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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).
01/10/2025
Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies
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).
01/09/2025
282nd ENMC international workshop-standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands
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).
01/09/2025
Real-World Multinational Survey of Chronic Inflammatory Demyelinating Polyneuropathy: Disease Characteristics and Therapeutic Landscape
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).
01/09/2025
Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain
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).
12/08/2025
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
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).
01/08/2025
Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL
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).