Search
17/11/2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe
Fernández-Eulate, G, Gitiaux, C, Thiele, S, Jungbluth, H, Potulska-Chromik, A, Marini-Bettolo, C, Davion, JB, Morís, G, Gallardo, E, Olivé, M, de la Hoz, CPD, Audic, F, Isapof, A, Walter, MC, Angelini, C, Bertini, E, Schara-Schmidt, U, Claeys, KG, Dohrn, MF, Dembele, M, Fer, F, Brochier, G, Evangelista, T, Kostera-Pruszczyk, A, Attarian, S, Straub, V, Domínguez-González, C, Vissing, J, Richard, P, Metay, C, Khraiche, D, Wahbi, K, Stojkovic, T. Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe. BRAIN. 2025; DOI:10.1093/brain/awaf223. PMID:40493734. IF:11.700(Q1/1D).
08/11/2025
Measuring the effect of rozanolixizumab using the Myasthenia Gravis Impairment Index: analyses from the randomized phase 3 MycarinG study
Barnett-Tapia, C, Vicente, EC, Pascuzzi, RM, Utsugisawa, K, Bloemers, J, Grimson, F, Tarancon, T, Bril, V. Measuring the effect of rozanolixizumab using the Myasthenia Gravis Impairment Index: analyses from the randomized phase 3 MycarinG study. JOURNAL OF NEUROLOGY. 2025; 272(12)DOI:10.1007/s00415-025-13480-8. PMID:41205003. IF:4.600(Q1/2D).
18/06/2025
Guía de recomendaciones para el diagnóstico y el tratamiento neurorrehabilitador de los estados secuelares pospoliomielíticos.
Povedano Pandés M, Rojas García R, Querol Gutiérrez L, Rodríguez de Rivera FJ, Colomer Font C, Noé Sebastián E, Navarro Pérez MD, Juárez Belaunde A, Ferri Campos J, Guijarro Castro TC. Guía de recomendaciones para el diagnóstico y el tratamiento neurorrehabilitador de los estados secuelares pospoliomielíticos.. Revista Espanola de Salud Publica. 2025; 99DOI:. PMID:40530649. IF:(Q/D).
29/01/2025
Inter-Laboratory Validation of Nodal/Paranodal Antibody Testing
Lleixà, C, Titulaer, M, Rohrbacher, S, Mgbachi, V, Halstead, S, Fehmi, J, Pascual-Goñi, E, Zhu, L, Appeltshauser, L, Franken, S, Paunovic, M, Waters, P, Willison, H, Sommer, C, Querol, L, Huizinga, R, Doppler, K, Rinaldi, S. Inter-Laboratory Validation of Nodal/Paranodal Antibody Testing. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2025; 30(1)DOI:10.1111/jns.70000. PMID:39887819. IF:3.200(Q2/4D).
07/01/2025
Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease
Schoser, B, Attarian, S, Graham, R, Holdbrook, F, Goldman, M, Díaz-Manera, J. Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease. JOURNAL OF NEUROLOGY. 2025; 272(1)DOI:10.1007/s00415-024-12843-x. PMID:39775064. IF:4.600(Q1/2D).
01/07/2025
Association of Plasma Phosphorylated Tau 217 With Clinical Deterioration Across Alzheimer Disease Stages.
Selma-Gonzalez J, Rubio-Guerra S, García-Castro J, Vera-Campuzano E, Sala I, Sánchez-Saudinós MB, Zhu N, Arranz J, Arriola-Infante JE, Rodríguez-Baz Í, Maure-Blesa L, Dols-Icardo O, Videla L, Valldeneu S, Barroeta I, Santos-Santos M, Carmona-Iragui M, Vaqué-Alcázar L, Alvarez-Sanchez E, Lorente O, Carreras M, Belbin O, Arslan B, Ashton NJ, Zetterberg H, Blennow K, Montoliu-Gaya L, Bejanin A, Lleó A, Fortea J, Alcolea D, Illan-Gala I. Association of Plasma Phosphorylated Tau 217 With Clinical Deterioration Across Alzheimer Disease Stages.. NEUROLOGY. 2025; 105(1)DOI:10.1212/WNL.0000000000213769. PMID:40472304. IF:(Q/D).
04/01/2024
Severe sperm DNA fragmentation may persist for up to 3 years after cytotoxic therapy in patients affected by Hodgkin lymphoma and non-Hodgkin lymphoma
Farnetani, G, Vannucci, M, Fino, MG, Cioppi, F, Rosta, V, Palma, M, Tamburrino, L, Vinci, S, Casamonti, E, Degl'Innocenti, S, Spinelli, M, Abrardo, C, Marchiani, S, Lotti, F, Muratori, M, Riera-Escamilla, A, Krausz, C. Severe sperm DNA fragmentation may persist for up to 3 years after cytotoxic therapy in patients affected by Hodgkin lymphoma and non-Hodgkin lymphoma. HUMAN REPRODUCTION. 2024; 39(3)DOI:10.1093/humrep/dead269. PMID:38177083. IF:6.100(Q1/1D).
12/10/2023
Frequency, morbidity and equity - the case for increased research on male fertility
Kimmins, S, Anderson, RA, Barratt, CLR, Behre, HM, Catford, SR, De Jonge, CJ, Delbes, G, Eisenberg, ML, Garrido, N, Houston, BJ, Jorgensen, N, Krausz, C, Lismer, A, Mclachlan, RI, Minhas, S, Moss, T, Pacey, A, Priskorn, L, Schlatt, S, Trasler, J, Trasande, L, Tüttelmann, F, Vazquez-Levin, MH, Veltman, JA, Zhang, F, O'Bryan, MK. Frequency, morbidity and equity - the case for increased research on male fertility. Nature Reviews Urology. 2023; DOI:10.1038/s41585-023-00820-4. PMID:37828407. IF:12.100(Q1/1D).
01/10/2023
3'IsomiR Species Composition Affects Reliable Quantification of miRNA/isomiR Variants by Poly(A) RT-qPCR: Impact on Small RNA-Seq Profiling Validation
Ferre, A, Santiago, L, Sánchez-Herrero, JF, López-Rodrigo, O, Sánchez-Curbelo, J, Sumoy, L, Bassas, L, Larriba, S. 3'IsomiR Species Composition Affects Reliable Quantification of miRNA/isomiR Variants by Poly(A) RT-qPCR: Impact on Small RNA-Seq Profiling Validation. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2023; 24(20)DOI:10.3390/ijms242015436. PMID:37895116. IF:4.900(Q1/3D).
18/09/2023
Improved phenotypic classification of male infertility to promote discovery of genetic causes
Wyrwoll, MJ, van der Heijden, GW, Krausz, C, Aston, KI, Kliesch, S, McLachlan, R, Ramos, L, Conrad, DF, O'Bryan, MK, Veltman, JA, Tüttelmann, F. Improved phenotypic classification of male infertility to promote discovery of genetic causes. Nature Reviews Urology. 2023; DOI:10.1038/s41585-023-00816-0. PMID:37723288. IF:12.100(Q1/1D).
06/09/2023
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023
Krausz, C, Navarro-Costa, P, Wilke, M, Tüttelmann, F. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023. Andrology. 2023; DOI:10.1111/andr.13514. PMID:37674303. IF:3.200(Q1/3D).
12/06/2023
Seminal extracellular vesicle sncRNA sequencing reveals altered miRNA/isomiR profiles as sperm retrieval biomarkers for azoospermia
Larriba S., Sánchez-Herrero J.F., Pluvinet R., López-Rodrigo O., Bassas L., Sumoy L.. Seminal extracellular vesicle sncRNA sequencing reveals altered miRNA/isomiR profiles as sperm retrieval biomarkers for azoospermia. Andrology. 2023; 12(1)DOI:10.1111/andr.13461. PMID:37245055. IF:3.200(Q1/3D).
01/05/2023
Experimental validation of seminal miR-31-5p as biomarker for azoospermia and evaluation of the effect of preanalytical variables
Plata-Pena, L, Lopez-Rodrigo, O, Bassas, L, Larriba, S. Experimental validation of seminal miR-31-5p as biomarker for azoospermia and evaluation of the effect of preanalytical variables. Andrology. 2023; 11(4)DOI:10.1111/andr.13286. PMID:36057114. IF:3.200(Q1/3D).
29/03/2023
Long-term effect of cytotoxic treatments on sperm DNA fragmentation in patients affected by testicular germ cell tumor
Farnetani G., Fino M.G., Cioppi F., Riera-Escamilla A., Tamburrino L., Vannucci M., Rosta V., Vinci S., Casamonti E., Turki L., Degl'Innocenti S., Spinelli M., Marchiani S., Lotti F., Muratori M., Krausz C.. Long-term effect of cytotoxic treatments on sperm DNA fragmentation in patients affected by testicular germ cell tumor. Andrology. 2023; 11(8)DOI:10.1111/andr.13429. PMID:36932666. IF:3.200(Q1/3D).
13/03/2023
Using Small Non-Coding RNAs in Extracellular Vesicles of Semen as Biomarkers of Male Reproductive System Health: Opportunities and Challenges
Larriba, S, Vigues, F, Bassas, L. Using Small Non-Coding RNAs in Extracellular Vesicles of Semen as Biomarkers of Male Reproductive System Health: Opportunities and Challenges. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2023; 24(6)DOI:10.3390/ijms24065447. PMID:36982521. IF:4.900(Q1/3D).
01/01/2023
Consensus and Diversity in the Management of Varicocele for Male Infertility: Results of a Global Practice Survey and Comparison with Guidelines and Recommendations
Shah, R, Agarwal, A, Kavoussi, P, Rambhatla, A, Saleh, R, Cannarella, R, Harraz, AM, Boitrelle, F, Kuroda, S, Hamoda, TAAAM, Zini, A, Ko, E, Calik, G, Toprak, T, Kandil, H, Gul, M, Parekh, N, Russo, GI, Tadros, N, Kadioglu, A, Arafa, M, Chung, E, Rajmil, O, Dimitriadis, F, Malhotra, V, Salvio, G, Henkel, R, Le, TV, Sogutdelen, E, Vij, S, Alarbid, A, Gudeloglu, A, Tsujimura, A, Calogero, AE, El Meliegy, A, Crafa, A, Kalkanli, A, Baser, A, Hazir, B, Giulioni, C, Cho, CL, Ho, CCK, Salzano, C, Zylbersztejn, DS, Tien, DMB, Pescatori, E, Borges, E, Serefoglu, EC, Sais-Hamza, E, Huyghe, E, Ceyhan, E, Caroppo, E, Castiglioni, F, Bahar, F, Gokalp, F, Lombardo, F, Gadda, F, Duarsa, GWK, Pinggera, GM, Busetto, GM, Balercia, G, Cito, G, Blecher, G, Franco, G, Liguori, G, Elbardisi, H, Keskin, H, Lin, H, Taniguchi, H, Park, HJ, Ziouziou, I, de la Rosette, J, Hotaling, J, Ramsay, J, Molina, JMC, Lo, KL, Bocu, K, Khalafalla, K, Bowa, K, Okada, K, Nagao, K, Chiba, K, Hakim, L, Makarounis, K, Hehemann, M, Pena, MR, Falcone, M, Bendayan, M, Martinez, M, Timpano, M, Altan, M, Fode, M, Al-Marhoon, MS, Gilani, MAS, Soebadi, MA, Gherabi, N, Sofikitis, N, Birowo, P, Kothari, P, Sindhwani, P, Javed, Q, Ambar, RF, Kosgi, R, Abou Ghayda, R, Adriansjah, R, Condorelli, RA, La Vignera, S, Micic, S, Kim, SHK, Fukuhara, S, Ahn, ST, Mostafa, T, Ong, TA, Takeshima, T, Amano, T, Barrett, T, Arslan, U, Karthikeyan, VS, Atmoko, W, Yumura, Y, Yuan, YM, Kato, Y, Jezek, D, Cheng, BKC, Hatzichristodoulou, G, Dy, J, Castane, ER, El-Sakka, AI, Bakircioglu, ME, Nguyen, Q, Sarikaya, S, Boeri, L, Tan, R, Moussa, MA, El-Assmy, A, Alali, H, Alhathal, N, Osman, Y, Perovic, D, Sajadi, H, Akhavizadegan, H, Vucinic, M, Kattan, S, Kattan, MS, Mogharabian, N, Phuoc, NHV, Ngoo, KS, Alkandari, MH, Alsuhaibani, S, Sokolakis, I, Babaei, M, King, MS, Diemer, T, Gava, MM, Henrique, R, Silva, RSE, Paul, GM, Mierzwa, TC, Glina, S, Siddiqi, K, Wu, H, Wurzacher, J, Farkouh, A, Son, H, Minhas, S, Lee, J, Magsanoc, N, Capogrosso, P, Albano, GJ, Lewis, SEM, Jayasena, CN, Alvarez, JG, Teo, C, Smith, RP, Chua, JB, Jensen, CFS, Parekattil, S, Finelli, R, Durairajanayagam, D, Karna, KK, Ahmed, A, Evenson, D, Umemoto, Y, Puigvert, A, Ceker, G, Colpi, GM. Consensus and Diversity in the Management of Varicocele for Male Infertility: Results of a Global Practice Survey and Comparison with Guidelines and Recommendations. World Journal of Mens Health. 2023; 41(1)DOI:10.5534/wjmh.220048. PMID:35791302. IF:4.000(Q1/2D).
01/01/2023
Sperm DNA methylome abnormalities occur both pre- and post-treatment in men with Hodgkin disease and testicular cancer
Chan D., Oros Klein K., Riera-Escamilla A., Krausz C., O’Flaherty C., Chan P., Robaire B., Trasler J.M.. Sperm DNA methylome abnormalities occur both pre- and post-treatment in men with Hodgkin disease and testicular cancer. Clinical Epigenetics. 2023; 15(1)DOI:10.1186/s13148-022-01417-1. PMID:36611168. IF:4.800(Q1/2D).
26/12/2022
Diverse monogenic subforms of human spermatogenic failure
Nagirnaja, L, Lopes, AM, Charng, WL, Miller, B, Stakaitis, R, Golubickaite, I, Stendahl, A, Luan, TPC, Friedrich, C, Mahyari, E, Fadial, E, Kasak, L, Vigh-Conrad, K, Oud, MS, Xavier, MJ, Cheers, SR, James, ER, Guo, JT, Jenkins, TG, Riera-Escamilla, A, Barros, A, Carvalho, F, Fernandes, S, Goncalves, J, Gurnett, CA, Jorgensen, N, Jezek, D, Jungheim, ES, Kliesch, S, McLachlan, RI, Omurtag, KR, Pilatz, A, Sandlow, J, Smith, J, Eisenberg, ML, Hotaling, JM, Jarvi, KA, Punab, M, Rajpert-De Meyts, E, Carrell, DT, Krausz, C, Laan, M, O'Bryan, MK, Schlegel, PN, Tuttelmann, F, Veltman, JA, Almstrup, K, Aston, KI, Conrad, DF. Diverse monogenic subforms of human spermatogenic failure. Nature Communications. 2022; 13(1)DOI:10.1038/s41467-022-35661-z. PMID:36572685. IF:16.600(Q1/1D).
15/12/2022
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia
Guzman-Jimenez, A, Gonzalez-Munoz, S, Cervan-Martin, M, Rivera-Egea, R, Garrido, N, Lujan, S, Santos-Ribeiro, S, Castilla, JA, Gonzalvo, MC, Clavero, A, Vicente, FJ, Maldonado, V, Villegas-Salmeron, J, Burgos, M, Jimenez, R, Pinto, MG, Pereira, I, Nunes, J, Sanchez-Curbelo, J, Lopez-Rodrigo, O, Pereira-Caetano, I, Marques, PI, Carvalho, F, Barros, A, Bassas, L, Seixas, S, Goncalves, J, Lopes, AM, Larriba, S, Palomino-Morales, RJ, Carmona, FD, Bossini-Castillo, L. Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia. Frontiers in Cell and Developmental Biology. 2022; 10DOI:10.3389/fcell.2022.1089782. PMID:36589743. IF:5.500(Q1/2D).
10/11/2022
Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility
Cervan-Martin, M, Tuttelmann, F, Lopes, AM, Bossini-Castillo, L, Rivera-Egea, R, Garrido, N, Lujan, S, Romeu, G, Santos-Ribeiro, S, Castilla, JA, Gonzalvo, MC, Clavero, A, Maldonado, V, Vicente, FJ, Gonzalez-Munoz, S, Guzman-Jimenez, A, Burgos, M, Jimenez, R, Pacheco, A, Gonzalez, C, Gomez, S, Amoros, D, Aguilar, J, Quintana, F, Calhaz-Jorge, C, Aguiar, A, Nunes, J, Sousa, S, Pereira, I, Pinto, MG, Correia, S, Sanchez-Curbelo, J, Lopez-Rodrigo, O, Martin, J, Pereira-Caetano, I, Marques, PI, Carvalho, F, Barros, A, Gromoll, J, Bassas, L, Seixas, S, Goncalves, J, Larriba, S, Kliesch, S, Palomino-Morales, RJ, Carmona, FD. Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility. Communications Biology. 2022; 5(1)DOI:10.1038/s42003-022-04192-0. PMID:36357561. IF:5.900(Q1/2D).