

Iammarino, MA, Alonso-Perez, J, Stojkovic, T, Pegoraro, E, Lowes, L, Diaz-Manera, J. 282nd ENMC international workshop-standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands. NEUROMUSCULAR DISORDERS. 2025; 54DOI:10.1016/j.nmd.2025.106212. PMID:40997622. IF:2.800(Q2/5D).

Querol, L, Rinaldi, S, Borsi, A, Boggia, GM, de Courcy, J, Taylor, Y, Wright, J, Karmous, W, Noel, W, Gary, C, zu Hörste, GM. Real-World Multinational Survey of Chronic Inflammatory Demyelinating Polyneuropathy: Disease Characteristics and Therapeutic Landscape. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2025; 30(3)DOI:10.1111/jns.70047. PMID:40826893. IF:3.200(Q2/4D).

de Frutos, F, Herrador, L, Peiró-Aventin, B, Eiros, R, Freire, JL, Zorio, E, Carbayo, A, Llongueras-Espi, P, Garcia-Alvarez, A, Ripoll-Vera, T, Macias, R, Vilches, S, Ruiz-Bustillo, S, Arana-Achaga, X, Ordás, JG, Piqueras-Flores, J, Ruiz-Cueto, M, Casasnovas, C, Tirón, C, Rojas-Garcia, R, Sevilla, T, Rodriguez-Palomares, JF, González-López, E, Villacorta, E, Garcia-Pavia, P, González-Costello, J. Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain. REVISTA ESPANOLA DE CARDIOLOGIA. 2025; 78(9)DOI:10.1016/j.rec.2024.12.012. PMID:39827963. IF:4.900(Q1/2D).

Kishnani, PS, Boentert, M, Wenninger, S, Berger, KI, Msihid, J, O'Callaghan, L, Essadi-Addou, R, Gallego, V, Rawat, NS, Huynh-Ba, O, Diaz-Manera, J. Efficacy of Switching Therapy From Alglucosidase Alfa to Avalglucosidase Alfa on Respiratory Function in Participants With Late-Onset Pompe Disease: A Post Hoc Analysis From the COMET Trial. Jimd Reports. 2025; 66(5)DOI:10.1002/jmd2.70033. PMID:40799512. IF:(Q/D).

Kushlaf, H, Díaz-Manera, J, Bratkovic, D, Byrne, BJ, Claeys, KG, Clemens, PR, Dimachkie, MM, Kishnani, PS, Laforêt, P, Roberts, M, Schoser, B, Toscano, A, Castelli, J, Holdbrook, F, Das, SS, Goldman, M, Mozaffar, T. Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL. MUSCLE & NERVE. 2025; 72(2)DOI:10.1002/mus.28420. PMID:40342075. IF:3.100(Q2/4D).

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).

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).

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).

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).

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).

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).

Habib, AA, Claeys, KG, Bril, V, Hussain, Y, Gwathmey, K, Sahagian, G, Cortés-Vicente, E, Brauer, E, Gelinas, D, Sumbul, A, Jimenez, RH, Hristova, D, Masschaele, D, Mantegazza, R, Meisel, A, Attarian, S. ADAPT NXT: Fixed Cycles or Every-Other-Week IV Efgartigimod in Generalized Myasthenia Gravis. Annals of Clinical and Translational Neurology. 2025; 12(6)DOI:10.1002/acn3.70051. PMID:40223516. IF:3.900(Q1/3D).

Balla, A, Saraceno, F, Rullo, M, Morales-Conde, S, Soler, EMT, Di Saverio, S, Guerrieri, M, Lepiane, P, Di Lorenzo, N, Adamina, M, Alarcon, I, Arezzo, A, Rodriguez, JB, Boni, L, Biondo, S, Carrano, FM, Chand, M, Jenkins, JT, Davies, J, Rivilla, SD, Delrio, P, Elmore, U, Espin-Basany, E, Fichera, A, Lorente, BF, Francis, N, Ruiz, MG, Hahnloser, D, Licardie, E, Martinez, C, Ortenzi, M, Panis, Y, Idoate, CP, Paganini, AM, Pera, M, Perinotti, R, Popowich, DA, Rockall, T, Rosati, R, Sartori, A, Scoglio, D, Shalaby, M, Fernandez, VS, Smart, NJ, Spinelli, A, Sylla, P, Tanis, PJ, Hernandez, JV, Wexner, SD, Sileri, P, PICARR Collaborative Grp. Protective ileostomy creation after anterior resection of the rectum (PICARR): a decision-making exploring international survey. Updates in Surgery. 2025; 77(3)DOI:10.1007/s13304-025-02111-6. PMID:40121358. IF:2.200(Q2/4D).

López-Gutiérrez, F, Loricera, J, Molina-Collada, J, Gonáalez, JCN, Sánchez-Lucas, M, Moya, P, Labrador-Sánchez, E, Ferraz-Amaro, I, Blanco, R. SWITCHING FROM REFERENCE TOCILIZUMAB TO BIOSIMILAR IN GIANT CELL ARTERITIS: EFFECTIVENESS AND SAFETY. ANNALS OF THE RHEUMATIC DISEASES. 2025; 84DOI:10.1136/annrheumdis-2025-eular.B3604. PMID:. IF:20.600(Q1/1D).

Espino-Guarch, M, Huang, SSY, Vilches, C, Prat, E, El Nahas, R, Missous, G, Bodoy, S, Sathappan, A, Al-Aghbar, MA, Mayayo, C, Olivé, M, Busquets-Rius, S, Sebastián, D, Zorzano, A, Palacin, M, van Panhuys, N, Nunes, V. Ablation of LAT2 Transporter Causes Intramuscular Glutamine Accumulation and Inhibition of Fasting-Induced Proteolysis. Journal of Cachexia Sarcopenia and Muscle. 2025; 16(3)DOI:10.1002/jcsm.13847. PMID:40546137. IF:9.100(Q1/1D).

Gutierrez-Gutierrez, G, Gomez-Ballesteros, R, Sotoca, J, Ares, A, Villaverde, R, Reyes, V, Armangue, T, Salas, E, Diaz-Abos, P, Rebollo, P, Sarmiento, M, Escobar, I, Maurino, J, Querol, L. Assessing therapeutic decisions in generalized myasthenia gravis: Study protocol. PLoS One. 2025; 20(4)DOI:10.1371/journal.pone.0322168. PMID:40261907. IF:2.600(Q2/4D).

Valls, A, Ruiz-Roldán, C, Immanuel, J, Alonso-Martín, S, Gallardo, E, Fernández-Torrón, R, Bonilla, M, Lersundi, A, Hernández-Laín, A, Domínguez-González, C, Vílchez, JJ, Iruzubieta, P, de Munain, AL, Sáenz, A. The Role of Integrin ß1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy. Cells. 2025; 14(6)DOI:10.3390/cells14060446. PMID:40136695. IF:5.200(Q2/3D).