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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).
16/12/2022 Editorial: Genotype-phenotype correlations in neurodegenerative diseases: From clinical features to neuroimaging signatures
Ferraro, PM, Spotorno, N, Finegan, E, Sampedro, F, Caso, F. Editorial: Genotype-phenotype correlations in neurodegenerative diseases: From clinical features to neuroimaging signatures. Frontiers in Neurology. 2022; 13DOI:10.3389/fneur.2022.1100953. PMID:36588898. IF:3.400(Q2/5D).
16/12/2022 Secukinumab is effective and safe in the long-term treatment of plaque psoriasis in a daily practice setting: Multicenter study in 384 Spanish patients
Chicharro, P, Llamas-Velasco, M, Armesto, S, Acosta, EH, Vidal, D, Vilarrasa, E, Rivera-Diaz, R, De-la-Cueva, P, Martorell-Calatayud, A, Ballesca, F, Belinchon, I, Carretero, G, Rodriguez, L, Romero-Mate, A, Pujol-Montcusi, J, Salgado, L, Sahuquillo-Torralba, A, Coto-Segura, P, Rodriguez, OB, Feltes, R, Riera-Monroig, J, Dauden, E. Secukinumab is effective and safe in the long-term treatment of plaque psoriasis in a daily practice setting: Multicenter study in 384 Spanish patients. Dermatologic Therapy. 2022; 35(12)DOI:10.1111/dth.15929. PMID:36223184. IF:3.600(Q1/3D).
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).
14/12/2022 Influence of geographical latitude on vitamin D status: cross-sectional results from the BiomarCaRE consortium
Oskarsson, V, Eliasson, M, Salomaa, V, Reinikainen, J, Mannisto, S, Palmieri, L, Donfrancesco, C, Sans, S, Costanzo, S, de Gaetano, G, Iacoviello, L, Veronesi, G, Ferrario, MM, Padro, T, Thorand, B, Huth, C, Zeller, T, Blankenberg, S, Anderson, AS, Tunstall-Pedoe, H, Kuulasmaa, K, Soderberg, S. Influence of geographical latitude on vitamin D status: cross-sectional results from the BiomarCaRE consortium. BRITISH JOURNAL OF NUTRITION. 2022; 128(11)DOI:10.1017/S0007114521005080. PMID:34933700. IF:3.600(Q3/6D).
13/12/2022 Mutation update for the ACTN2 gene
Ranta-aho, J, Olive, M, Vandroux, M, Roticiani, G, Dominguez, C, Johari, M, Torella, A, Bohm, J, Turon, J, Nigro, V, Hackman, P, Laporte, J, Udd, B, Savarese, M. Mutation update for the ACTN2 gene. HUMAN MUTATION. 2022; 43(12)DOI:10.1002/humu.24470. PMID:36116040. IF:3.900(Q2/3D).
07/12/2022 Adopting transfer learning for neuroimaging: a comparative analysis with a custom 3D convolution neural network model
Soliman, A, Chang, JR, Etminani, K, Byttner, S, Davidsson, A, Martinez-Sanchis, B, Camacho, V, Bauckneht, M, Stegeran, R, Ressner, M, Agudelo-Cifuentes, M, Chincarini, A, Brendel, M, Rominger, A, Bruffaerts, R, Vandenberghe, R, Kramberger, MG, Trost, M, Nicastro, N, Frisoni, GB, Lemstra, AW, van Berckel, BNM, Pilotto, A, Padovani, A, Morbelli, S, Aarsland, D, Nobili, F, Garibotto, V, Ochoa-Figueroa, M. Adopting transfer learning for neuroimaging: a comparative analysis with a custom 3D convolution neural network model. BMC Medical Informatics and Decision Making. 2022; 22(SUPPL 6)DOI:10.1186/s12911-022-02054-7. PMID:36476613. IF:3.500(Q3/6D).
05/12/2022 Survey on the management of Pompe disease in routine clinical practice in Spain
Dominguez-Gonzalez, C, Diaz-Marin, C, Juntas-Morales, R, Nascimiento-Osorio, A, Rivera-Gallego, A, Diaz-Manera, J. Survey on the management of Pompe disease in routine clinical practice in Spain. Orphanet Journal of Rare Diseases. 2022; 17(1)DOI:10.1186/s13023-022-02574-5. PMID:36471448. IF:3.700(Q2/4D).