1,432 results on '"Fontaine B"'
Search Results
2. Simultaneous determination of 8 beta-lactams and linezolid by an ultra-performance liquid chromatography method with UV detection and cross-validation with a commercial immunoassay for the quantification of linezolid
- Author
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Fage, D., Deprez, G., Fontaine, B., Wolff, F., and Cotton, F.
- Published
- 2021
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3. Pulmonary vascular resistance in patients with neuromuscular disorders
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Fayssoil, A., primary, Béhin, A., additional, Wahbi, K., additional, Lofaso, F., additional, Prigent, H., additional, Mansencal, N., additional, Becane, H.-M., additional, Laforet, P., additional, Orlikowski, D., additional, Fontaine, B., additional, and Stojkovic, T., additional
- Published
- 2024
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4. Variability and predictability of west African droughts: A review on the role of sea surface temperature anomalies
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Rodríguez-Fonseca, B, Mohino, E, Mechoso, CR, Caminade, C, Biasutti, M, Gaetani, M, Garcia-Serrano, J, Vizy, EK, Cook, K, Xue, Y, Polo, I, Losada, T, Druyan, L, Fontaine, B, Bader, J, Doblas-Reyes, FJ, Goddard, L, Janicot, S, Arribas, A, Lau, W, Colman, A, Vellinga, M, Rowell, DP, Kucharski, F, and Voldoire, A
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Meteorology & Atmospheric Sciences ,Atmospheric Sciences ,Oceanography ,Geomatic Engineering - Abstract
The Sahel experienced a severe drought during the 1970s and 1980s after wet periods in the 1950s and 1960s. Although rainfall partially recovered since the 1990s, the drought had devastating impacts on society. Most studies agree that this dry period resulted primarily from remote effects of sea surface temperature (SST) anomalies amplified by local land surface-atmosphere interactions. This paper reviews advances made during the last decade to better understand the impact of global SST variability on West African rainfall at interannual to decadal time scales. At interannual time scales, a warming of the equatorial Atlantic and Pacific/Indian Oceans results in rainfall reduction over the Sahel, and positive SST anomalies over the Mediterranean Sea tend to be associated with increased rainfall. At decadal time scales, warming over the tropics leads to drought over the Sahel, whereas warming over the North Atlantic promotes increased rainfall. Prediction systems have evolved from seasonal to decadal forecasting. The agreement among future projections has improved from CMIP3 to CMIP5, with a general tendency for slightly wetter conditions over the central part of the Sahel, drier conditions over the western part, and a delay in the monsoon onset. The role of the Indian Ocean, the stationarity of teleconnections, the determination of the leader ocean basin in driving decadal variability, the anthropogenic role, the reduction of the model rainfall spread, and the improvement of some model components are among the most important remaining questions that continue to be the focus of current international projects.
- Published
- 2015
5. Association of cerebrospinal fluid α-synuclein with total and phospho-tau181 protein concentrations and brain amyloid load in cognitively normal subjective memory complainers stratified by Alzheimer's disease biomarkers
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Audrain, C., Auffret, A., Bakardjian, H., Baldacci, F., Batrancourt, B., Benakki, I., Benali, H., Bertin, H., Bertrand, A., Boukadida, L., Cacciamani, F., Causse, V., Cavedo, E., Cherif Touil, S., Chiesa, P.A., Colliot, O., Dalla Barba, G., Depaulis, M., Dos Santos, A., Dubois, B., Dubois, M., Epelbaum, S., Fontaine, B., Francisque, H., Gagliardi, G., Genin, A., Genthon, R., Glasman, P., Gombert, F., Habert, M.O., Hampel, H., Hewa, H., Houot, M., Jungalee, N., Kas, A., Kilani, M., La Corte, V., Le Roy, F., Lehericy, S., Letondor, C., Levy, M., Lista, S., Lowrey, M., Ly, J., Makiese, O., Masetti, I., Mendes, A., Metzinger, C., Michon, A., Mochel, F., Nait Arab, R., Nyasse, F., Perrin, C., Poirier, F., Poisson, C., Potier, M.C., Ratovohery, S., Revillon, M., Rojkova, K., Santos-Andrade, K., Schindler, R., Servera, M.C., Seux, L., Simon, V., Skovronsky, D., Thiebaut, M., Uspenskaya, O., Vlaincu, M., Aguilar, L.F., Babiloni, C., Benda, N., Black, K.L., Bokde, A.L.W., Bonuccelli, U., Broich, K., Bun, R.S., Cacciola, F., Castrillo, J., Ceravolo, R., Coman, C.M., Corvol, J.C., Cuello, A.C., Cummings, J.L., Depypere, H., Duggento, A., Durrleman, S., Escott-Price, V., Federoff, H., Ferretti, M.T., Fiandaca, M., Frank, R.A., Garaci, F., George, N., Giorgi, F.S., Graziani, M., Haberkamp, M., Herholz, K., Karran, E., Kim, S.H., Koronyo, Y., Koronyo-Hamaoui, M., Lamari, F., Langevin, T., Lehéricy, S., Lorenceau, J., Mapstone, M., Neri, C., Nisticò, R., Nyasse-Messene, F., O'Bryant, S.E., Perry, G., Ritchie, C., Rossi, S., Santarnecchi, E., Schneider, L.S., Sporns, O., Toschi, N., Verdooner, S.R., Vergallo, A., Villain, N., Welikovitch, L., Woodcock, J., Younesi, E., Vergallo, Andrea, Bun, René-Sosata, Toschi, Nicola, Baldacci, Filippo, Zetterberg, Henrik, Blennow, Kaj, Cavedo, Enrica, Lamari, Foudil, Habert, Marie-Odile, Dubois, Bruno, Floris, Roberto, Garaci, Francesco, Lista, Simone, and Hampel, Harald
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- 2018
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6. 14 Synthèse
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Abadia, G., primary, Basile, S., additional, Bastide, J.C., additional, Bayeux-Dunglas, M.C., additional, Bayon, V., additional, Brun, A., additional, Beausoleil, C., additional, Campo, P., additional, Caron, V., additional, Causse, E., additional, Certin, J.F., additional, Claris, O., additional, Croteau, A., additional, Ducreux, N., additional, Dumortier, M., additional, Falcy, M., additional, Faupin, F., additional, Florentin, A., additional, Fontaine, B., additional, Hermouet, C., additional, Ganem, Y., additional, Gauron, C., additional, Lafon, D., additional, Lanfranconi, I., additional, Le Bâcle, C., additional, Léger, D., additional, Maladry, P., additional, Meyer, J.P., additional, Mousel, M.L., additional, Petitprez, K., additional, Puech, F., additional, Radauceanu, A., additional, Rinaldo, M., additional, Saillenfait, A-M., additional, Sari-Minodier, I., additional, Saurel-Cubizolles, M.J., additional, and Soudry, C., additional
- Published
- 2020
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7. 15 Recommandations
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Abadia, G., primary, Basile, S., additional, Bastide, J.C., additional, Bayeux-Dunglas, M.C., additional, Bayon, V., additional, Brun, A., additional, Beausoleil, C., additional, Campo, P., additional, Caron, V., additional, Causse, E., additional, Certin, J.F., additional, Claris, O., additional, Croteau, A., additional, Ducreux, N., additional, Dumortier, M., additional, Falcy, M., additional, Faupin, F., additional, Florentin, A., additional, Fontaine, B., additional, Hermouet, C., additional, Ganem, Y., additional, Gauron, C., additional, Lafon, D., additional, Lanfranconi, I., additional, Le Bâcle, C., additional, Léger, D., additional, Maladry, P., additional, Meyer, J.P., additional, Mousel, M.L., additional, Petitprez, K., additional, Puech, F., additional, Radauceanu, A., additional, Rinaldo, M., additional, Saillenfait, A.M., additional, Sari-Minodier, I., additional, Saurel-Cubizolles, M.J., additional, and Soudry, C., additional
- Published
- 2020
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8. Effect of Alzheimer's disease risk and protective factors on cognitive trajectories in subjective memory complainers: An INSIGHT-preAD study
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Audrain, C., Auffret, A., Bakardjian, H., Baldacci, F., Batrancourt, B., Benakki, I., Benali, H., Bertin, H., Bertrand, A., Boukadida, L., Cacciamani, F., Causse, V., Cavedo, E., Cherif Touil, S., Chiesa, P.A., Colliot, O., Dalla Barba, G., Depaulis, M., Dos Santos, A., Dubois, B., Dubois, M., Epelbaum, S., Fontaine, B., Francisque, H., Gagliardi, G., Genin, A., Genthon, R., Glasman, P., Gombert, F., Habert, M.O., Hampel, H., Hewa, H., Houot, M., Jungalee, N., Kas, A., Kilani, M., La Corte, V., Le Roy, F., Lehericy, S., Letondor, C., Levy, M., Lista, S., Lowrey, M., Ly, J., Makiese, O., Masetti, I., Mendes, A., Metzinger, C., Michon, A., Mochel, F., Nait Arab, R., Nyasse, F., Perrin, C., Poirier, F., Poisson, C., Potier, M.C., Ratovohery, S., Revillon, M., Rojkova, K., Santos-Andrade, K., Schindler, R., Servera, M.C., Seux, L., Simon, V., Skovronsky, D., Thiebaut, M., Uspenskaya, O., Vlaincu, M., Teipel, Stefan J., Cavedo, Enrica, Lista, Simone, Habert, Marie-Odile, Potier, Marie-Claude, Grothe, Michel J., Epelbaum, Stephane, Sambati, Luisa, Gagliardi, Geoffroy, Toschi, Nicola, Greicius, Michael D., Dubois, Bruno, and Hampel, Harald
- Published
- 2018
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9. Spatial analysis of unprotected transients in heterogeneous sodium fast reactors
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Laureau, A., Lederer, Y., Krakovich, A., Buiron, L., and Fontaine, B.
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- 2018
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10. Quasi-decadal signals of Sahel rainfall and West African monsoon since the mid-twentieth century
- Author
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Dieppois, B, Diedhiou, A, Durand, A, Fournier, M, Massei, N, Sebag, D, Xue, Y, and Fontaine, B
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West African Monsoon ,Sahel rainfall ,Sea-Surface Temperature ,Quasi-decadal scale ,zonal contrast ,Atmospheric Sciences ,Physical Geography and Environmental Geoscience - Abstract
Sahel rainfall shows pronounced decadal variability and a negative trend between wet conditions in the 1950s-1960s and dry ones in the 1970s-1980s. Using continuous wavelet transform, the quasi-decadal variability (QDV) of rainfall reveals zonal contrasts. The highest QDV is identified in the 1950s-1960s over western Sahel and in the 1970s-1980s over eastern Sahel. The quasi-decadal atmospheric anomalies have been reconstructed using Fourier transform for the 1950s-1960s and the 1970s-1980s, respectively, and assessed by the composite analysis of the QDV phases for the periods before and after 1968. Over western Sahel, the rainfall QDV in the 1950s-1960s is related to the North Atlantic sea surface temperature (SST) variability, as highlighted by the wavelet coherence. A southward shift trend of the Intertropical Convergence Zone (ITCZ) is identified through an enhancement of northeasterly fluxes and moisture convergence over the western part of West Africa. A decrease (increase) of southern (northern) subtropical sinking motions seems to be involved. In the 1970s-1980s, a strengthening of cross-equatorial Atlantic SST and pressure gradients is related to an increase of monsoon flow from lower troposphere up to the midtroposphere and to the northward shift of the ITCZ, mainly over eastern Sahel. The Pacific SST influence is also identified, which involves changes in the global zonal circulation. Key Points Zonal contrasts are detected in Sahel rainfall at quasi-decadal scale Quasi-decadal signals of the WAM are identified in both wet and dry periods Modifications of SST forcing are observed between wet and dry periods ©2013. American Geophysical Union. All Rights Reserved.
- Published
- 2013
11. Genetic burden in multiple sclerosis families.
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Isobe, N, Damotte, V, Re, V, Ban, M, Pappas, D, Guillot-Noel, L, Rebeix, I, Compston, A, Mack, T, Cozen, W, Fontaine, B, Sawcer, S, Hauser, Stephen, Oksenberg, Jorge, and Gourraud, Pierre-Antoine
- Subjects
Adult ,Case-Control Studies ,Female ,Genetic Load ,Genetic Loci ,Genetic Predisposition to Disease ,Humans ,Male ,Middle Aged ,Multiple Sclerosis ,Pedigree ,Polymorphism ,Single Nucleotide - Abstract
A previous study using cumulative genetic risk estimations in multiple sclerosis (MS) successfully tracked the aggregation of susceptibility variants in multi-case and single-case families. It used a limited description of susceptibility loci available at the time (17 loci). Even though the full roster of MS risk genes remains unavailable, we estimated the genetic burden in MS families and assess its disease predictive power using up to 64 single-nucleotide polymorphism (SNP) markers according to the most recent literature. A total of 708 controls, 3251 MS patients and their relatives, as well as 117 twin pairs were genotyped. We validated the increased aggregation of genetic burden in multi-case compared with single-case families (P=4.14e-03) and confirm that these data offer little opportunity to accurately predict MS, even within sibships (area under receiver operating characteristic (AUROC)=0.59 (0.55, 0.53)). Our results also suggest that the primary progressive and relapsing-type forms of MS share a common genetic architecture (P=0.368; difference being limited to that corresponding to ± 2 typical MS-associated SNPs). We have confirmed the properties of individual genetic risk score in MS. Comparing with previous reference point for MS genetics (17 SNPs), we underlined the corrective consequences of the integration of the new findings from GWAS and meta-analysis.
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- 2013
12. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
- Author
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Ptacek, Louis, Heinzen, EL, Swoboda, KJ, Hitomi, Y, Gurrieri, F, De, B, Tiziano, FD, Fontaine, B, Walley, NM, Heavin, S, and Panagiotakaki, E
- Abstract
Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequ
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- 2012
13. Historique de la sclérose en plaques
- Author
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Defer, Gilles, primary, Debouverie, Marc, additional, Bardou, I., additional, Benamar, M., additional, Bernard-Valnet, R., additional, Branger, P., additional, Brassat, D., additional, Benallègue, N., additional, Calocer, F., additional, Damotte, V., additional, Dejardin, O., additional, Dejean, A., additional, Derache, N., additional, Docagne, F., additional, Donzé, C., additional, Dubessy, A.-L., additional, Fontaine, B., additional, Fournié, G., additional, Fromont, A., additional, Garcia, A., additional, Hautecœur, P., additional, Lanotte, L., additional, Laplaud, D., additional, Le Mauff, B., additional, Lebas, H., additional, Leray, E., additional, Mathey, G., additional, Merkler, D., additional, Michel, L., additional, Michieletto, M., additional, Morille, J., additional, Nicol, B., additional, Pierrot-Deseilligny, C., additional, Pittion-Vouyovitch, S., additional, Rebeix, I., additional, Saoudi, A., additional, Seilhean, D., additional, Stankoff, B., additional, Toutirais, O., additional, Vivien, D., additional, and Vukusic, S., additional
- Published
- 2019
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14. Immunologie de la sclérose en plaques
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Defer, Gilles, primary, Debouverie, Marc, additional, Bardou, I., additional, Benamar, M., additional, Bernard-Valnet, R., additional, Branger, P., additional, Brassat, D., additional, Benallègue, N., additional, Calocer, F., additional, Damotte, V., additional, Dejardin, O., additional, Dejean, A., additional, Derache, N., additional, Docagne, F., additional, Donzé, C., additional, Dubessy, A.-L., additional, Fontaine, B., additional, Fournié, G., additional, Fromont, A., additional, Garcia, A., additional, Hautecœur, P., additional, Lanotte, L., additional, Laplaud, D., additional, Le Mauff, B., additional, Lebas, H., additional, Leray, E., additional, Mathey, G., additional, Merkler, D., additional, Michel, L., additional, Michieletto, M., additional, Morille, J., additional, Nicol, B., additional, Pierrot-Deseilligny, C., additional, Pittion-Vouyovitch, S., additional, Rebeix, I., additional, Saoudi, A., additional, Seilhean, D., additional, Stankoff, B., additional, Toutirais, O., additional, Vivien, D., additional, and Vukusic, S., additional
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- 2019
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15. Épidémiologie, environnement et génétique dans la sclérose en plaques
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Defer, Gilles, primary, Debouverie, Marc, additional, Bardou, I., additional, Benamar, M., additional, Bernard-Valnet, R., additional, Branger, P., additional, Brassat, D., additional, Benallègue, N., additional, Calocer, F., additional, Damotte, V., additional, Dejardin, O., additional, Dejean, A., additional, Derache, N., additional, Docagne, F., additional, Donzé, C., additional, Dubessy, A.-L., additional, Fontaine, B., additional, Fournié, G., additional, Fromont, A., additional, Garcia, A., additional, Hautecœur, P., additional, Lanotte, L., additional, Laplaud, D., additional, Le Mauff, B., additional, Lebas, H., additional, Leray, E., additional, Mathey, G., additional, Merkler, D., additional, Michel, L., additional, Michieletto, M., additional, Morille, J., additional, Nicol, B., additional, Pierrot-Deseilligny, C., additional, Pittion-Vouyovitch, S., additional, Rebeix, I., additional, Saoudi, A., additional, Seilhean, D., additional, Stankoff, B., additional, Toutirais, O., additional, Vivien, D., additional, and Vukusic, S., additional
- Published
- 2019
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16. Histoire naturelle de la sclérose en plaques
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Defer, Gilles, primary, Debouverie, Marc, additional, Bardou, I., additional, Benamar, M., additional, Bernard-Valnet, R., additional, Branger, P., additional, Brassat, D., additional, Benallègue, N., additional, Calocer, F., additional, Damotte, V., additional, Dejardin, O., additional, Dejean, A., additional, Derache, N., additional, Docagne, F., additional, Donzé, C., additional, Dubessy, A.-L., additional, Fontaine, B., additional, Fournié, G., additional, Fromont, A., additional, Garcia, A., additional, Hautecœur, P., additional, Lanotte, L., additional, Laplaud, D., additional, Le Mauff, B., additional, Lebas, H., additional, Leray, E., additional, Mathey, G., additional, Merkler, D., additional, Michel, L., additional, Michieletto, M., additional, Morille, J., additional, Nicol, B., additional, Pierrot-Deseilligny, C., additional, Pittion-Vouyovitch, S., additional, Rebeix, I., additional, Saoudi, A., additional, Seilhean, D., additional, Stankoff, B., additional, Toutirais, O., additional, Vivien, D., additional, and Vukusic, S., additional
- Published
- 2019
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17. Occupational Cancer in France: Epidemiology, Toxicology, Prevention, and Compensation
- Author
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Aubrun, J. C., Binet, S., Bozec, C., Brochard, P., Dimerman, S., Fontaine, B., Guénel, P., Luce, D., Martinet, Y., Moulin, J. J., Mur, J. M., Pietruszynski, M., and Vallayer, C.
- Published
- 1999
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18. Farmland practices are driving bird population decline across Europe
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Rigal, S., Dakos, V., Alonso, H., Auniņš, A., Benkő, Z., Brotons, L., Chodkiewicz, T., Chylarecki, P., Carli, E. de, Moral, J.C. del, Domşa, C., Escandell, V., Fontaine, B., Foppen, R.P.B., Gregory, R., Harris, S., Herrando, S., Husby, M., Ieronymidou, C., Jiguet, F., Kennedy, J., Klvaňová, A., Kmecl, P., Kuczyński, L., Kurlavičius, P., Kålås, J.A., Lehikoinen, A., Lindström, Å., Lorrillière, R., Moshøj, C., Nellis, R., Noble, D., Eskildsen, D.P., Paquet, J.-Y., Pélissié, M., Pladevall, C., Portolou, D., Reif, J., Schmid, H., Seaman, B., Szabo, Z.D., Szép, T., Florenzano, G.T., Teufelbauer, N., Trautmann, S., Turnhout, C. van, Vermouzek, Z., Vikstrøm, T., Voříšek, P., Weiserbs, A., Devictor, V., Rigal, S., Dakos, V., Alonso, H., Auniņš, A., Benkő, Z., Brotons, L., Chodkiewicz, T., Chylarecki, P., Carli, E. de, Moral, J.C. del, Domşa, C., Escandell, V., Fontaine, B., Foppen, R.P.B., Gregory, R., Harris, S., Herrando, S., Husby, M., Ieronymidou, C., Jiguet, F., Kennedy, J., Klvaňová, A., Kmecl, P., Kuczyński, L., Kurlavičius, P., Kålås, J.A., Lehikoinen, A., Lindström, Å., Lorrillière, R., Moshøj, C., Nellis, R., Noble, D., Eskildsen, D.P., Paquet, J.-Y., Pélissié, M., Pladevall, C., Portolou, D., Reif, J., Schmid, H., Seaman, B., Szabo, Z.D., Szép, T., Florenzano, G.T., Teufelbauer, N., Trautmann, S., Turnhout, C. van, Vermouzek, Z., Vikstrøm, T., Voříšek, P., Weiserbs, A., and Devictor, V.
- Abstract
Item does not contain fulltext
- Published
- 2023
19. Treatabolome DB: linking gene and variants with treatments for rare diseases
- Author
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Corvó, A., Matalonga, L., Hernandez-Ferrer, C., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., de Sandre-Giovannoli, Annachiara, Desaphy, J., Altamura, C., Wahbi, K., Vigouroux, C., Zurek, B., Rheinard, C., Andrés, D. Gómez, Schon, K., Over, L., Brüggemann, N., Lohmann, K., Jennings, M. J., Synofzik, M., Riess, O., Yaou, R. Ben, Evangelista, T., Ratnaike, T., Bros-Facer, V., Gumus, G., Horvath, R., Chinnery, P., Graessner, H., Robinson, P., Atalaia, A., Lochmuller, H., Beltran, S., Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centro Nacional de Analisis Genomico [Barcelona] (CNAG)
- Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Actionable genes - Abstract
International audience; Although next-generation sequencing (NGS) has drastically improved diagnosis for patients with rare diseases (RDs), access to knowledge of effective treatments is still sparse and often unclear. The large number of RDs (>7,000 estimated) and their genetic heterogeneity make the identification of existing treatments difficult for clinicians. To facilitate treatment visibility, Solve-RD has promoted the development of the Treatabolome DB, a database to facilitate the identification of putative treatments linked to the causative gene or genetic variant/s.A relational database maps genetic variants, or genes, to treatments according to the information collected through systematic literature reviews (SLRs) produced by disease experts. To date, 8 SLRs have been completed on congenital myasthenic syndromes, laminopathies, muscular channelopathies, mitochondrial disorders (Leigh syndromes), hereditary peripheral neuropathies, genetic forms of Parkinson's disease, and metabolic myopathies. Currently, the Treatabolome consists of a dataset of more than 180 different treatments addressing more than 1000 unique variants and 77 genes, that can be interrogated through a web portal by clinicians and researchers. Gene and variant associated treatments can be programmatically queried with the API. The RD-Connect GPAP already incorporates a connection with the Treatabolome by benefitting from the open API of the platform.
- Published
- 2023
20. Comparative effectiveness of teriflunomide vs dimethyl fumarate in multiple sclerosis
- Author
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Laplaud, David-Axel, Casey, Romain, Barbin, Laetitia, Debouverie, Marc, De Sèze, Jérôme, Brassat, David, Wiertlewski, Sandrine, Brochet, Bruno, Pelletier, Jean, Vermersch, Patrick, Edan, Gilles, Lebrun-Frenay, Christine, Clavelou, Pierre, Thouvenot, Eric, Camdessanché, Jean-Philippe, Tourbah, Ayman, Stankoff, Bruno, Al Khedr, Abdullatif, Cabre, Philippe, Lubetzki, Catherine, Papeix, Caroline, Berger, Eric, Heinzlef, Olivier, Debroucker, Thomas, Moreau, Thibault, Gout, Olivier, Bourre, Bertrand, Wahab, Abir, Labauge, Pierre, Magy, Laurent, Defer, Gilles, Guennoc, Anne-Marie, Maubeuge, Nicolas, Labeyrie, Céline, Patry, Ivania, Nifle, Chantal, Casez, Olivier, Michel, Laure, Rollot, Fabien, Leray, Emmanuelle, Vukusic, Sandra, Foucher, Yohann, Fontaine, B., Marignier, R., Durand-Dubief, F., Mathey, G., Le Page, E., Peaureaux-Averseng, D., Ouallet, J.C., Ruet, A., Collongues, N., Hautecoeur, P., Zephir, H., Maillard, E., Cohen, M., Derache, N., Branger, P., Ayrignac, X., Carra-Dalliere, C., Fromont, A., Chamard-Witkowski, L., Taithe, F., Moisset, X., Audoin, B., Rico-Lamy, A., Castelnovo, G., Giannesini, C., Fagniez, O., Bensa, C., Gueguen, A., Kasonde, I. Tabellah, De Vilmarest, A., Montcuquet, A., Vaillants, M., Beltran, S., Creange, A., Ayache, S., Abdellaoui, M., Pottier, C., Slesari, I., Deburghraeve, V., Neau, J.P., Servan, J., Pico, F., Henry, C., and Hankiewicz, K.
- Published
- 2019
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21. Animaux venimeux terrestres en opérations extérieures
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LARRÉCHÉ, S., primary, AIGLE, L., additional, PUIDUPIN, M., additional, JEAN, F.-X., additional, TANTI, M., additional, HUPIN, C., additional, PONSAR, M.-L., additional, HAUS, R., additional, FONTAINE, B., additional, DURON, S., additional, and DEMONCHEAUX, J.-P., additional
- Published
- 2018
- Full Text
- View/download PDF
22. Prognosis of right ventricular systolic dysfunction in Duchenne muscular dystrophy patients
- Author
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Orlikowski, D., primary, Mansencal, N., additional, Nguyen, S.L., additional, Wahbi, K., additional, Becane, H.-M., additional, Yaou, R. Ben, additional, Leturcq, F., additional, Lofaso, F., additional, Prigent, H., additional, Dubourg, O., additional, Stojkovic, T., additional, Fontaine, B., additional, Duboc, D., additional, Annane, D., additional, Laforet, P., additional, and Fayssoil, A., additional
- Published
- 2023
- Full Text
- View/download PDF
23. Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia
- Author
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Furby, A., Vicart, S., Camdessanché, J.P., Fournier, E., Chabrier, S., Lagrue, E., Paricio, C., Blondy, P., Touraine, R., Sternberg, D., and Fontaine, B.
- Published
- 2014
- Full Text
- View/download PDF
24. A Robotics Task Scheduler - TAPAS
- Author
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Focant, G., Fontaine, B., Steinicke, L., Joudrier, L., Tokhi, M. O., editor, Virk, G. S., editor, and Hossain, M. A., editor
- Published
- 2006
- Full Text
- View/download PDF
25. Epidemiologie und Genetik
- Author
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Clanet, M., Fontaine, B., Azais-Vuillemin, C., Brassat, D., Steck, Andreas J., editor, Hartung, Hans-Peter, editor, and Kieseier, Bernd C., editor
- Published
- 2003
- Full Text
- View/download PDF
26. Klinische Diagnose und Verlauf der multiplen Sklerose
- Author
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Lubetzki, C., Fontaine, B., Lyon-Caen, O., Steck, Andreas J., editor, Hartung, Hans-Peter, editor, and Kieseier, Bernd C., editor
- Published
- 2003
- Full Text
- View/download PDF
27. Validation of the French version of the Hospital Survey on Patient Safety Culture questionnaire
- Author
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OCCELLI, P., QUENON, J-L., KRET, M., DOMECQ, S., DELAPERCHE, F., CLAVERIE, O., CASTETS-FONTAINE, B., AMALBERTI, R., AUROY, Y., PARNEIX, P., and MICHEL, P.
- Published
- 2013
28. Treatabolome database: current state and new developments towards enhancing rare disease treatment visibility
- Author
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Atalaia, A, Ferrer, C Hernandez, Corvó, A, Matalonga, L, Thompson, R, Carmody, L, Piscia, D, Macaya, A, Lochmuller, A, Manta, A, Fontaine, B, Vicart, S, Desaphy, JF, Altamura, C, Wahbi, K, de Sandre-Giovannoli, Annachiara, Vigouroux, C, Zurek, B, Rheinard, C, Andrés, D Gómez, Schon, K, Over, L, Brüggemann, N, Lohmann, K, Jennings, MJ, Synofzik, M, Riess, O, Yaou, R Ben, Evangelista, T, Ratnaike, T, Facer, V Bros, Gumus, G, Horvath, R, Chinnery, P, Laurie, S, Graessner, H, Robinson, P, Lochmuller, H, Beltran, S, Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Max Planck Institute for Biogeochemistry (MPI-BGC), Max-Planck-Gesellschaft, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CRSA), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)
- Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,rare diseases ,Treatment delay - Abstract
International audience
- Published
- 2022
29. European grassland butterfly indicator 1990-2020 Technical report. Butterfly Conservation Europe & SPRING/eBMS
- Author
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van Swaay, C.A.M., Dennis, E.B., Schmucki, R., Sevilleja, C.G., Åström, S., Balalaikins, M., Barea-Azcón, J.M., Bonelli, S., Botham, M., Cancela, J.P., Collins, S., De Flores, M., Dapporto, L., Dopagne, C., Dziekanska, I., Escobés, R., Faltynek Fric, Z., Fernández-García, J.M., Fontaine, B., Glogovčan, P., Gracianteparaluceta, A., Harpke, Alexander, Harrower, C., Heliölä, J., Houard, X., Judge, M., Kolev, Z., Komac, B., Kühn, Elisabeth, Kuussaari, M., Lang, A., Lysaght, L., Maes, D., McGowan, D., Mestdagh, X., Middlebrook, I., Monasterio, Y., Monteiro, E., Munguira, M.L., Musche, Martin, Olivares, F.J., Õunap, E., Ozden, O., Pavlíčko, A., Pendl, M., Pettersson, L.B., Rákosy, L., Roth, T., Rüdisser, J., Šašić, M., Scalercio, S., Settele, Josef, Sielezniew, M., Sobczyk-Moran, G., Stefanescu, C., Švitra, G., Szabadfalvi, A., Tiitsaar, A., Titeux, N., Tzirkalli, E., Ubach, A., Verovnik, R., Vray, S., Warren, M.S., Wynhoff, I., Roy, D.B., van Swaay, C.A.M., Dennis, E.B., Schmucki, R., Sevilleja, C.G., Åström, S., Balalaikins, M., Barea-Azcón, J.M., Bonelli, S., Botham, M., Cancela, J.P., Collins, S., De Flores, M., Dapporto, L., Dopagne, C., Dziekanska, I., Escobés, R., Faltynek Fric, Z., Fernández-García, J.M., Fontaine, B., Glogovčan, P., Gracianteparaluceta, A., Harpke, Alexander, Harrower, C., Heliölä, J., Houard, X., Judge, M., Kolev, Z., Komac, B., Kühn, Elisabeth, Kuussaari, M., Lang, A., Lysaght, L., Maes, D., McGowan, D., Mestdagh, X., Middlebrook, I., Monasterio, Y., Monteiro, E., Munguira, M.L., Musche, Martin, Olivares, F.J., Õunap, E., Ozden, O., Pavlíčko, A., Pendl, M., Pettersson, L.B., Rákosy, L., Roth, T., Rüdisser, J., Šašić, M., Scalercio, S., Settele, Josef, Sielezniew, M., Sobczyk-Moran, G., Stefanescu, C., Švitra, G., Szabadfalvi, A., Tiitsaar, A., Titeux, N., Tzirkalli, E., Ubach, A., Verovnik, R., Vray, S., Warren, M.S., Wynhoff, I., and Roy, D.B.
- Abstract
Butterfly monitoring enjoys a growing popularity in Europe, mainly supported by Butterfly Conservation Europe (BCE) and its partners. While Butterfly Monitoring Schemes are present in a growing number of countries and new ones are being initiated in many places, long time-series are currently only available for a limited number of countries. For the indicators in this report, we used data from 22 countries (Figure 1): Andorra, Austria, Belgium, Czech Republic, Estonia, Finland, France, Germany, Hungary, Ireland, Jersey, Latvia, Lithuania, Luxembourg, Norway, Romania, Slovenia, Spain, Sweden, Switzerland, The Netherlands and the United Kingdom.The indicators use field data up to and including the 2020 field season. The method for calculating indicators has been greatly improved and enhanced. During 2020, more than 2,500 standardised butterfly transects distributed across 22 monitoring schemes were used to inform the EU27 Grassland Butterfly Indicator and almost 5,000 from 25 schemes for the European Grassland Butterfly Indicator (Figure 2). Since 1990 over 6,350 and 11,500 separate transects have contributed to the EU27 and Europe indicators, respectively.
- Published
- 2022
30. Les gènes impliqués dans la sclérose en plaques seront-ils un jour des biomarqueurs du diagnostic de la maladie ?
- Author
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Fontaine, B.
- Published
- 2012
- Full Text
- View/download PDF
31. Low-frequency variability and zonal contrast in Sahel rainfall and Atlantic sea surface temperature teleconnections during the last century
- Author
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Dieppois, B., Durand, A., Fournier, M., Diedhiou, A., Fontaine, B., Massei, N., Nouaceur, Z., and Sebag, D.
- Published
- 2015
- Full Text
- View/download PDF
32. Climate Adjustments over Africa Accompanying the Indian Monsoon Onset
- Author
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Camberlin, P., Fontaine, B., Louvet, S., Oettli, P., and Valimba, P.
- Published
- 2010
33. Description and preliminary results of PHENIX core flowering test
- Author
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Fontaine, B., Prulhière, G., Vasile, A., Masoni, P., Barret, P., Rochwerger, D., Gros, J., Dupraz, R., Moussallam, N., and Chassignet, M.
- Published
- 2011
- Full Text
- View/download PDF
34. Genetics for understanding and predicting clinical progression in multiple sclerosis
- Author
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Depaz, R., Granger, B., Cournu-Rebeix, I., Bouafia, A., and Fontaine, B.
- Published
- 2011
- Full Text
- View/download PDF
35. Aerothermodynamic and Thermal Phenomena in a High Pulse-Repetition Rate XeCl Laser
- Author
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Truong, J. P., Uteza, O., Sentis, M. L., Delaporte, P., Forestier, B., Fontaine, B., Brun, Raymond, editor, and Dumitrescu, Lucien Z., editor
- Published
- 1995
- Full Text
- View/download PDF
36. Influence of Shock Waves on the Beam Quality of a High Pulse Repetition Frequency XeCl Laser
- Author
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Uteza, O. P., Sentis, M. L., Delaporte, Ph. C., Forestier, B. M., Fontaine, B. L., Brun, Raymond, editor, and Dumitrescu, Lucien Z., editor
- Published
- 1995
- Full Text
- View/download PDF
37. A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility
- Author
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Damotte, V, Guillot-Noel, L, Patsopoulos, N A, Madireddy, L, El Behi, M, De Jager, P L, Baranzini, S E, Cournu-Rebeix, I, and Fontaine, B
- Published
- 2014
- Full Text
- View/download PDF
38. The Impact of Government Policy on the Pulp and Paper Industry
- Author
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Chemeca 92 (20th : 1992 : Canberra, A.C.T.) and La Fontaine, B
- Published
- 1992
39. CHANNELOPATHIES AND RELATED DISORDERS
- Author
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Quiles, R. Villar, primary, Tredez, G., additional, Sternberg, D., additional, Romero, N., additional, Evangelista, T., additional, Laforêt, P., additional, Cintas, P., additional, Sole, G., additional, Sacconi, S., additional, Bendahhou, S., additional, Arzel-Hezode, M., additional, Fournier, E., additional, Fontaine, B., additional, Stojkovic, T., additional, and Vicart, S., additional
- Published
- 2021
- Full Text
- View/download PDF
40. CHANNELOPATHIES AND RELATED DISORDERS
- Author
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Vicart, S., primary, Franques, J., additional, Bouhour, F., additional, Magot, A., additional, Péréon, Y., additional, Sacconi, S., additional, Nadaj-Pakleza, A., additional, Behin, A., additional, Zahr, N., additional, Hezode, M., additional, Fournier, E., additional, Payan, C., additional, Lacomblez, L., additional, and Fontaine, B., additional
- Published
- 2021
- Full Text
- View/download PDF
41. Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in becker muscular dystrophy
- Author
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Motte, L, primary, Stalens, C, additional, Behin, A, additional, Ben Yaou, R, additional, Leturcq, F, additional, Bassez, G, additional, Laforet, P, additional, Fontaine, B, additional, Ederhy, S, additional, Masingue, M, additional, Saadi, M, additional, Leonard Louis, S, additional, Berber, N, additional, Duboc, D, additional, and Wahbi, K, additional
- Published
- 2021
- Full Text
- View/download PDF
42. Treatabolome database: towards enhancing Rare Diseases’ treatment visibility
- Author
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Hernandez-Ferrer, C., Corvó, A., Matalonga, L., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., Desaphy, J., Altamura, C., Wahbi, K., Sandre-Giovannoli, A., Vigouroux, C., Zurek, B., Rheinard, C., Gómez- Andrés, D., Schon, K., Over, L., Brüggemann, N., Lohmann, K., Jennings, M. J., Synofzik, M., Riess, O., Ben Yaou, R., Evangelista, T., Ratnaike, T., Bros-Facer, V., Gumus, G., Horvath, R., Chinnery, P., Graessner, H., Robinson, P., Atalaia, A., Lochmuller, H., Beltran, S., Gisèle Bonne, NOAA Air Resources Laboratory (ARL), National Oceanic and Atmospheric Administration (NOAA), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), and CHU Saint-Antoine [AP-HP]
- Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,rare diseases ,Treatment delay - Abstract
International audience
- Published
- 2021
43. WRF/ARPEGE-CLIMAT simulated climate trends over West Africa
- Author
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Vigaud, N., Roucou, P., Fontaine, B., Sijikumar, S., and Tyteca, S.
- Published
- 2011
- Full Text
- View/download PDF
44. A prospective observational post-marketing study of natalizumab-treated multiple sclerosis patients: clinical, radiological and biological features and adverse events. The BIONAT cohort
- Author
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Outteryck, O., Ongagna, J. C., Brochet, B., Rumbach, L., Lebrun-Frenay, C., Debouverie, M., Zéphir, H., Ouallet, J. C., Berger, E., Cohen, M., Pittion, S., Laplaud, D., Wiertlewski, S., Cabre, P., Pelletier, J., Rico, A., Defer, G., Derache, N., Camu, W., Thouvenot, E., Moreau, T., Fromont, A., Tourbah, A., Labauge, P., Castelnovo, G., Clavelou, P., Casez, O., Hautecoeur, P., Papeix, C., Lubetzki, C., Fontaine, B., Couturier, N., Bohossian, N., Clanet, M., Vermersch, P., de Sèze, J., and Brassat, D.
- Published
- 2014
- Full Text
- View/download PDF
45. Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes
- Author
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Sacconi, S., Simkin, D., Arrighi, N., Chapon, F., Larroque, M.M., Vicart, S., Sternberg, D., Fontaine, B., Barhanin, J., Desnuelle, C., and Bendahhou, S.
- Subjects
Glycogenosis -- Development and progression ,Glycogenosis -- Genetic aspects ,Membrane potentials -- Health aspects ,Muscles -- Health aspects ,Biological sciences - Abstract
Andersen's syndrome is a rare disorder that has been defined with a triad: periodic paralysis, cardiac arrhythmia, and development anomalies. Muscle weakness has been reported in two-thirds of the patients. KCNJ2 remains the only gene linked to Andersen's syndrome; this gene encodes for the [alpha]-subunit of the strong inward-rectifier [K.sup.+] channel Kir2.1. Several studies have shown that Andersen's syndrome mutations lead to a loss of function of the [K.sup.+] channel activity in vitro. However, ex vivo studies on isolated patient muscle tissue have not been reported. We have performed muscle biopsies of controls and patients presenting with clinically and genetically defined Andersen's syndrome disorder. Myoblasts were cultured and characterized morphologically and functionally using the whole cell patch-clamp technique. No morphological difference was observed between Andersen's syndrome and control myoblasts at each passage of the cell culture. Cellular proliferation and viability were quantified in parallel with direct cell counts and showed no difference between control and Andersen's syndrome patients. Moreover, our data show no significant difference in myoblast fusion index among Andersen's syndrome and control patients. Current recordings carried out on myotubes revealed the absence of an inwardly rectifying [Ba.sup.2+]-sensitive current in affected patient cells. One consequence of the Ik1 current loss in Andersen's syndrome myotubes is a shift of the resting membrane potential toward depolarizing potentials. Our data describe for the first time the functional consequences of Andersen's syndrome mutations ex vivo and provide clues to the [K.sup.+] channel pathophysiology in skeletal muscle. skeletal muscle; Andersen's syndrome; potassium ion channels doi: 10.1152/ajpcell.00519.2008
- Published
- 2009
46. Diagnosis and new treatment in muscle channelopathies
- Author
-
Meola, G., Hanna, M.G., and Fontaine, B.
- Subjects
Muscles -- Analysis ,Muscles -- Genetic aspects ,Ion channels -- Genetic aspects ,Ion channels -- Diseases ,Gene mutations -- Analysis ,Muscle diseases -- Diagnosis ,Muscle diseases -- Care and treatment ,Muscle diseases -- Genetic aspects ,Health ,Psychology and mental health - Published
- 2009
47. Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility
- Author
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Patsopoulos, NA, Baranzini, SE, Santaniello, A, Shoostari, P, Cotsapas, C, Wong, G, Beecham, AH, James, T, Replogle, J, Vlachos, IS, McCabe, C, Pers, TH, Brandes, A, White, C, Keenan, B, Cimpean, M, Winn, P, Panteliadis, IP, Robbins, A, Andlauer, TFM, Zarzycki, O, Dubois, B, Goris, A, Sondergaard, HB, Sellebjerg, F, Sorensen, PS, Ullum, H, Thorner, LW, Saarela, J, Cournu-Rebeix, I, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusic, S, Berthele, A, Pongratz, V, Gasperi, C, Graetz, C, Grummel, V, Hemmer, B, Hoshi, M, Knier, B, Korn, T, Lill, CM, Luessi, F, Muhlau, M, Zipp, F, Dardiotis, E, Agliardi, C, Amoroso, A, Barizzone, N, Benedetti, MD, Bernardinelli, L, Cavalla, P, Clarelli, F, Comi, G, Cusi, D, Esposito, F, Ferre, L, Galimberti, D, Guaschino, C, Leone, MA, Martinelli, V, Moiola, L, Salvetti, M, Sorosina, M, Vecchio, D, Zauli, A, Santoro, S, Mancini, N, Zuccala, M, Mescheriakova, J, van Duijn, C, Bos, SD, Celius, EG, Spurkland, A, Comabella, M, Montalban, X, Alfredsson, L, Bomfim, IL, Gomez-Cabrero, D, Hillert, J, Jagodic, M, Linden, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Baker, A, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Molyneux, P, Neville, M, Thorpe, J, Bradshaw, E, Caillier, SJ, Calabresi, P, Cree, BAC, Cross, A, Davis, M, de Bakker, PWI, Delgado, S, Dembele, M, Edwards, K, Fitzgerald, K, Frohlich, IY, Gourraud, PA, Haines, JL, Hakonarson, H, Kimbrough, D, Isobe, N, Konidari, I, Lathi, E, Lee, MH, Li, T, An, D, Zimmer, A, Madireddy, L, Manrique, CP, Mitrovic, M, Olah, M, Patrick, E, Pericak-Vance, MA, Piccio, L, Schaefer, C, Weiner, H, Lage, K, Scott, RJ, Lechner-Scott, J, Leal, R, Moscato, P, Booth, DR, Stewart, GJ, Vucic, S, Pame, G, BamettO, M, Mason, D, GriffithS, L, Broadley, S, Tajouri, L, Baxter, A, Slee, M, Taylor, BV, Charlesworth, J, Kilpatrick, TJ, Rubio, J, Jokubaitis, V, Wiley, J, Butzkueven, H, Leslie, S, Motyer, A, Stankovich, J, Carroll, WM, Kermode, AG, Edrin, M, Barclay, M, Peyrin-Biroulet, L, Chamaillard, M, Colombe, JF, Cottone, M, Croft, A, D'Inca, R, Halfvarson, J, Hanigan, K, Henderson, P, Hugot, JP, Karban, A, Kennedy, NA, Khan, MA, Lemann, M, Levine, A, Massey, D, Milla, M, Motoey, GW, Ng, SME, Oikonomnou, J, Peeters, H, Proctor, DD, Rahier, JF, Roberts, R, Rutgeerts, P, Seibold, F, Stronati, L, Taylor, KM, Torkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, MH, Zhang, H, Zhang, W, Donnelly, P, Barroso, I, Blackwe, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Sul, Z, Vukcevic, DA, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Compston, A, Hafler, D, Harbo, HF, Hauser, SL, Stewart, G, D'Alfonso, S, Hadjigeorgiou, G, Taylor, B, Barcellos, LF, Booth, D, Hintzen, R, Kockum, I, Martinelli-Boneschi, F, McCauley, JL, Oksenberg, JR, Oturai, A, Sawcer, S, Ivinson, AJ, Olsson, T, De Jager, PL, Patsopoulos, Na, Baranzini, Se, Santaniello, A, Shoostari, P, Cotsapas, C, Wong, G, Beecham, Ah, James, T, Replogle, J, Vlachos, I, Mccabe, C, Pers, Th, Brandes, A, White, C, Keenan, B, Cimpean, M, Winn, P, Panteliadis, Ip, Robbins, A, Andlauer, Tfm, Zarzycki, O, Dubois, B, Goris, A, Sondergaard, Hb, Sellebjerg, F, Sorensen, P, Ullum, H, Thorner, Lw, Saarela, J, Cournu-Rebeix, I, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusic, S, Berthele, A, Pongratz, V, Gasperi, C, Graetz, C, Grummel, V, Hemmer, B, Hoshi, M, Knier, B, Korn, T, Lill, Cm, Luessi, F, Muhlau, M, Zipp, F, Dardiotis, E, Agliardi, C, Amoroso, A, Barizzone, N, Benedetti, Md, Bernardinelli, L, Cavalla, P, Clarelli, F, Comi, G, Cusi, D, Esposito, F, Ferre, L, Galimberti, D, Guaschino, C, Leone, Ma, Martinelli, V, Moiola, L, Salvetti, M, Sorosina, M, Vecchio, D, Zauli, A, Santoro, S, Mancini, N, Zuccala, M, Mescheriakova, J, van Duijn, C, Bos, Sd, Celius, Eg, Spurkland, A, Comabella, M, Montalban, X, Alfredsson, L, Bomfim, Il, Gomez-Cabrero, D, Hillert, J, Jagodic, M, Linden, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Baker, A, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Molyneux, P, Neville, M, Thorpe, J, Bradshaw, E, Caillier, Sj, Calabresi, P, Cree, Bac, Cross, A, Davis, M, de Bakker, Pwi, Delgado, S, Dembele, M, Edwards, K, Fitzgerald, K, Frohlich, Iy, Gourraud, Pa, Haines, Jl, Hakonarson, H, Kimbrough, D, Isobe, N, Konidari, I, Lathi, E, Lee, Mh, Li, T, An, D, Zimmer, A, Madireddy, L, Manrique, Cp, Mitrovic, M, Olah, M, Patrick, E, Pericak-Vance, Ma, Piccio, L, Schaefer, C, Weiner, H, Lage, K, Scott, Rj, Lechner-Scott, J, Leal, R, Moscato, P, Booth, Dr, Stewart, Gj, Vucic, S, Pame, G, Bametto, M, Mason, D, Griffiths, L, Broadley, S, Tajouri, L, Baxter, A, Slee, M, Taylor, Bv, Charlesworth, J, Kilpatrick, Tj, Rubio, J, Jokubaitis, V, Wiley, J, Butzkueven, H, Leslie, S, Motyer, A, Stankovich, J, Carroll, Wm, Kermode, Ag, Edrin, M, Barclay, M, Peyrin-Biroulet, L, Chamaillard, M, Colombe, Jf, Cottone, M, Croft, A, D'Inca, R, Halfvarson, J, Hanigan, K, Henderson, P, Hugot, Jp, Karban, A, Kennedy, Na, Khan, Ma, Lemann, M, Levine, A, Massey, D, Milla, M, Motoey, Gw, Ng, Sme, Oikonomnou, J, Peeters, H, Proctor, Dd, Rahier, Jf, Roberts, R, Rutgeerts, P, Seibold, F, Stronati, L, Taylor, Km, Torkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, Mh, Zhang, H, Zhang, W, Donnelly, P, Barroso, I, Blackwe, Jm, Bramon, E, Brown, Ma, Casas, Jp, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, H, Mathew, Cg, Palmer, Cna, Plomin, R, Rautanen, A, Sawcer, Sj, Trembath, Rc, Viswanathan, Ac, Wood, Nw, Spencer, Cca, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Sul, Z, Vukcevic, Da, Langford, C, Hunt, Se, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, Sj, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, Mccann, Ot, Liddle, J, Potter, Sc, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Compston, A, Hafler, D, Harbo, Hf, Hauser, Sl, Stewart, G, D'Alfonso, S, Hadjigeorgiou, G, Taylor, B, Barcellos, Lf, Booth, D, Hintzen, R, Kockum, I, Martinelli-Boneschi, F, Mccauley, Jl, Oksenberg, Jr, Oturai, A, Sawcer, S, Ivinson, Aj, Olsson, T, De Jager, Pl, Neurology, and Immunology
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0301 basic medicine ,Multiple Sclerosis ,Quantitative Trait Loci ,Inheritance Patterns ,Cell Cycle Proteins ,Genome-wide association study ,Biology ,Major histocompatibility complex ,Polymorphism, Single Nucleotide ,Major Histocompatibility Complex ,Transcriptome ,03 medical and health sciences ,0302 clinical medicine ,Immune system ,Gene Frequency ,Autoimmune Process ,medicine ,Humans ,RNA-Seq ,X chromosome ,Genetics ,Chromosomes, Human, X ,Multidisciplinary ,Microglia ,Multiple sclerosis ,GTPase-Activating Proteins ,Chromosome Mapping ,Genomics ,medicine.disease ,3. Good health ,030104 developmental biology ,medicine.anatomical_structure ,Genetic Loci ,Case-Control Studies ,biology.protein ,Genome-Wide Association Study ,030217 neurology & neurosurgery - Abstract
Genetic roots of multiple sclerosis The genetics underlying who develops multiple sclerosis (MS) have been difficult to work out. Examining more than 47,000 cases and 68,000 controls with multiple genome-wide association studies, the International Multiple Sclerosis Genetics Consortium identified more than 200 risk loci in MS (see the Perspective by Briggs). Focusing on the best candidate genes, including a model of the major histocompatibility complex region, the authors identified statistically independent effects at the genome level. Gene expression studies detected that every major immune cell type is enriched for MS susceptibility genes and that MS risk variants are enriched in brain-resident immune cells, especially microglia. Up to 48% of the genetic contribution of MS can be explained through this analysis. Science , this issue p. eaav7188 ; see also p. 1383
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- 2019
48. Differential default mode network trajectories in asymptomatic individuals at risk for Alzheimer's disease
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Chiesa P. A., Cavedo E., Vergallo A., Lista S., Potier M. -C., Habert M. -O., Dubois B., Thiebaut de Schotten M., Hampel H., Audrain C., Auffret A., Bakardjian H., Baldacci F., Batrancourt B., Benakki I., Benali H., Bertin H., Bertrand A., Boukadida L., Cacciamani F., Causse V., Cherif Touil S., Colliot O., Dalla Barba G., Depaulis M., Dos Santos A., Dubois M., Epelbaum S., Fontaine B., Francisque H., Gagliardi G., Genin A., Genthon R., Glasman P., Gombert F., Habert M. O., Hewa H., Houot M., Jungalee N., Kas A., Kilani M., La Corte V., Le Roy F., Lehericy S., Letondor C., Levy M., Lowrey M., Ly J., Makiese O., Masetti I., Mendes A., Metzinger C., Michon A., Mochel F., Nait Arab R., Nyasse F., Perrin C., Poirier F., Poisson C., Potier M. C., Ratovohery S., Revillon M., Rojkova K., Santos-Andrade K., Schindler R., Servera M. C., Seux L., Simon V., Skovronsky D., Uspenskaya O., Vlaincu M., Aguilar L. F., Babiloni C., Benda N., Black K. L., Bokde A. L. W., Bonuccelli U., Broich K., Cacciola F., Castrillo J., Ceravolo R., Corvol J. -C., Claudio Cuello A., Cummings J. L., Depypere H., Duggento A., Durrleman S., Escott-Price V., Federoff H., Teresa Ferretti M., Fiandaca M., Frank R. A., Garaci F., Geerts H., George N., Giorgi F. S., Graziani M., Haberkamp M., Herholz K., Karran E., Kim S. H., Koronyo Y., Koronyo-Hamaoui M., Lamari F., Langevin T., Lorenceau J., Mango D., Mapstone M., Neri C., Nistico R., O'Bryant S. E., Palermo G., Perry G., Ritchie C., Rossi S., Saidi A., Santarnecchi E., Schneider L. S., Sporns O., Toschi N., Verdooner S. R., Villain N., Welikovitch L. A., Woodcock J., Younesi E., Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neuroradiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Treat SVD, Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), sans affiliation, Institut de la Mémoire et de la Maladie d'Alzheimer [Paris] (IM2A), Sorbonne Université (SU), Algorithms, models and methods for images and signals of the human brain (ARAMIS), Sorbonne Université (SU)-Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université de Bordeaux (UB), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de médecine nucléaire [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre des Maladies Cognitives et Comportementales [Paris], Fraunhofer Center for Assistive Information and Communication Solutions [Porto] (Fraunhofer AICOS), Fraunhofer (Fraunhofer-Gesellschaft), Ariana Pharmaceuticals, McGill University = Université McGill [Montréal, Canada], Universidad Autonoma de Madrid (UAM), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], University of Pisa - Università di Pisa, Federal Institute of Drugs and Medical Devices [Bonn], Discipline of Psychiatry [Dublin], School of Medicine [Dublin], Trinity College Dublin-Trinity College Dublin, Universita degli Studi di Messina, University of Catania [Italy], University of Cambridge [UK] (CAM), Lou Ruvo Center for Brain Health [Las Vegas], Cleveland Clinic, Università degli Studi di Roma Tor Vergata [Roma], University of Pavia, Cardiff University, Universität Zürich [Zürich] = University of Zurich (UZH), University of California [Irvine] (UCI), University of California, Siemens Healthineers, Digital Services, Digital Technology and Innovation, In Silico Biosciences (ISB), Abdus Salam International Centre for Theoretical Physics [Trieste] (ICTP), University of California [San Francisco] (UCSF), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Manchester [Manchester], National Institute on Aging [Bethesda, USA] (NIA), National Institutes of Health [Bethesda] (NIH), Abbvie Inc. [North Chicago], Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, University of Britsh Columbia [Vancouver], Cedars-Sinai Medical Center, Functional Neuromodulation, CIBER de Enfermedades Raras (CIBERER), Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), European Brain Research Institute [Rome, Italy] (EBRI), Adaptation Biologique et Vieillissement = Biological Adaptation and Ageing (B2A), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institute for Aging and Alzheimer’s Disease Research [Fort Worth] (IAADR), University of North Texas Health Science Center [Fort Worth], University of Auckland [Auckland], University of Edinburgh, Università degli Studi di Siena = University of Siena (UNISI), Harvard Medical School [Boston] (HMS), Keck School of Medicine [Los Angeles], University of Southern California (USC), Indiana State University, Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS), NeuroVision Imaging, Fondation pour la Recherche sur Alzheimer, Center for Drug Evaluation and Research (CDER), European Society for Translational Medicine (EUSTM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service d'Explorations Fonctionnelles Neurologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de médecine nucléaire [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Fraunhofer AICOS [Porto], McGill University, Sapienza University [Rome], University of Zürich [Zürich] (UZH), Università degli Studi di Roma 'La Sapienza' [Rome], CHU Pitié-Salpêtrière [APHP], Service de neuro-radiologie [CHU Pitié-Salpêtrière], Università degli Studi di Siena (UNISI), Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de la Mémoire et de la Maladie d'Alzheimer [CHU Pitié-Salpétriêre] (IM2A), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Service de Médecine nucléaire [CHU Pitié-Salpétrière], Universidad Autónoma de Madrid (UAM), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Imagerie Biomédicale [Paris] (LIB), Sans affiliation, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Università degli Studi di Messina = University of Messina (UniMe), Università degli Studi di Pavia = University of Pavia (UNIPV), University of California [Irvine] (UC Irvine), University of California (UC), University of California [San Francisco] (UC San Francisco), University of British Columbia [Vancouver], Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Chiesa, P. A., Cavedo, E., Vergallo, A., Lista, S., Potier, M. -C., Habert, M. -O., Dubois, B., Thiebaut de Schotten, M., Hampel, H., Audrain, C., Auffret, A., Bakardjian, H., Baldacci, F., Batrancourt, B., Benakki, I., Benali, H., Bertin, H., Bertrand, A., Boukadida, L., Cacciamani, F., Causse, V., Cherif Touil, S., Colliot, O., Dalla Barba, G., Depaulis, M., Dos Santos, A., Dubois, M., Epelbaum, S., Fontaine, B., Francisque, H., Gagliardi, G., Genin, A., Genthon, R., Glasman, P., Gombert, F., Habert, M. O., Hewa, H., Houot, M., Jungalee, N., Kas, A., Kilani, M., La Corte, V., Le Roy, F., Lehericy, S., Letondor, C., Levy, M., Lowrey, M., Ly, J., Makiese, O., Masetti, I., Mendes, A., Metzinger, C., Michon, A., Mochel, F., Nait Arab, R., Nyasse, F., Perrin, C., Poirier, F., Poisson, C., Potier, M. C., Ratovohery, S., Revillon, M., Rojkova, K., Santos-Andrade, K., Schindler, R., Servera, M. C., Seux, L., Simon, V., Skovronsky, D., Uspenskaya, O., Vlaincu, M., Aguilar, L. F., Babiloni, C., Benda, N., Black, K. L., Bokde, A. L. W., Bonuccelli, U., Broich, K., Cacciola, F., Castrillo, J., Ceravolo, R., Corvol, J. -C., Claudio Cuello, A., Cummings, J. L., Depypere, H., Duggento, A., Durrleman, S., Escott-Price, V., Federoff, H., Teresa Ferretti, M., Fiandaca, M., Frank, R. A., Garaci, F., Geerts, H., George, N., Giorgi, F. S., Graziani, M., Haberkamp, M., Herholz, K., Karran, E., Kim, S. H., Koronyo, Y., Koronyo-Hamaoui, M., Lamari, F., Langevin, T., Lorenceau, J., Mango, D., Mapstone, M., Neri, C., Nistico, R., O'Bryant, S. E., Palermo, G., Perry, G., Ritchie, C., Rossi, S., Saidi, A., Santarnecchi, E., Schneider, L. S., Sporns, O., Toschi, N., Verdooner, S. R., Villain, N., Welikovitch, L. A., Woodcock, J., Younesi, E., and Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
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0301 basic medicine ,Apolipoprotein E ,Epidemiology ,Brain activity and meditation ,Precuneus ,Disease ,Neuropsychological Tests ,Hippocampus ,Cohort Studies ,[SCCO]Cognitive science ,0302 clinical medicine ,Medicine ,Longitudinal Studies ,Default mode network ,ComputingMilieux_MISCELLANEOUS ,Brain Mapping ,Subjective memory complaints ,Brain functional dynamic ,Health Policy ,Precision medicine ,fMRI ,Settore BIO/14 ,Brain ,Brain functional dynamics ,Alzheimer's disease ,Magnetic Resonance Imaging ,Temporal Lobe ,Frontal Lobe ,Psychiatry and Mental health ,medicine.anatomical_structure ,Cohort ,Biomarker (medicine) ,Female ,Amyloid ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Apolipoproteins E ,Developmental Neuroscience ,Alzheimer Disease ,Humans ,Aged ,Resting state fMRI ,business.industry ,[SCCO.NEUR]Cognitive science/Neuroscience ,030104 developmental biology ,Neurology (clinical) ,Geriatrics and Gerontology ,business ,Neuroscience ,030217 neurology & neurosurgery - Abstract
Introduction The longitudinal trajectories of functional brain dynamics and the impact of genetic risk factors in individuals at risk for Alzheimer's disease are poorly understood. Methods In a large-scale monocentric cohort of 224 amyloid stratified individuals at risk for Alzheimer's disease, default mode network (DMN) resting state functional connectivity (FC) was investigated between two serial time points across 2 years. Results Widespread DMN FC changes were shown in frontal and posterior areas, as well as in the right hippocampus. There were no cross-sectional differences, however, apolipoprotein E e4 (APOE e4) carriers demonstrated slower increase in FC in frontal lobes. There was no impact of individual brain amyloid load status. Discussion For the first time, we demonstrated that the pleiotropic biological effect of the APOE e4 allele impacts the dynamic trajectory of the DMN during aging. Dynamic functional biomarkers may become useful surrogate outcomes for the development of preclinical targeted therapeutic interventions.
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- 2019
49. HLA-DRB1*15 allele influences the later course of relapsing remitting multiple sclerosis
- Author
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Cournu-Rebeix, I, Génin, E, Leray, E, Babron, M-C, Cohen, J, Gout, C, Alizadeh, M, Perdry, H, Semana, G, Brassat, D, Clerget-Darpoux, F, Yaouanq, J, Edan, G, Rosenheim, M, and Fontaine, B
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- 2008
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50. Leukoencephalopathies associated with inborn errors of metabolism in adults
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Sedel, F., Tourbah, A., Fontaine, B., Lubetzki, C., Baumann, N., Saudubray, J.-M., and Lyon-Caen, O.
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- 2008
- Full Text
- View/download PDF
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