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985 results on '"Vila, E"'

1. Cognitive impairments in treatment-resistant depression: Results from the French cohort of outpatients (FACE-DR)

Author

Vancappel, A, Dansou, Y, Godin, O, Haffen, E, Yrondi, A, Stéphan, F, Richieri, R, Molière, F, Horn, M, Allauze, E, Genty, JB, Bouvard, A, Dorey, JM, Meyrel, M, Camus, V, Fond, G, Péran, B, Walter, M, Anguill, L, Scotto d'Apollonia, C, Nguon, AS, Fredembach, B, Holtzmann, J, Vilà, E, Petrucci, J, Rey, Etain, B, Carminati, M, Courtet, P, Vaiva, G, Llorca, PM, Leboyer, M, Aouizerate, B, Bennabi, D, and El-Hage, W

Published
2021
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3. Electron degeneracy and intrinsic magnetic properties of epitaxial Nb:SrTiO$_3$ thin-films controlled by defects

Author

Sarantopoulos, A., Ferreiro-Vila, E., Pardo, V., Magen, C., Aguirre, M. H., and Rivadulla, F.

Subjects
Condensed Matter - Materials Science
Abstract

We report thermoelectric power experiments in e-doped thin films of SrTiO$_3$ (STO) which demonstrate that the electronic band degeneracy can be lifted through defect management during growth. We show that even small amounts of cationic vacancies, combined with epitaxial stress, produce a homogeneous tetragonal distortion of the films, resulting in a Kondo-like resistance upturn at low temperature, large anisotropic magnetoresistance, and non-linear Hall effect. Ab-initio calculations confirm a different occupation of each band depending on the degree of tetragonal distortion. The phenomenology reported in this paper for tetragonally distorted e-doped STO thin films, is similarto that observed in LaAlO$_3$/STO interfaces and magnetic STO quantum wells., Comment: 5 pages, 5 figures

Published
2015
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4. Relationship between childhood trauma and level of insight in schizophrenia: A path-analysis in the national FACE-SZ dataset

Author

Andrianarisoa, M.D., Aouizerate, B., Berna, F., Blanc, O., Brunel, L., Bulzacka, E., Capdevielle, D., Chereau-Boudet, I., Chesnoy-Servanin, G., Danion, Jm, D'Amato, T., Deloge, A., Delorme, C., Denizot, H., Dorey, J.M., Dubertret, C., Dubreucq, J., Faget, C., Fluttaz, C., Fond, G., Fonteneau, S., Gabayet, F., Giraud-Baro, E., Hardy-Bayle, M.C., Lacelle, D., Lançon, C., Laouamri, H., Leboyer, M., Le Gloahec, T., Le Strat, Y., Llorca, P.M., Mallet, J., Metairie, E., Misdrahi, D., Offerlin-Meyer, I., Passerieux, C., Peri, P., Pires, S., Portalier, C., Rey, R., Roman, C., Sebilleau, M., Schandrin, A., Schurhoff, F., Tessier, A., Tronche, Am, Urbach, M., Vaillant, F., Vehier, A., Vidailhet, P., Vilà, E., Yazbek, H., Zinetti-Bertschy, A., Pignon, Baptiste, Lajnef, Mohamed, Godin, Ophélia, Geoffray, Marie-Maud, Rey, Romain, Mallet, Jasmina, Dubertret, Caroline, Roux, Paul, Passerieux, Christine, Marulaz, Laurent, Brunel, Lore, Dubreucq, Julien, Leignier, Sylvain, Capdevielle, Delphine, André, Myrtille, Aouizerate, Bruno, Misdrahi, David, Berna, Fabrice, Vidailhet, Pierre, Chereau, Isabelle, Llorca, Pierre-Michel, Fond, Guillaume, Lançon, Christophe, Leboyer, Marion, and Schürhoff, Franck

Published
2019
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5. A multi-dimensional approach to the relationship between insight and aggressiveness in schizophrenia: Findings from the FACE-SZ cohort

Author

Andrianarisoa, M., Aouizerate, B., Bazin, N., Berna, F., Blanc, O., Brunel, L., Bulzacka, E., Capdevielle, D., Chereau-Boudet, I., Chesnoy-Servanin, G., Danion, J.M., D'Amato, T., Deloge, A., Delorme, C., Denizot, H., Dorey, J.M., Dubertret, C., Dubreucq, J., Faget, C., Fluttaz, C., Fond, G., Fonteneau, S., Gabayet, F., Giraud-Baro, E., Lacelle, D., Lançon, C., Laouamri, H., Leboyer, M., Le Gloahec, T., Le Strat, Y., Llorca, P.M., Mallet, J., Metairie, E., Misdrahi, D., Offerlin-Meyer, I., Passerieux, C., Peri, P., Pires, S., Portalier, C., Ramet, L., Rey, L., Roman, C., Schandrin, A., Schürhoff, F., Tessier, A., Tronche, A.M., Urbach, M., Vaillant, F., Vehier, A., Vidailhet, P., Vilà, E., Yazbek, H., Zinetti-Bertschy, A., Norton, J., Raffard, S., Rey, R., Schurhoff, F., and Bonnet, S.

Published
2019
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9. Magnetooptic enhancement and magnetic properties in Fe antidot films with hexagonal symmetry

Author

Papaioannou, E. Th., Kapaklis, V., Patoka, P., Giersig, M., Fumagalli, P., Garcia-Martin, A., Ferreiro-Vila, E., and Ctistis, G.

Subjects
Condensed Matter - Mesoscale and Nanoscale Physics
Abstract

The magnetooptic and magnetic properties of hexagonal arrays of holes in optically thin iron films are presented. We analyze their dependence on the hole radius and compare the results to a continuous iron film of same thickness. We observe a large enhancement of the magnetooptic Kerr rotation with respect to that of the continuous film, at frequecies where surface plasmons excitations are expected. Additional simulations are in very good agreement with the experiment and thus confirm the effect of the surface plasmons on the Kerr rotation. The altering of the magnetic properties by the hole array is also visible in the hysteretic behavior of the sample where a dramatic change is observed., Comment: 5 figures

Published
2009
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10. Psychiatric disability as mediator of the neurocognition-functioning link in schizophrenia spectrum disorders: SEM analysis using the Evaluation of Cognitive Processes involved in Disability in Schizophrenia (ECPDS) scale

Author

Andrianarisoa, M., Aouizerate, B., Bazin, N., Berna, F., Blanc, O., Brunel, L., Bulzacka, E., Capdevielle, D., Chereau-Boudet, I., Chesnoy-Servanin, G., Danion, Jm, D'Amato, T., Deloge, A., Delorme, C., Denizot, H., Dorey, J.M., Dubertret, C., Dubreucq, J., Faget, C., Fluttaz, C., Fond, G., Fonteneau, S., Gabayet, F., Giraud-Baro, E., Lacelle, D., Lançon, C., Laouamri, H., Leboyer, M., Le Gloahec, T., Le Strat, Y., Llorca, Mallet, J., Metairie, E., Misdrahi, D., Offerlin-Meyer, I., Passerieux, C., Peri, P., Pires, S., Portalier, C., Ramet, L., Rey, R., Roman, C., Schandrin, A., Schürhoff, F., Tessier, A., Tronche, Am, Urbach, M., Vaillant, F., Vehier, A., Vidailhet, P., Vilà, E., Yazbek, H., Zinetti-Bertschy, A., Roux, Paul, Urbach, Mathieu, Fonteneau, Sandrine, Berna, Fabrice, Brunel, Lore, Capdevielle, Delphine, Chereau, Isabelle, Dubreucq, Julien, Faget-Agius, Catherine, Fond, Guillaume, Leignier, Sylvain, Perier, Claire-Cécile, Richieri, Raphaëlle, Schneider, Priscille, Schürhoff, Franck, Tronche, Anne-Marie, Yazbek, Hanan, Zinetti-Bertschy, Anna, Passerieux, Christine, and Brunet-Gouet, Eric

Published
2018
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11. Latent toxoplasma infection in real-world schizophrenia: Results from the national FACE-SZ cohort

Author

Andrianarisoa, M., Aouizerate, B., Bazin, N., Berna, F., Blanc, O., Brunel, L., Bulzacka, E., Capdevielle, D., Chereau-Boudet, I., Chesnoy-Servanin, G., Coulon, N., Danion, J.M., D'Amato, T., Deloge, A., Denizot, H., Dorey, J.M., Dubertret, C., Dubreucq, J., Faget, C., Fluttaz, C., Fond, G., Fonteneau, S., Gabayet, F., Giraud-Baro, E., Jarroir, M., Leignier, S., Lacelle, D., Lançon, C., Laouamri, H., Leboyer, M., Le Gloahec, T., Le Strat, Y., Llorca, P.M., Mallet, J., Metairie, E., Misdrahi, D., Offerlin-Meyer, I., Passerieux, C., Peri, P., Pires, S., Portalier, C., Ramet, L., Rey, R., Roman, C., Schandrin, A., Schürhoff, F., Tessier, A., Tronche, A.M., Urbach, M., Vaillant, F., Vehier, A., Vidailhet, P., Vilà, E., Yazbek, H., Zinetti-Bertschy, A., Boyer, L., Godin, O., and Chereau, I.

Published
2018
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12. Influence of Venus and Mars in the cognitive sky of schizophrenia. Results from the first-step national FACE-SZ cohort

Author

Andrianarisoa, M., Aouizerate, B., Berna, F., Blanc, O., Brunel, L., Bulzacka, E., Capdevielle, D., Chereau-Boudet, I., Chesnoy-Servanin, G., Danion, Jm, D'Amato, T., Deloge, A., Delorme, C., Denizot, H., Dorey, J.M., Dubertret, C., Dubreucq, J., Faget, C., Fluttaz, C., Fond, G., Fonteneau, S., Gabayet, F., Giraud-Baro, E., Hardy-Bayle, M.C., Lacelle, D., Lançon, C., Laouamri, H., Leboyer, M., Le Gloahec, T., Le Strat, Y., Llorca, Mallet, J., Metairie, E., Misdrahi, D., Offerlin-Meyer, I., Passerieux, C., Peri, P., Pires, S., Portalier, C., Rey, R., Roman, C., Sebilleau, M., Schandrin, A., Schurhoff, F., Tessier, A., Tronche, Am, Urbach, M., Vaillant, F., Vehier, A., Vidailhet, P., Vilà, E., Yazbek, H., Zinetti-Bertschy, A., Boyer, L., Godin, O., Llorca, P.M., Chereau, I., Lancon, C., Roux, P., and Schürhoff, F.

Published
2018
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13. Basin-wide variations in Amazon forest structure and function are mediated by both soils and climate

Author

Quesada, C. A, Phillips, O. L, Schwarz, M., Czimczik, C. I, Baker, T. R, Patiño, S., Fyllas, N. M, Hodnett, M. G, Herrera, R., Almeida, S., Alvarez Dávila, E., Arneth, A., Arroyo, L., Chao, K. J, Dezzeo, N., Erwin, T., di Fiore, A., Higuchi, N., Honorio Coronado, E., Jimenez, E. M, Killeen, T., Lezama, A. T, Lloyd, G., López-González, G., Luizão, F. J, Malhi, Y., Monteagudo, A., Neill, D. A, Núñez Vargas, P., Paiva, R., Peacock, J., Peñuela, M. C, Peña Cruz, A., Pitman, N., Priante Filho, N., Prieto, A., Ramírez, H., Rudas, A., Salomão, R., Santos, A. J. B, Schmerler, J., Silva, N., Silveira, M., Vásquez, R., Vieira, I., Terborgh, J., and Lloyd, J.

Subjects
tropical rain-forest, plant-growth responses, ecological field experiments, net primary productivity, wood specific-gravity, branch xylem density, stem water storage, long term plots, geographical ecology, use efficiency
Abstract

Forest structure and dynamics vary across the Amazon Basin in an east-west gradient coincident with variations in soil fertility and geology. This has resulted in the hypothesis that soil fertility may play an important role in explaining Basin-wide variations in forest biomass, growth and stem turnover rates. Soil samples were collected in a total of 59 different forest plots across the Amazon Basin and analysed for exchangeable cations, carbon, nitrogen and pH, with several phosphorus fractions of likely different plant availability also quantified. Physical properties were additionally examined and an index of soil physical quality developed. Bivariate relationships of soil and climatic properties with above-ground wood productivity, stand-level tree turnover rates, above-ground wood biomass and wood density were first examined with multivariate regression models then applied. Both forms of analysis were undertaken with and without considerations regarding the underlying spatial structure of the dataset. Despite the presence of autocorrelated spatial structures complicating many analyses, forest structure and dynamics were found to be strongly and quantitatively related to edaphic as well as climatic conditions. Basin-wide differences in stand-level turnover rates are mostly influenced by soil physical properties with variations in rates of coarse wood production mostly related to soil phosphorus status. Total soil P was a better predictor of wood production rates than any of the fractionated organic- or inorganic-P pools. This suggests that it is not only the immediately available P forms, but probably the entire soil phosphorus pool that is interacting with forest growth on longer timescales. A role for soil potassium in modulating Amazon forest dynamics through its effects on stand-level wood density was also detected. Taking this into account, otherwise enigmatic variations in stand-level biomass across the Basin were then accounted for through the interacting effects of soil physical and chemical properties with climate. A hypothesis of self-maintaining forest dynamic feedback mechanisms initiated by edaphic conditions is proposed. It is further suggested that this is a major factor determining endogenous disturbance levels, species composition, and forest productivity across the Amazon Basin.

Published
2012

14. Predictors of rapid high weight gain in schizophrenia: Longitudinal analysis of the French FACE-SZ cohort

Author

Andrianarisoa, M., Aouizerate, B., Berna, F., Blanc, O., Brunel, L., Bulzacka, E., Capdevielle, D., Chereau-Boudet, I., Chesnoy-Servanin, G., Danion, J.M., D'Amato, T., Deloge, A., Delorme, C., Denizot, H., Dorey, J.M., Dubertret, C., Dubreucq, J., Faget, C., Fluttaz, C., Fond, G., Fonteneau, S., Gabayet, F., Giraud-Baro, E., Hardy-Bayle, M.C., Lacelle, D., Lançon, C., Laouamri, H., Leboyer, M., Le Gloahec, T., Le Strat, Y., Llorca, P.M., Mallet, J., Metairie, E., Misdrahi, D., Offerlin-Meyer, I., Passerieux, C., Peri, P., Pires, S., Portalier, C., Rey, R., Roman, C., Sebilleau, M., Schandrin, A., Schürhoff, F., Tessier, A., Tronche, A.M., Urbach, M., Vaillant, F., Vehier, A., Vidailhet, P., Vilain, J., Vilà, E., Yazbek, H., Zinetti-Bertschy, A., Godin, O., Boyer, L., Richieri, R., and Costagliola, D.

Published
2017
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15. Molluscs as Personal Adornment in a Gravettian Context from Cueva de Ardales (Málaga, Spain)

Author

Cantillo-Duarte, J. J., primary, Weniger, G.-C., additional, Cantalejo, P., additional, Domínguez-Bella, S., additional, Molina-Piernas, E., additional, Otto, T., additional, Rotgänger, M., additional, Kehl, M., additional, Espejo, M. M., additional, Fernández-Sánchez, D., additional, Tafelmaier, Y., additional, Vijande-Vila, E., additional, Becerra-Martín, S., additional, Gómez-Sánchez, L., additional, and Ramos-Muñoz, J., additional

Published
2023
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16. Cigarette smoking and schizophrenia: a specific clinical and therapeutic profile? Results from the FACE-Schizophrenia cohort

Author

Andrianarisoa, M., Aouizerate, B., Bazin, N., Berna, F., Blanc, O., Brunel, L., Bulzacka, E., Capdevielle, D., Chereau-Boudet, I., Chesnoy-Servanin, G., Danion, J.M., D'Amato, T., Deloge, A., Delorme, C., Denizot, H., Dorey, J.M., Dubertret, C., Dubreucq, J., Faget, C., Fluttaz, C., Fond, G., Fonteneau, S., Gabayet, F., Giraud-Baro, E., Lacelle, D., Lançon, C., Laouamri, H., Leboyer, M., Le Gloahec, T., Le Strat, Y., Llorca, P.M., Mallet, J., Metairie, E., Misdrahi, D., Offerlin-Meyer, I., Passerieux, C., Peri, P., Pires, S., Portalier, C., Ramet, L., Rey, R., Roman, C., Schandrin, A., Schürhoff, F., Tessier, A., Tronche, A.M., Urbach, M., Vaillant, F., Vehier, A., Vidailhet, P., Vilà, E., Yazbek, H., Zinetti-Bertschy, A., Mazer, N., Chereau, I., and Roux, P.

Published
2017
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17. Childhood trauma, depression and negative symptoms are independently associated with impaired quality of life in schizophrenia. Results from the national FACE-SZ cohort

Author

Andrianarisoa, M., Aouizerate, B., Berna, F., Blanc, O., Brunel, L., Bulzacka, E., Capdevielle, D., Chereau-Boudet, I., Chesnoy-Servanin, G., Danion, J.M., D'Amato, T., Deloge, A., Delorme, C., Denizot, H., Dorey, J.M., Dubertret, C., Dubreucq, J., Faget, C., Fluttaz, C., Fond, G., Fonteneau, S., Gabayet, F., Giraud-Baro, E., Hardy-Bayle, M.C., Lacelle, D., Lançon, C., Laouamri, H., Leboyer, M., Le Gloahec, T., Le Strat, Y., Llorca, P.M., Mallet, J., Metairie, E., Misdrahi, D., Offerlin-Meyer, I., Passerieux, C., Peri, P., Pires, S., Portalier, C., Rey, R., Roman, C., Sebilleau, M., Schandrin, A., Schurhoff, F., Tessier, A., Tronche, A.M., Urbach, M., Vaillant, F., Vehier, A., Vidailhet, P., Vilà, E., Yazbek, H., Zinetti-Bertschy, A., Boyer, L., Godin, O., Richieri, R., and Schürhoff, F.

Published
2017
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21. Gas Sensing Characterization by Magneto-optic Surface Plasmon Resonance Technique

Author

Manera, M. G., Ferreiro-Vila, E., Rella, R., Casino, F., Martucci, C., Giancane, G., Valli, L., García-Martín, A., Armelles, G., García-Martín, J. M., Cebollada, A., Baldini, Francesco, editor, D’Amico, Arnaldo, editor, Di Natale, Corrado, editor, Siciliano, Pietro, editor, Seeber, Renato, editor, De Stefano, Luca, editor, Bizzarri, Ranieri, editor, and Andò, Bruno, editor

Published
2014
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22. Akathisia: prevalence and risk factors in a community-dwelling sample of patients with schizophrenia. Results from the FACE-SZ dataset

Author

Aouizerate, B., Berna, F., Blanc, O., Brunel, L., Bulzacka, E., Capdevielle, D., Chereau-Boudet, I., Chesnoy-Servanin, G., Danion, J.M., D'Amato, T., Deloge, A., Delorme, C., Denizot, H., De Pradier, M., Dorey, J.M., Dubertret, C., Dubreucq, J., Faget, C., Fluttaz, C., Fond, G., Fonteneau, S., Gabayet, F., Giraud-Baro, E., Hardy-Bayle, M.C., Lacelle, D., Lançon, C., Laouamri, H., Leboyer, M., Le Gloahec, T., Le Strat, Y., Llorca, P.M., Mallet, J., Metairie, E., Misdrahi, D., Offerlin-Meyer, I., Passerieux, C., Peri, P., Pires, S., Portalier, C., Rey, R., Roman, C., Sebilleau, M., Schandrin, A., Schurhoff, F., Tessier, A., Tronche, A.M., Urbach, M., Vaillant, F., Vehier, A., Vidailhet, P., Vilain, J., Vilà, E., Yazbek, H., Zinetti-Bertschy, A., Boyer, L., Chereau, I., and Lancon, C.

Published
2015
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23. Metabolic syndrome, abdominal obesity and hyperuricemia in schizophrenia: Results from the FACE-SZ cohort

Author

Aouizerate, B., Berna, F., Blanc, O., Brunel, L., Bulzacka, E., Capdevielle, D., Chereau-Boudet, I., Chesnoy-Servanin, G., Danion, J.M., D'Amato, T., Deloge, A., Delorme, C., Denizot, H., Depradier, M., Dorey, J.M., Dubertret, C., Dubreucq, J., Faget, C., Fluttaz, C., Fond, G., Fonteneau, S., Gabayet, F., Giraud-Baro, E., Hardy-Bayle, M.C., Lacelle, D., Lançon, C., Laouamri, H., Leboyer, M., Le Gloahec, T., Le Strat, Y., Llorca, P.M., Metairie, E., Misdrahi, D., Offerlin-Meyer, I., Passerieux, C., Peri, P., Pires, S., Portalier, C., Rey, R., Roman, C., Sebilleau, M., Schandrin, A., Schürhoff, F., Tessier, A., Tronche, A.M., Urbach, M., Vaillant, F., Vehier, A., Vidailhet, P., Vilà, E., Yazbek, H., Zinetti-Bertschy, A., Godin, O., Gaman, A., Chereau, I., Richieri, R., Vidalhet, P., and Girerd, N.

Published
2015
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31. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Author

Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, Pietro, Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. -S., Vitobello, A., Racine, C., Mancardi, M. M., Kiss, C., Guerin, A., Wu, W., Vila, E. G., Mak, B. C., Martinez-Agosto, J. A., Gorin, M. B., Duz, B., Bayram, Y., Carvalho, C. M. B., Vengoechea, J. E., Chitayat, D., Tan, T. Y., Callewaert, B., Kruse, B., Bird, L. M., Faivre, L., Zollino, Marcella, Biskup, S., Striano, P., Nigro, V., Severino, M., Capra, V., Costain, G., Nagata, K. -I., Brown, G., Butte, M. J., Dell'Angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Martin, M. G., Mcgee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Sinsheimer, J. S., Wan, J., Wang, L. -K., Perry, K. W., Brunetti-Pierri, N., Casari, G., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Peron, A., Pantaleoni, C., Castello, R., D'Arrigo, S., Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia M B, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, Nagata, Koh Ichi, and Nagata, Koh-Ichi

Subjects
brain development, Settore MED/03 - GENETICA MEDICA, Medical and Health Sciences, Telethon Undiagnosed Diseases Program, Mice, Neurodevelopmental Disorder, Medicine and Health Sciences, Animals, Humans, 2.1 Biological and endogenous factors, Aetiology, Neurons, Pediatric, neuronal migration, Neurology & Neurosurgery, Animal, axon guidance, Psychology and Cognitive Sciences, p21-Activated Kinase, Neurosciences, Biology and Life Sciences, Undiagnosed Diseases Network, Neuron, rac GTP-Binding Proteins, Brain Disorders, RAC3, Phenotype, p21-Activated Kinases, Neurodevelopmental Disorders, small GTPase, Neurological, Congenital Structural Anomalies, Neurology (clinical), Human
Abstract

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. We investigated a cohort of 10 unrelated participants presenting with global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures and musculoskeletal abnormalities. MRI of brain revealed a complex pattern of variable brain malformations, including callosal abnormalities, white matter thinning, grey matter heterotopia, polymicrogyria/dysgyria, brainstem anomalies and cerebellar dysplasia. These patients harboured eight distinct de novo RAC3 variants, including six novel variants (NM_005052.3): c.34G > C p.G12R, c.179G > A p.G60D, c.186_188delGGA p.E62del, c.187G > A p.D63N, c.191A > G p.Y64C and c.348G > C p.K116N. We then examined the pathophysiological significance of these novel and previously reported pathogenic variants p.P29L, p.P34R, p.A59G, p.Q61L and p.E62K. In vitro analyses revealed that all tested RAC3 variants were biochemically and biologically active to variable extent, and exhibited a spectrum of different affinities to downstream effectors including p21-activated kinase 1. We then focused on the four variants p.Q61L, p.E62del, p.D63N and p.Y64C in the Switch II region, which is essential for the biochemical activity of small GTPases and also a variation hot spot common to other Rho family genes, RAC1 and CDC42. Acute expression of the four variants in embryonic mouse brain using in utero electroporation caused defects in cortical neuron morphology and migration ending up with cluster formation during corticogenesis. Notably, defective migration by p.E62del, p.D63N and p.Y64C were rescued by a dominant negative version of p21-activated kinase 1. Our results indicate that RAC3 variants result in morphological and functional defects in cortical neurons during brain development through variant-specific mechanisms, eventually leading to heterogeneous neurodevelopmental phenotypes. Scala et al. identify six de novo variants in RAC3, which encodes a small GTPase, in 10 unrelated subjects with neurodevelopmental phenotypes. In vivo and in vitro analyses in mice reveal that RAC3 variants cause morpho-functional defects in cortical neurons through variant-specific mechanisms, disrupting corticogenesis.

Published
2022

32. Clinical management guidelines for subarachnoid haemorrhage. Diagnosis and treatment

Author

Vivancos, J., Gilo, F., Frutos, R., Maestre, J., García-Pastor, A., Quintana, F., Roda, J.M., Ximénez-Carrillo, A., Díez Tejedor, E., Fuentes, B., Alonso de Leciñana, M., Álvarez-Sabin, J., Arenillas, J., Calleja, S., Casado, I., Castellanos, M., Castillo, J., Dávalos, A., Díaz-Otero, F., Egido, J.A., Fernández, J.C., Freijo, M., Gállego, J., Gil-Núñez, A., Irimia, P., Lago, A., Masjuan, J., Martí-Fábregas, J., Martínez-Sánchez, P., Martínez-Vila, E., Molina, C., Morales, A., Nombela, F., Purroy, F., Ribó, M., Rodríguez-Yañez, M., Roquer, J., Rubio, F., Segura, T., Serena, J., Simal, P., and Tejada, J.

Published
2014
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33. Guía de actuación clínica en la hemorragia subaracnoidea. Sistemática diagnóstica y tratamiento

Author

Vivancos, J., Gilo, F., Frutos, R., Maestre, J., García-Pastor, A., Quintana, F., Roda, J.M., Ximénez-Carrillo, A., Díez Tejedor, E., Fuentes, B., Alonso de Leciñana, M., Álvarez-Sabin, J., Arenillas, J., Calleja, S., Casado, I., Castellanos, M., Castillo, J., Dávalos, A., Díaz-Otero, F., Egido, J.A., Fernández, J.C., Freijo, M., Gállego, J., Gil-Núñez, A., Irimia, P., Lago, A., Masjuan, J., Martí-Fábregas, J., Martínez-Sánchez, P., Martínez-Vila, E., Molina, C., Morales, A., Nombela, F., Purroy, F., Ribó, M., Rodríguez-Yañez, M., Roquer, J., Rubio, F., Segura, T., Serena, J., Simal, P., and Tejada, J.

Published
2014
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34. Guía para el tratamiento preventivo del ictus isquémico y AIT (II). Recomendaciones según subtipo etiológico

Author

Fuentes, B., Gállego, J., Gil-Nuñez, A., Morales, A., Purroy, F., Roquer, J., Segura, T., Tejada, J., Lago, A., Díez-Tejedor, E., Alonso de Leciñana, M., Álvarez-Sabin, J., Arenillas, J., Calleja, S., Casado, I., Castellanos, M., Castillo, J., Dávalos, A., Díaz-Otero, F., Egido, J.A., López-Fernández, J.C., Freijo, M., García Pastor, A., Gilo, F., Irimia, P., Maestre, J., Masjuan, J., Martí-Fábregas, J., Martínez-Sánchez, P., Martínez-Vila, E., Molina, C., Nombela, F., Ribó, M., Rodríguez-Yañez, M., Rubio, F., Serena, J., Simal, P., and Vivancos, J.

Published
2014
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35. Guidelines for the treatment of acute ischaemic stroke

Author

Alonso de Leciñana, M., Egido, J.A., Casado, I., Ribó, M., Dávalos, A., Masjuan, J., Caniego, J.L., Martínez Vila, E., Díez Tejedor, E., Fuentes (Secretaría), B., Álvarez-Sabin, J., Arenillas, J., Calleja, S., Castellanos, M., Castillo, J., Díaz-Otero, F., López-Fernández, J.C., Freijo, M., Gállego, J., García-Pastor, A., Gil-Núñez, A., Gilo, F., Irimia, P., Lago, A., Maestre, J., Martí-Fábregas, J., Martínez-Sánchez, P., Molina, C., Morales, A., Nombela, F., Purroy, F., Rodríguez-Yañez, M., Roquer, J., Rubio, F., Segura, T., Serena, J., Simal, P., Tejada, J., and Vivancos, J.

Published
2014
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36. Guía para el tratamiento del infarto cerebral agudo

Author

Alonso de Leciñana, M., Egido, J.A., Casado, I., Ribó, M., Dávalos, A., Masjuan, J., Caniego, J.L., Martínez Vila, E., Díez Tejedor, E., Fuentes (Secretaría), B., Álvarez-Sabin, J., Arenillas, J., Calleja, S., Castellanos, M., Castillo, J., Díaz-Otero, F., López-Fernández, J.C., Freijo, M., Gállego, J., García-Pastor, A., Gil-Núñez, A., Gilo, F., Irimia, P., Lago, A., Maestre, J., Martí-Fábregas, J., Martínez-Sánchez, P., Molina, C., Morales, A., Nombela, F., Purroy, F., Rodríguez-Yañez, M., Roquer, J., Rubio, F., Segura, T., Serena, J., Simal, P., Tejada, J., and Vivancos, J.

Published
2014
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39. Can there be a common, risk-based framework for decisions around live insect trade?

Author

Quinlan, M, Mumford, J, Benedict, M, Wäckers, F, Oliva, C, Wohlfarter, M, Smagghe, G, Vila, E, Klapwijk, J, Michaelakis, A, Collins, C, Prudhomme, J, Torres, G, Diaz, F, Saul-Gershenz, L, Cook, K, Verghese, A, Sreerama Kumar, P, Imperial College London, Biobest Groupe NV, Centre Technique Interprofessionnel des Fruits et Légumes (CTIFL), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud])-Université de Montpellier (UM), World Organisation for Animal Health (WOAH), University of California [Davis] (UC Davis), and University of California (UC)

Subjects
Courier services, Risk analysis, 0707 Veterinary Sciences, Trade, JEL: F - International Economics/F.F1 - Trade/F.F1.F13 - Trade Policy • International Trade Organizations, Intergovernmental treaties and organisations, Veterinary Sciences, [SHS.ECO]Humanities and Social Sciences/Economics and Finance, Insect, [SDE.ES]Environmental Sciences/Environmental and Society
Abstract

A network of scientists involved in shipment of live insects has met and generated a series of articles on issues related to live insect transport. The network is diverse, covering large-scale commercial interests, government operated areawide control programmes, biomedical research and many smaller applications, in research, education and private uses. Many insect species have a record of safe transport, pose minimal risks and are shipped frequently between countries. The routine shipments of the most frequently used insect model organism for biomedical research, Drosophila melanogaster, is an example. Successful large-scale shipments from commercial biocontrol and pollinator suppliers also demonstrate precedents for low-risk shipment categories, delivered in large volumes to high quality standards. Decision makers need access to more information (publications or official papers) that details actual risks from the insects themselves or their possible contaminants, and should propose proportionate levels of management. There may be harm to source environments when insects are collected directly from the wild, and there may be harm https://doi.org/10.20506/rst.41.1.3319 Scientific and Technical Review 41 (1) 2022 220 to receiving environments. Several risk frameworks include insects and various international coordinating bodies, with experience of guidance on relevant risks, exist. All stakeholders would benefit from an integrated overview of guidance for insect shipping, with reference to types of risk and categories of magnitude, without trying for a single approach requiring universal agreement. Proposals for managing uncertainty and lack of data for smaller or infrequent shipments, for example, must not disrupt trade in large volumes of live insects, which are already supporting strategic objectives in several sectors.

Published
2022

43. Clinical practice guidelines in intracerebral haemorrhage

Author

Rodríguez-Yáñez, M., Castellanos, M., Freijo, M.M., López Fernández, J.C., Martí-Fàbregas, J., Nombela, F., Simal, P., Castillo, J., Díez-Tejedor, E., Fuentes, B., Alonso de Leciñana, M., Álvarez-Sabin, J., Arenillas, J., Calleja, S., Casado, I., Dávalos, A., Díaz-Otero, F., Egido, J.A., Gállego, J., García Pastor, A., Gil-Núñez, A., Gilo, F., Irimia, P., Lago, A., Maestre, J., Masjuan, J., Martínez-Sánchez, P., Martínez-Vila, E., Molina, C., Morales, A., Purroy, F., Ribó, M., Roquer, J., Rubio, F., Segura, T., Serena, J., Tejada, J., and Vivancos, J.

Published
2013
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45. Guías de actuación clínica en la hemorragia intracerebral

Author

Rodríguez-Yáñez, M., Castellanos, M., Freijo, M.M., López Fernández, J.C., Martí-Fàbregas, J., Nombela, F., Simal, P., Castillo, J., Díez-Tejedor, E., Fuentes, B., Alonso de Leciñana, M., Álvarez-Sabin, J., Arenillas, J., Calleja, S., Casado, I., Dávalos, A., Díaz-Otero, F., Egido, J.A., Gállego, J., García Pastor, A., Gil-Núñez, A., Gilo, F., Irimia, P., Lago, A., Maestre, J., Masjuan, J., Martínez-Sánchez, P., Martínez-Vila, E., Molina, C., Morales, A., Purroy, F., Ribó, M., Roquer, J., Rubio, F., Segura, T., Serena, J., Tejada, J., and Vivancos, J.

Published
2013
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46. Guidelines for the preventive treatment of ischaemic stroke and TIA (I). Update on risk factors and life style

Author

Fuentes, B., Gállego, J., Gil-Nuñez, A., Morales, A., Purroy, F., Roquer, J., Segura, T., Tejada, J., Lago, A., Díez-Tejedor, E., Alonso de Leciñana, M., Álvarez-Sabin, J., Arenillas, J., Calleja, S., Casado, I., Castellanos, M., Castillo, J., Dávalos, A., Díaz-Otero, F., Egido, J.A., López-Fernández, J.C., Freijo, M., García Pastor, A., Gilo, F., Irimia, P., Maestre, J., Masjuan, J., Martí-Fábregas, J., Martínez-Sánchez, P., Martínez-Vila, E., Molina, C., Nombela, F., Ribó, M., Rodríguez-Yañez, M., Rubio, F., Serena, J., Simal, P., and Vivancos, J.

Published
2012
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47. Guía para el tratamiento preventivo del ictus isquémico y AIT (I). Actuación sobre los factores de riesgo y estilo de vida

Author

Fuentes, B., Gállego, J., Gil-Nuñez, A., Morales, A., Purroy, F., Roquer, J., Segura, T., Tejada, J., Lago, A., Díez-Tejedor, E., Alonso de Leciñana, M., Álvarez-Sabin, J., Arenillas, J., Calleja, S., Casado, I., Castellanos, M., Castillo, J., Dávalos, A., Díaz-Otero, F., Egido, J.A., López-Fernández, J.C., Freijo, M., García Pastor, A., Gilo, F., Irimia, P., Maestre, J., Masjuan, J., Martí-Fábregas, J., Martínez-Sánchez, P., Martínez-Vila, E., Molina, C., Nombela, F., Ribó, M., Rodríguez-Yañez, M., Rubio, F., Serena, J., Simal, P., and Vivancos, J.

Published
2012
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