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3. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Author

Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D. C., Depienne, C., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jahn, J., Klein, K. M., Koeleman, B. P. C., Komarek, V., Leguern, E., Lehesjoki, A. -E., Lemke, J. R., Lerche, H., Linnankivi, T., Muhle, H., Pal, D. K., Palotie, A., Rosenow, F., Schubert-Bast, S., Selmer, K., Serratosa, J. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., Von Spiczak, S., Weber, Y. G., Zara, F., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Helbig, K. L., Majithia, A. R., Daly, M. J., EuroEPINOMICS-RES Consortium, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, University of Helsinki, Department of Medical and Clinical Genetics, Medicum, HUS Helsinki and Uusimaa Hospital District, and Wellcome Trust

Subjects
Candidate gene, lcsh:QH426-470, Developmental Disabilities, Mutation, Missense, Sequence Homology, lcsh:Medicine, ORTHOLOGS, Computational biology, Conservation, Gene family, Missense variants, Neurodevelopmental disorders, Paralogs, Biology, 03 medical and health sciences, MULTIPLE SEQUENCE ALIGNMENT, PHYLOGENETIC TREES, Genetics, Missense mutation, Ensembl, Molecular Biology, Gene, Genetics (clinical), Phylogeny, 030304 developmental biology, 0303 health sciences, 0604 Genetics, Phylogenetic tree, Research, 030305 genetics & heredity, lcsh:R, 1184 Genetics, developmental biology, physiology, 1103 Clinical Sciences, EuroEPINOMICS-RES Consortium, Human genetics, lcsh:Genetics, Genetic Loci, DE-NOVO MUTATIONS, Multigene Family, Molecular Medicine, Human medicine, Orthologous Gene, Genome-Wide Association Study
Abstract

Background Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes belong to gene families. The use of gene family information for disease gene discovery and variant interpretation has not yet been investigated on a genome-wide scale. We empirically evaluate whether paralog-conserved or non-conserved sites in human gene families are important in NDDs. Methods Gene family information was collected from Ensembl. Paralog-conserved sites were defined based on paralog sequence alignments; 10,068 NDD patients and 2078 controls were statistically evaluated for de novo variant burden in gene families. Results We demonstrate that disease-associated missense variants are enriched at paralog-conserved sites across all disease groups and inheritance models tested. We developed a gene family de novo enrichment framework that identified 43 exome-wide enriched gene families including 98 de novo variant carrying genes in NDD patients of which 28 represent novel candidate genes for NDD which are brain expressed and under evolutionary constraint. Conclusion This study represents the first method to incorporate gene family information into a statistical framework to interpret variant data for NDDs and to discover new NDD-associated genes.

Published
2020
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8. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Author

EPICURE Consortium, Leu C., de Kovel C. G., Zara F., Striano P., Pezzella M., Robbiano A., Bianchi A., Coppola A., Giallonardo A. T., Beccaria F., Trenité D. K., Lindhout D., Gaus V., Schmitz B., Janz D., Weber Y. G., Becker F., Lerche H., Kleefuss Lie A. A., Hallman K., Kunz W. S., Elger C. E., Muhle H., Stephani U., Møller R. S., Hjalgrim H., Mullen S., Scheffer I. E., Berkovic S. F., Everett K. V., Gardiner M. R., Marini C., Guerrini R., Lehesjoki A. E., Siren A., Nabbout R., Baulac S., Leguern E., Serratosa J. M., Rosenow F., Feucht M., Unterberger I., Covanis A., Suls A., Weckhuysen S., Kaneva R., Caglayan H., Turkdogan D., Baykan B., Bebek N., Ozbek U., Hempelmann A., Schulz H., Rüschendorf F., Trucks H., Nürnberg P., Avanzini G., Koeleman B. P., Sander T., BISULLI, FRANCESCA, TINUPER, PAOLO, YÜCESAN, EMRAH, EPICURE Consortium, Leu C., de Kovel C.G., Zara F., Striano P., Pezzella M., Robbiano A., Bianchi A., Bisulli F., Coppola A., Giallonardo A.T., Beccaria F., Trenité D.K., Lindhout D., Gaus V., Schmitz B., Janz D., Weber Y.G., Becker F., Lerche H., Kleefuss-Lie A.A., Hallman K., Kunz W.S., Elger C.E., Muhle H., Stephani U., Møller R.S., Hjalgrim H., Mullen S., Scheffer I.E., Berkovic S.F., Everett K.V., Gardiner M.R., Marini C., Guerrini R., Lehesjoki A.E., Siren A., Nabbout R., Baulac S., Leguern E., Serratosa J.M., Rosenow F., Feucht M., Unterberger I., Covanis A., Suls A., Weckhuysen S., Kaneva R., Caglayan H., Turkdogan D., Baykan B., Bebek N., Ozbek U., Hempelmann A., Schulz H., Rüschendorf F., Trucks H., Nürnberg P., Avanzini G., Koeleman B.P., Sander T., and Tinuper P.

Subjects
Male, Chromosomes, Human, Pair 13, Genotype, Genetic Linkage, Chromosome Mapping, complex inheritance, Pedigree, genetic generalized epilepsy, myoclonic seizure, Phenotype, Genetic Loci, Chromosomes, Human, Pair 2, Humans, Epilepsy, Generalized, Family, Female, Genetic Predisposition to Disease, linkage analysis, absence seizure, Genome-Wide Association Study
Abstract

PURPOSE: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure type-related genetic factors preferentially predisposing to either typical absence or myoclonic seizures, respectively. METHODS: Meta-analysis of three genome-wide linkage datasets was carried out in 379 GGE-multiplex families of European ancestry including 982 relatives with GGEs. To dissect out seizure type-related susceptibility genes, two family subgroups were stratified comprising 235 families with predominantly genetic absence epilepsies (GAEs) and 118 families with an aggregation of juvenile myoclonic epilepsy (JME). To map shared and seizure type-related susceptibility loci, both nonparametric loci (NPL) and parametric linkage analyses were performed for a broad trait model (GGEs) in the entire set of GGE-multiplex families and a narrow trait model (typical absence or myoclonic seizures) in the subgroups of JME and GAE families. KEY FINDINGS: For the entire set of 379 GGE-multiplex families, linkage analysis revealed six loci achieving suggestive evidence for linkage at 1p36.22, 3p14.2, 5q34, 13q12.12, 13q31.3, and 19q13.42. The linkage finding at 5q34 was consistently supported by both NPL and parametric linkage results across all three family groups. A genome-wide significant nonparametric logarithm of odds score of 3.43 was obtained at 2q34 in 118 JME families. Significant parametric linkage to 13q31.3 was found in 235 GAE families assuming recessive inheritance (heterogeneity logarithm of odds = 5.02). SIGNIFICANCE: Our linkage results support an oligogenic predisposition of familial GGE syndromes. The genetic risk factor at 5q34 confers risk to a broad spectrum of familial GGE syndromes, whereas susceptibility loci at 2q34 and 13q31.3 preferentially predispose to myoclonic seizures or absence seizures, respectively. Phenotype- genotype strategies applying narrow trait definitions in phenotypic homogeneous subgroups of families improve the prospects of disentangling the genetic basis of common familial GGE syndromes.

Published
2012

9. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1,2q22.3 and 17q21.32

Author

Steffens, M., Leu, C., Ruppert, A., Zara, F., Striano, P., Robbiano, A., Capovilla, G., Tinuper, P., Gambardella, A., Bianchi, A., La neve, A., Crichiutti, G., de kovel, C. G., Trenité, D. K. -N., de haan, G., Lindhout, D., Gaus, V., Schmitz, B., Janz, D., Weber, Y. G., Becker, F., Lerche, H., Steinhoff, B. J., Kleefuß-Lie, A. A., Kunz, W. S., Surges, R., Elger, C. E., Muhle, H., Von spiczak, S., Ostertag, P., Helbig, I., Stephani, U., Møller, R. S., Hjalgrim, H., Dibbens, L. M., Bellows, S., Oliver, K., Mullen, S., Scheffer, I. E., Berkovic, S. F., Everett, K. V., Gardiner, M. R., Marini, Chiara, Guerrini, R., Lehesjoki, A., Siren, A., Guipponi, M., Malafosse, A., Thomas, P., Nabbout, R., Baulac, S., Leguern, E., Guerrero, R., Serratosa, J. M., Reif, P. S., Rosenow, F., Mörzinger, M., Feucht, M., Zimprich, F., Kapser, C., Schankin, C. J., Suls, A., Smets, K., De jonghe, P., Jordanova, A., Caglayan, H., Yapici, Z., Yalcin, D. A., Baykan, B., Bebek, N., Ozbek, U., Gieger, C., Wichmann, H., Balschun, T., Ellinghaus, D., Franke, A., Meesters, C., Becker, T., Wienker, T. F., Hempelmann, A., Schulz, H., Rüschendorf, F., Leber, M., Pauck, S. M., Trucks, H., Toliat, M. R., Nürnberg, P., Avanzini, G., Koeleman, B. P., Sander, T., Weckhuysen, S., Claes, L., Deprez, L., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Lehesjoki, A. -E., von Spiczak, S., Martin Klein, K., Oertel, W. H., Hamer, H. M., Marini, C., Mei, D., Norci, V., Pezzella, M., La Neve, A., Vigliano, P., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Egeo, G., Teresa Giallonardo, M., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., de Haan, G. -J., Giraldez, B. G., Ozbeck, U., Ozdemir, O., Ugur, S., Kocasoy-Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Ozkara, C., Yalcin, O., Turkdogan, D., Dizdarer, G., Agan, K., Steffens, Michael, Leu, Costin, Ruppert, Ann-Kathrin, Zara, Frederico, Dibbens, Leanne Michelle, Sander, Thomas, EPICURE Consortium, Epicure, Consortium, DEL GIUDICE, Ennio, Steffens, M, Leu, C, Ruppert, Ak, Zara, F, Striano, P, Robbiano, A., Coppola, Antonietta, E. P. I. C. U. R. E. Consortium, E. M. I.Net Consortium, M. Steffen, C. Leu, A. Ruppert, F. Zara, P. Striano, A. Robbiano, G. Capovilla, P. Tinuper, A. Gambardella, A. Bianchi, A. L. Neve, G. Crichiutti, C. G. F, D. K. Trenité, G. d. Haan, D. Lindhout, V. Gau, B. Schmitz, D. Janz, Y. G. Weber, F. Becker, H. Lerche, B. J. Steinhoff, A. A. Kleefuß-Lie, W. S. Kunz, R. Surge, C. E. Elger, H. Muhle, S. v. Spiczak, P. Ostertag, I. Helbig, U. Stephani, R. S. Møller, H. Hjalgrim, L. M. Dibben, S. Bellow, K. Oliver, S. Mullen, I. E. Scheffer, S. F. Berkovic, K. V. Everett, M. R. Gardiner, C. Marini, R. Guerrini, A. Lehesjoki, A. Siren, M. Guipponi, A. Malafosse, P. Thoma, R. Nabbout, S. Baulac, E. Leguern, R. Guerrero, J. M. Serratosa, P. S. Reif, F. Rosenow, M. Mörzinger, M. Feucht, F. Zimprich, C. Kapser, C. J. Schankin, A. Sul, K. Smet, P. D. Jonghe, A. Jordanova, H. Caglayan, Z. Yapici, D. A. Yalcin, B. Baykan, N. Bebek, U. Ozbek, C. Gieger, H. Wichmann, T. Balschun, D. Ellinghau, A. Franke, C. Meester, T. Becker, T. F. Wienker, A. Hempelmann, H. Schulz, F. Rüschendorf, M. Leber, S. M. Pauck, H. Truck, M. R. Toliat, P. Nürnberg, G. Avanzini, B. P. C, and T. Sander

Subjects
Candidate gene, Juvenile, Genome-wide association study, Alleles, Epilepsy, ZEB2 protein, human, VRK2 protein, human, 0302 clinical medicine, genetics [Genetic Predisposition to Disease], genetics, Humans, Myoclonic Epilepsy, genetics [Epilepsy, Generalized], SCN1A protein, human, Genetics (clinical), Genetics, 0303 health sciences, genetics [Epilepsy, Absence], Myoclonic Epilepsy, Juvenile, genetics, Genetic Predisposition to Disease, General Medicine, Protein-Serine-Threonine Kinases, 3. Good health, Chemistry, Absence, genetics, Epilepsy, genetics [Myoclonic Epilepsy, Juvenile], Epilepsy, Generalized, genetics [Receptor, Muscarinic M3], genetics, NAV1.1 Voltage-Gated Sodium Channel, genetics [Homeodomain Proteins], Single-nucleotide polymorphism, genetics [NAV1.1 Voltage-Gated Sodium Channel], Protein Serine-Threonine Kinases, Biology, genetics [Protein-Serine-Threonine Kinases], 03 medical and health sciences, ddc:570, Genetic variation, medicine, Humans, Genetic Predisposition to Disease, genetics, Repressor Protein, Allele, Molecular Biology, Alleles, Zinc Finger E-box Binding Homeobox 2, 030304 developmental biology, Homeodomain Proteins, Receptor, Muscarinic M3, genetics, Protein-Serine-Threonine Kinase, genetics, Receptor, Generalized, genetics, Genome-Wide Association Study, Homeodomain Protein, Heritability, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, Repressor Proteins, genetics [Repressor Proteins], Muscarinic M3, Epilepsy, Absence, Myoclonic epilepsy, Human medicine, Juvenile myoclonic epilepsy, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3\% and account for 20-30\% of all epilepsies. Despite their high heritability of 80\%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared across common GGE syndromes, we carried out a two-stage genome-wide association study (GWAS) including 3020 patients with GGEs and 3954 controls of European ancestry. To dissect out syndrome-related variants, we also explored two distinct GGE subgroups comprising 1434 patients with genetic absence epilepsies (GAEs) and 1134 patients with juvenile myoclonic epilepsy (JME). Joint Stage-1 and 2 analyses revealed genome-wide significant associations for GGEs at 2p16.1 (rs13026414, P(meta) = 2.5 × 10(-9), OR[T] = 0.81) and 17q21.32 (rs72823592, P(meta) = 9.3 × 10(-9), OR[A] = 0.77). The search for syndrome-related susceptibility alleles identified significant associations for GAEs at 2q22.3 (rs10496964, P(meta) = 9.1 × 10(-9), OR[T] = 0.68) and at 1q43 for JME (rs12059546, P(meta) = 4.1 × 10(-8), OR[G] = 1.42). Suggestive evidence for an association with GGEs was found in the region 2q24.3 (rs11890028, P(meta) = 4.0 × 10(-6)) nearby the SCN1A gene, which is currently the gene with the largest number of known epilepsy-related mutations. The associated regions harbor high-ranking candidate genes: CHRM3 at 1q43, VRK2 at 2p16.1, ZEB2 at 2q22.3, SCN1A at 2q24.3 and PNPO at 17q21.32. Further replication efforts are necessary to elucidate whether these positional candidate genes contribute to the heritability of the common GGE syndromes.

Published
2012
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10. Comparison of levetiracetam and controlled-release carbamazepine in newly diagnosed epilepsy

Author

Brodie, M. J, Perucca, E, Ryvlin, P, Ben Menachem, E, Meencke, H. J, Van Landegem, W, Ossemann, M, Sadzot, B, Van Paesschen, W, Van Zandijcke, M, Hovorka, J, Marusic, P, Pazdera, L, Rektor, I, Stolcova, E, Tislerova, D, Kalviainen, R, Korpelainen, J, Peltola, J, Ranua, J, Geraud, G, Hirsch, E, Josien, E, Vercueil, L, Vespignani, H, Jeschke Rohrich, B, Keidel, M, Mattern, W, Ochs, G, Schmitz, B, Schumann, G, Balogh, A, Clemens, B, Czopf, J, Halasz, P, Rajna, P, Vecsei, L, Baruzzi, A, Beghi, A. E, Canevini, M. P, De Feo, M. R, Lamberti, P, Marciani, M. G, Marrosu, F, Mazza, Salvatore, Monaco, F, Mutani, R, Regesta, G, Zaccara, G, Drozdowski, W, Fryze, W, Jedrzejczak, J, Nowaki, P, Selmaj, K, Stelmasiak, Z, Wajgt, A, Bryer, A, Coetzee, C, Gardiner, J, Haug, P, Isaacs, M, Kelbe, C, Modi, G, Opperman, D, Shah, N, Wolberg, S, Arbizu, T, Forcadas, I, Macin Eiras, J. L, Martinez, M, Marti Masso, J. F, Molins, A, Serratosa, J. M, Borre, B, Kallen, K, Kumlien, E, Lindberger, M, Palm, R, Carpay, J. A, Sanders, E. A. C. M, Van Leusden, J. A, Vecht, C, Roberts, R. C, Smith, P, and Tidswell, P.

Subjects
business.industry, levetiracetam, oxcarbazepine, Carbamazepine, medicine.disease, law.invention, Epilepsy, Settore MED/26 - NEUROLOGIA, Tolerability, Randomized controlled trial, law, Anesthesia, Clinical endpoint, Medicine, epilepsy, Neurology (clinical), Levetiracetam, business, Adverse effect, Oxcarbazepine, medicine.drug
Abstract

Objective: We report the results of a prospective study of the efficacy and tolerability of levetiracetam, a new antiepileptic drug with a unique mechanism of action, in comparison with controlled-release carbamazepine as first treatment in newly diagnosed epilepsy. Methods: Adults with ≥2 partial or generalized tonic–clonic seizures in the previous year were randomly assigned to levetiracetam (500 mg twice daily, n = 288) or controlled-release carbamazepine (200 mg twice daily, n = 291) in a multicenter, double-blind, noninferiority, parallel-group trial. If a seizure occurred within 26 weeks of stabilization, dosage was increased incrementally to a maximum of levetiracetam 1,500 mg twice daily or carbamazepine 600 mg twice daily. Patients achieving the primary endpoint (6-month seizure freedom) continued on treatment for a further 6-month maintenance period. Results: At per-protocol analysis, 73.0% (56.6%) of patients randomized to levetiracetam and 72.8% (58.5%) receiving controlled-release carbamazepine were seizure free at the last evaluated dose (adjusted absolute difference 0.2%, 95% CI −7.8% to 8.2%) for ≥6 months (1 year). Of all patients achieving 6-month (1-year) remission, 80.1% (86.0%) in the levetiracetam group and 85.4% (89.3%) in the carbamazepine group did so at the lowest dose level. Withdrawal rates for adverse events were 14.4% with levetiracetam and 19.2% with carbamazepine. Conclusions: Levetiracetam and controlled-release carbamazepine produced equivalent seizure freedom rates in newly diagnosed epilepsy at optimal dosing in a setting mimicking clinical practice. This trial has confirmed in a randomized, double-blind setting previously uncontrolled observations that most people with epilepsy will respond to their first-ever antiepileptic drug at low dosage.

Published
2007

11. Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

Author

Criado, O., primary, Aguado, C., additional, Gayarre, J., additional, Duran-Trio, L., additional, Garcia-Cabrero, A. M., additional, Vernia, S., additional, Millan, B. S., additional, Heredia, M., additional, Roma-Mateo, C., additional, Mouron, S., additional, Juana-Lopez, L., additional, Dominguez, M., additional, Navarro, C., additional, Serratosa, J. M., additional, Sanchez, M., additional, Sanz, P., additional, Bovolenta, P., additional, Knech, E., additional, and de Cordoba, S. R., additional

Published
2012
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13. Questionnaire of Memory Efficiency--Spanish Version

Author

Salas-Puig, J., primary, Gil-Nagel, A., additional, Serratosa, J. M., additional, Sánchez-Álvarez, J. C., additional, Elices, E., additional, Villanueva, V., additional, Carreño, M., additional, Álvarez-Carriles, J., additional, and Porcel, J., additional

Published
2009
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17. Long-term safety and efficacy of eslicarbazepine acetate in patients with focal seizures: Results of the 1-year ESLIBASE retrospective study.

Author

Villanueva, V., Serratosa, J. M., Guillamón, E., Garcés, M., Giráldez, B. G., Toledo, M., Salas-Puig, J., González, F. J. López, Flores, J., Rodríguez-Uranga, J., Castillo, A., Mauri, J. A., Camacho, J. L., López-Gomáriz, E., Giner, P., Torres, N., Palau, J., and Molins, A.

Subjects
*ACETATES, *SPASMS, *CARBAMAZEPINE, *TARGETED drug delivery, *DIZZINESS, *NAUSEA, *THERAPEUTICS
Abstract

Background Eslicarbazepine acetate (ESL) is a new antiepileptic drug (AED) licensed as adjunctive therapy in adults with partial-onset or focal seizures. Objective To evaluate in a clinical practice setting the long-term efficacy and safety of ESL in patients with focal seizures. Methods ESLIBASE was a retrospective study that included all patients with focal seizures who started ESL between January 2010 and July 2012 at 12 hospitals. ESL was prescribed individually according to real-life practice. Efficacy and safety were evaluated over 1 year. Switching from carbamazepine (CBZ) and oxcarbazepine (OXC) was assessed. Results Three hundred and twenty-seven patients were included; 78% of patients were taking ≥2 other AEDs at baseline. Most (87%) began ESL because of poor seizure control and13% because of adverse events (AEs) with CBZ or OXC. After 1 year, 237 patients (72.4%) remained on ESL. At 3, 6 and 12 months, the responder rate was 46.3%, 57.9%, and 52.5%, and 21.0%, 28.0%, and 25.3% of patients were seizure free. The responder rate significantly increased when ESL was combined with a non-sodium channel-targeting drug (non-SC drug) (66.7%) versus an SC drug (47.7%; p < 0.001). At 12 months, 40.7% of patients had ≥1 AE; AEs led to treatment discontinuation in 16.2%. Dizziness, nausea, and somnolence were the most common AEs. The tolerability profile improved in >50% of the patients who switched from CBZ or OXC to ESL because of AEs. Conclusions ESL was well tolerated and effective in a real-world setting over 1 year. Side-effect profile improved when OXC and CBZ recipients were switched to ESL. [ABSTRACT FROM AUTHOR]

Published
2014
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18. Juvenile myoclonic epilepsy in chromosome 6p12-p11: Locus heterogeneity and recombinations

Author

Liu, A. W., primary, Delgado-Escueta, A. V., additional, Gee, M. N., additional, Serratosa, J. M., additional, Zhang, Q. W., additional, Alonso, M. E., additional, Medina, M. T., additional, Cordova, S., additional, Zhao, H. Z., additional, Spellman, J. M., additional, Donnadieu, F. Rubio, additional, Peek, J. Ramos, additional, Treiman, L. J., additional, and Sparkes, R. S., additional

Published
1996
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19. Randomized phase III study 306.

Author

Krauss, G. L., Serratosa, J. M., Villanueva, V., Endziniene, M., Hong, Z., French, J., Yang, H., Squillacote, D., Edwards, H. B., Zhu, J., and Laurenza, A.

Published
2012
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25. Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.

Author

Minassian, Berge A., Sainz, Jesus, Serratosa, Jose M., Gee, Manyee, Sakamoto, Lise M., Bohlega, Saeed, Geoffroy, Guy, Barr, Cathy, Scherer, Steve W., Tomiyasu, Uwamie, Carpenter, Stirling, Wigg, Karen, Sanghvi, A. V., Delgado-Escueta, Antonio V., Minassian, B A, Sainz, J, Serratosa, J M, Gee, M, Sakamoto, L M, and Bohlega, S

Published
1999
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27. Estudio abierto, prospectivo y observacional de eficacia y tolerabilidad con levetiracetam durante 1 año de seguimiento.

Author

Villanueva, V., Gómez-Caigoya, A., Gutiérrez-Delicado, E., and Serratosa, J. M.

Subjects
PATIENTS, EPILEPSY, ANTICONVULSANTS, SEIZURES (Medicine), DROWSINESS, CLINICAL medicine
Abstract

Copyright of Neurologia (Grupo ARS XXI de Comunicacion, S.A.) is the property of Grupo ARS XXI de Comunicacion, S.A. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2007

28. General discussion.

Author

Watillon, A., Dukhin, S. S., Pfeifer, H., Clifford, J., Peschel, G., Smith, A. L., Overbeek, J. Th. G., Willis, E., Hair, M. L., Serratosa, J. M., Stone, W., Anderson, R. G. W., White, J. W., Hecht, A. M., Geissler, E., Pethica, B. A., and Breuer, M. M.

Published
1970
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30. Nanostructured Hybrid Materials Formed by Sequestration of Pyridine Molecules in the Tunnels of Sepiolite

Author

Kuang, W., Facey, G. A., Detellier, C., Casal, B., Serratosa, J. M., and Ruiz-Hitzky, E.

Abstract

The process of incorporation of pyridine in the nanostructured tunnels of sepiolite was studied in detail, using various complementary characterization techniques, microporosimetry, thermal gravimetric analysis, FTIR, and multinuclear solid-state NMR. It is demonstrated that a remarkable nanohybrid material, SEP−PYR, is formed through the direct coordination of pyridine to the edge Mg(II) sites of the tunnels. This material is formed at temperatures above 140 °C when the sepiolite tunnels are dehydrated and the pyridine molecules are trapped in the tunnels. In a first step toward the formation of SEP−PYR, the pyridine molecules were incorporated at room temperature in the tunnels, by exposing sepiolite to pyridine vapors. The incorporated pyridine molecules are H-bound to the structural water molecules coordinated to the edge Mg(II) cations. In a second step, upon heating to 140 °C, approximately 50% of the pyridine is lost, together with most of the structural water coordinated to Mg(II). This event is accompanied by direct coordination of the remaining pyridine molecules in the tunnels to the edge Mg(II) ions of the octahedral sheets, resulting in a material with a structure similar to the parent sepiolite, but with pyridine molecules coordinated to the Mg(II) edge cations. This material is stable up to 450 °C. At this temperature, the coordinated pyridine molecules escape from the tunnels, resulting in a collapsed sepiolite structure.

Published
2003

32. 29Si MAS-NMR spectroscopy of mica-type silicates: Observed and predicted distribution of tetrahedral Al-Si

Author

Herrero, C. P., Gregorkiewitz, M., Sanz, J., and Serratosa, J. M.

Abstract

29Si MAS-NMR spectra were obtained for vermiculite with tetrahedral composition x=Al/(Al+Si)=0.28, a synthetic mica with x=0.43, and margarite with x=0.5. Comparison between the observed and Monte-Carlo simulated spectra was used to test different Al-Si distribution schemes in the tetrahedral sheet. The results of this analysis are interpreted including earlier data corresponding to lower Al for Si substitutions (0.12=x=0.28), and it is shown that for all samples (8 compositions in the range 0.1=x=0.5) the Al-Si distribution complies with the principle of homogeneous dispersion of charges (HDC). Thus, Al-Si distribution models for any particular x can be predicted on the basis of a simple crystallochemical criterion. HDC is a short range order concept and implies that, within the restrictions imposed by the principle, charges be distributed at random. For increasing values of x, however, the observance of HDC implies a coupling between adjacent hexamer rings which restricts the degrees of freedom for random distribution and is equivalent to a progressive extension of order. This is reflected by the frequencies of meta and para substitutions in the hexamer rings, which vary in a characteristical, continuous way with x, until the fully ordered distribution scheme of margarite (x=0.5) is reached. Partial long-range order for x<0.5, with alternating Si and (Al+Si) tetrahedra and all substitutions in meta disposition, could not be confirmed.

Published
1987
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33. Anales de Edafología y Agrobiología Tomo 23

Author

González García, F., Laberto Carreño, C. E., Arámbarri, Pablo, Prelat, Carlo E., Mazza, Carlos A., Grassi, Reynaldo L., Vallejos, Waldo, Tombesi, Luciano, Calè, Mª Teresa, Dios Vidal, Ramón, Hernando Fernández, Valentín, Jimeno, L., Cadahía, Carlos, Lagunas, Rosario, González, Gaspar, Cosin, Carlos, Pérez, Mª Eulallia, Hoyos de Castro, Ángel, González, Margarita, Recalde, Luis, Lombardía, Vicente, Bonel, José, Valdivia, Antonio de, Laborda, E., Alías Pérez, Luis J., Ortuño, A., Alvarez Molina, Carlos, Parra Gilabert, María, Fernández Álvarez, Teófilo, Hernández Chesa, A., González Bernáldez, F., Besoain, Eduardo, Serratosa, J. M., Hidalgo, Antonio, García Gómez, M., Rivas Martínez, Salvador, Martín Martínez, F., Sánchez de la Puente, L., Lucena Conde, Felipe, Guerra, A., Rodríguez, Julio, Sánchez, Benito, Fritz Baade, H. C., Martín Vivaldi, J. L., Rodríguez Gallego, M., Rausell-Colom, José A., Mac Ewan, D. M. C., Guitián Ojea, F., Mihelcic, Franz, Martín Patino, M. T., Alonso Pascual, Juan J., Briones, F. B., Gallego, Rafael, Burriel, F., Pérez Carretero, P., Sanz Arias, R., Zorita, Eduardo, Sáinz-Amor, E., Font-Altaba, M., Alcaraz Molina, Carlos, Ayerbe, M., Viéitez Cortizo, Ernesto, Seoane, Eliseo, Gesto, María Dolores V., Méndez, Jesús, Cruz Mato, Mª, Vázquez, Adelina, Martín Granda, José, Oleellus, Prays, and Fenoliera Gutiérrez, José Mª

Abstract

Determinación de agua interlaminar de la montmorillonita con el reactivo Karl Fischer, por S. González García. y C. E. Labarta Carreño.-- Clases de fósforo inorgánico cambiable isotópicamente en los suelos calizos. II. Relación entre el fósforo cambiable isotópicamente en forma rápida y el contenido en arcilla de los suelos calizos, por P. de Arambarri.-- Variaciones de la adsorción de cationes por el suelo con la concentración y la temperatura. Comprobación de la ecuación hiperbólica de Vageler, por Carlos C. Prelat, Carlos A. Mazza, Reynaldo L. Grassi y Waldo Vallejos.-- Nutrizione idrica e metabolismo dei vegetali in funzione delle diferenti dis ponibilita idriche del suo’o, por Luciano Tombesi y Mª Teresa Cale .-- Poder generador de radón en suelos gallegos en relación con otros grandes grupos mundiales y con el contenido en plomo total, por Ramón Dios Vidal.-- Estudio del estado de nutrición de las tomateras mediante el análisis de la savia, por V. Hernando, L. Jimeno y C. Cadahia.-- Estudio comparativo de distintos métodos de extracción de hierro, cobre y manganeso, de suelos torestales, por R. Lagunas Gil.-- Relación del contenido de hierro, cobre, manganeso y molibdeno en plantas con el contenido y pH del suelo. l. Especies del género «Quercus», por .R. Lagunas Gil.-- Contribución a la segunda cadena internacional para la normalización de los métodos de análisis de los alimentos del ganado, por Gaspar González, Carlos Cosín y Mª Eulalia Pérez.—Notas.-- Necrológicas: Excmo. Sr. D. Joaquín Benjumea y Burín, Conde de Benjumea.-- Profesor Dr. Hans Kuron (1904-1963).-- Profesor Dr. Cario Ferrari (1910-1963).-- Curso Internacional de Edafolügía (II Parte).-- Asistencia a Congresos.-- Actividad de los Centros.-- Cursos del International Training Center for Postgraduate Soil Scientist Fundación de la European Grassland Federation.—III. Reunión Técnica de la Sección de Refractarios.-- III. Salón de la Cerámica. Feria Muestrario Internacional.-- VII Congreso Internacional del Vidrio.-- Estudio de suelos sobre peridotitas de la serranía de Ronda, por Angel Hoy os y Margarita González.-- Clases de fósforo inorgánico cambiable isotópicamente en los suelos calizos. III. Relación entre el fósforo cambiable isotópicamente en forma lenta y el contenido en carbonato ele los suelos calizos, por P. de Arambarri.-- Diagnóstico foliar de las condiciones nutritivas de la caña de azúcar. I. Relación entre la cosecha y el contenido de nutrientes en la hoja, por Luis Recalde, Vicente Lombardía, José Bonel y Antonio de Valdivia.-- Diagnóstico foliar de las condiciones nutritivas de la caña de azúcar. II. Relación entre la cosecha y el contenido de nutrientes en la hoja, por Luis Recalde, Vicente Lombardía, José Bonel y Antonio de Valdivia.-- Relación del contenido de hierro, cobre, manganeso y molibdeno en plantas, con el contenido y el pH del suelo. II. Especies del género Pinus, por H. Lagunas Gil.-- Puesta a punto del método de diagnóstico precoz del «repilo» del olivo (Cycloconium oleaginum Cast.), por Eugenio Laborda Rodríguez.-- Mineralogía de un podsol húmico férrico, por L. J. .-- Fluctuaciones de los niveles de manganeso en órganos de Citrus durante la floración primaveral, por Angel Otuño Martínez, Carlos Alvanz Molina y Maria Parra Gilabert .-- Acción del ácido clorhídrico sobre los minerales de la arcilla. IV. Cambios en su deshidratación y rehidratación, por T. Fernández Alvarez y A. Hernandez Chesa.-- Punto de compensación entre fotosíntesis y respiración en función del estado de hidratación de las hojas del tomate, por Femando González Notas. Aniyersario del Prof. Taboadela .-- Conmemoración del XXV aniversario del Consejo Superior de Investigaciones Científicas.-- Conferencia por el Prof. H. A. Krebs.-- Ciclo de conferencias.-- Conferencia del Pro!. Dr. H. C. Fritz Baade.-- Conferencia de la Dra. Elizabeth Work.-- Curso internacional de radioisótopos y radiación en Entomología.-- Coloquio internacional sobre virus de la remolacha azucarera.-- Investidura de doctor honoris causa del Prof. Baade, por la Universidad Hispalense.-- Fundación alemana para los países en desarrollo.-- Real Sociedad Española de Historia Natural.-- Publicación de una Colección de obras científicas.-- Concurso científico para 1964.-- Bibliografía. Fitotopografía, por Pedro Montserrat Recoder.-- Espectros de absorción infrarroja de la fracción arcilla de suelos volcánicos de Chile, por E. Besoain, J. M. Serratosa y A. Hidalgo.-- Geoquímica de cobalto en los suelos de Andalucía occidental. I. Contenido en cobalto total y caracteres generales de .los suelos del valle del Guadalquivir, por F. González García y A. M. García Gómez.-- Relaciones entre los suelos y la vegetación en la comarca de la Puebla de Lillo (León), por Salvador Rivas Martínez.-- Productos obtenidos en la degradación de la materia húmica de suelos calizos andaluces. I. Degradación ácida de una xerorrendsina de Sevilla, por F. Martín Martínez.-- Contenido de hierro. cobre y manganeso en hojas de Fagus silvática y su relación con las fracciones del suelo, solubles en distintas soluciones extractoras, por R. Lagunas Gil.-- Diagnóstico foliar de los cereales. II. Interacciones de los nutrientes de la hoja y obtención del equilibrio NPK óptimo para la avena sativa, por L. Sánchez de la Puente y F. Lucena Conde.-- Experimentación con urea y sulfato amónico en patatas, pimientos y algodón, por V. Remando, L. Jimeno, A. Guerra y J. Rodríguez.-- Estudio químico de suelos naturales y agrícolas gallegos y de. las relaciones entre su contenido en nutrientes. I. Acidez, materia orgánica y nitrógeno, por Benito Sánchez y Ramón Dios.-- Estudio químico de suelos naturales y agrícolas gallegos y de las relaciones entre su contenido en nutrientes. II. Fósforo y potasio, por Benito Sánchez y Ramón Dios.-- Estudio químico de suelos naturales y agrícolas gallegos, y de las relaciones entre su contenido en nutrientes. IV. Manganeso, hierro y aluminio, por Benito Sánchez y Ramón Dios.-- La economía del sur de España en la Europa del mañana, por el Prof. Dr. H. C. Fritz Baade.-- Notas. El Dr. Hernando visita Centros de Investigación Agrícola de Estados Unidos.-- Visita a Centros de Investigación extranjeros.-- Invitaciones a profesores extranjeros.-- Instituto Nacional de Edafología y Agrobiología.-- Noticias de los Centros.-- Congresos y Reuniones Internacionales.-- Becas nacionales.-- XXV Aniversario de la Fundación del Consejo Superior de Investigacione~ Científicas. Madrid, 20-25 octubre 1964.-- BrBLIOGRAFÍA.-García Lozano, F. y González Bcrnáldez, F.: Métodos en uso y su empleo para cálculo de la evapo-transpiración, por Pedro Monserrat Recoder.-- Geoquímica del cobalto en los suelos de Andalucía occidental. II. 'Dist,·ibución del cobalto total en las fracciones del suelo de distinto diámetro de partícuia, por F. González Garcia y A. M. García Gómez.-- Geoquímica del cobalto en los suelós de Andalucía occidental. III. Cobalto total en relación con la composición mineralógica de los suelos y rocas, por F. Gonzáles García y A. M. García Gómez.-- Ensayos con urea en frutales, por V. Remando, L. Jimeno y A. Guerra.-- Estudio mineralógico de la fracción arcilla de los suelos de la Vega de Granada, por J. L. Martín Vivaldi y M. Rodríguez Gallego.-- El hinchamiento de la montmorillonita sódica y del complejo montmorillonita-krilium en electrolitos, por J. R. Rausell Colom y D. M. C. MacEtvan.-- Contribución a la caracterización química de las formas de humus, por Francisco Guitián Ojea.--Clases de fósforo inorgánico cambiable isotópicamente en los suelos calizos. IV. El potencial de calcio y fosfato como índice de la clase de fosfatos presentes en los suelos calizos, por P. de Arambarri .-- Contribución al conocimiento de la ecología y la distribución geográfica del género Eremaeus C. L. Koch., por Franz Mihelcic.-- Notas.-Necrología: Prof. Dr. Cornelis Hendrik Edeiman (1903-1964).-- Sociedad Española de Ciencia del Suelo.-- Centro de Edafología y Biología Aplicada del Cuarto, de Sevilla.-- Misión científica a las Islas Columbretes.-- Clausura del" Curso de Edafología y Biología Vegetal.-- Premios «Alonso de Herrera» del C. S. l. C.-- XXV Aniversario del C. 5. l. C. Patronato «Alonso de Herrera».-- Coloquios sobre a Investigación e Industria.-- Conferencia del Pro f. Odum.-- Patronato Juan de la Cierva.-- III Salón de la Cerámica.—Aclaración.-- Geoquímica del cobalto en los suelos de Andalucía occidental. IV. Formas de cobalto en la arcilla y correlaciones entre el contenido en cobalto y el de hierro arcilla y manganeso, por F. González García y A. M. García Gómez.-- Los suelos de la cuenca media del río Tormes. III. Mineralogía de la fracción arena, por T. Martín Patiño, J. J. Alonso Pascual y F. Lucena Conde .-- Estudio mineralógico de la fracción arcilla de los suelos de la vega de Granada, por J. L. Martín Vivaldi y M. Rodríguez Gallego.-- Pruebas comparativas de alimentación de pollos de carne con raciones isocalóricas e isoproteicas y proporciones variables de cereales y grasa animal. I. Efectos de la sustitución del maíz por cebada, avena, salvado y grasa sobre la velocidad de crecimiento e índice de transformación del pienso, por G. González y F. B. Briones.-- Método polarográfico para la determinación de cobre, níquel, cinc y cobalto. Aplicación a suelos de Fernando Poo, por R. Gallego, F. Burriel y P. Pérez Carretero.- Experiencias iniciales con pavos españoles, por R. Sanz Alias y E. Zorita.-- Oligoelementos en distintos tipos .de suelos del norte de España, por R. Gallego y E. Fernández.-- Acción del ácido clorhídrico sobre los minerales de la arcilla. V. Influencia en su actividad catalítica, mezclados con hidróxido magnésico, para la síntesis del butadieno a partir del alcohol etílico, por T. Fernández Alvarez y A. Hernandez.-- Una contribución al conocimiento de los oribátidos del norte y centro de Europa en España, por Franz Mihelcic.-- Notas.-Necrología: Jacobo Samuel Joffe (1886-1968). Coloquio sobre problemas actuales· de Biología.-- Simposio sobre Química física de procesos en superficies sólidas.-- Simposio de Genética.-- Congresos y reuniones internacionales.-- Becas de intercambio.-- Noticias de los Centros.-- Visita del Dr. F. Zumpt.-- Biblografía. Guitián Ojea, F.: Técnicas de análisis de suelos, por G. Bilbao.-- Geoquímica del cobalto en los suelos de Andalucía occidental. V. Cobalto extraíble por acetato amónico y disoluciones ácidas, por F. González Garcia y A. M. García Gómez.-- Productos obtenidos en la degradación de la materia húmica de suelos calizos andaluces. -- Degradación alcalina de una xerorrendsina. de Sevilla, por Francisco Martín Martínez.-- Productos obtenidos en la degradación de la materia húmica de suelos calizos andaluces. III. Degradación de sustancias modelo, por Francisco Martín Martínez.—Estudio de las arenas del litoral catalán. l. Tramo Barcelona-Mongat, por E. Sáinz-Amor y M. Font-Altaba.-- Evoluciones de los niveles de nitrógeno en órganos de Citrus durante la floración primaveral, por Angel Ortuño Martínez, María Parra Gilabert y Carlos Alcaraz Molina.-- La composición de la savia como índice de fertilidad de los suelos, por L. limeno, C. Cadallia y Mª Ayabe.-- Estudio de deficiencias minerales en el cultivo de lechuga romana, por V. Hernando y Mª P. Sánchez Conde.-- The first steps in the isolation of plant hormones associated with the ; ooting capacity of the woody cuttings, por Ernesto Vieitez, Eliseo Seoane María Dolores V. Gesto, Jesús Méndez, Mª Cruz Mato and Adelina Vázquez.-- Características y variabilidad del balance de agua en la provincia de Sevilla, por José Martín Granda.-- Características y variabilidad del balance de agua en la provincia de Sevilla, por José Martín Granda.-- Estudio de varios insecticidas fosfóricos en el control del Prays Oleellus, F., por Eugenio Laborda Rodríguez y José Mª Fenoliera Gutiérrez.-- United Nations Educational Scientific and Cultural Organization. Programa de Ciencias del Suelo. Memoria de las Actividades de la U. N. E. S. C. O. en Ciencias del Suelo.-- Notas.--XXV .Aniversario de la Fundación del C. S. l. C.-- Profesor De Turk (1887-1963).-- Sociedad Española. de Ciencia del Suelo. 11 Reunión General 1964.-- III Reunión del Grupo Español de Sedimentología.-- Nombramiento de Consejeros Adjuntos del Patronato «Alonso de Herrera».-- Nombramiento de Catedrático de Agricultura y Economía Agraria.-- Congresos, reuniones y becas.-- Visitas de profesores extranjeros.-- Noticias de los Centros.-- Bibliografía.Symposium 1962 .Institut International de la Potasse. Berne (Switzerland), por Pilar Sánchez Conde, 2019-08.- CopyBook.- Libnova.- Biblioteca ICA.

Published
1964

34. Anales de Edafología y Fisiología Vegetal Tomo 15 Número 9-10

Author

Hidalgo, Antonio, Serratosa, J. M., Jubrías, M., Viéitez Cortizo, Ernesto, González, Gaspar, and Zorita, Eduardo

Abstract

Espectros de absorción infrarroja de minerales de la arcilla sometidos a tratamiento térmico, por Antonio Hidalgo, J. M. Serratosa y M. Jubrías.-- Problemas que plantea el estaquillado del castaño, por Ernesto Vieitez. Experimentos de alimentación con ovidos. I, por Gaspar González y Eduardo Zorita.—Información. VI Congreso Internacional de Ciencia del Suelo. V Congreso Internacional de INQUA (1 circular).—Bibliografía. F. Suárez de Castro: Conservación de suelos, 2019-09.- CopyBook.- Libnova.- Biblioteca ICA.

Published
1956

36. Orientation of OH bonds in kaolinite

Author

Serratosa, J. M., Hidalgo, A., Vinas, J. M., Serratosa, J. M., Hidalgo, A., and Vinas, J. M.

Abstract

INFRA-RED spectroscopy has been found to be a useful method in establishing the orientation of OH bonds in layer silicates1. In micas and related forms of crystallization, the orientation of the OH depends on the occupancy of the octahedral positions. In trioctahedral compositions, the OH bonds are normal to the flakes and these groups are free of association in any supplemental bond (absorption band at 3,700 cm.-1). In dioctahedral minerals, the OH are inclined about 20° to the plane of the flakes and directed to the unoccupied octahedra; the absorption band is observed at 3,620 cm.-1, which indicates some degree of secondary association. © 1962 Nature Publishing Group.

Published
1962

37. «Apuntes en Neurologia» (Notes in Neurology): a synthesis of the evidence on common paroxysmal neurological disorders and on neurodegenerative disorders,«Apuntes en Neurologia»: una sintesis de la evidencia en trastornos neurologicos comunes paroxisticos y en trastornos neurodegenerativos

Author

Toledo, M., Carnero-Pardo, C., Carreno-Martinez, M., Escudero-Torrella, J., Gaig, C., Garcia-Ribas, G., Gil-Nagel, A., Grandas, F. J., Kulisevsky, J., Lainez-Andres, J. M., Pareja, J. A., JESÚS PORTA-ETESSAM, Poza-Aldea, J. J., Rodriguez-Oroz, M. C., Serratosa, J. M., and Villanueva, V.

38. Gene symbol: EPM2A

Author

Trujillo-Tiebas, M. J., Gómez-Garré, P., Fenolla-Cortés, M., Lorda-Sánchez, I., Serratosa, J. M., and Carmen Ayuso

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