577 results on '"Svendsen, C"'
Search Results
2. iPSC modeling of young-onset Parkinson’s disease reveals a molecular signature of disease and novel therapeutic candidates
- Author
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Laperle, A. H., Sances, S., Yucer, N., Dardov, V. J., Garcia, V. J., Ho, R., Fulton, A. N., Jones, M. R., Roxas, K. M., Avalos, P., West, D., Banuelos, M. G., Shu, Z., Murali, R., Maidment, N. T., Van Eyk, J. E., Tagliati, M., and Svendsen, C. N.
- Published
- 2020
- Full Text
- View/download PDF
3. Faulty neuronal determination and cell polarization are reverted by modulating HD early phenotypes
- Author
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Conforti, P., Besusso, D., Bocchi, V. D., Faedo, A., Cesana, E., Rossetti, G., Ranzani, V., Svendsen, C. N., Thompson, L. M., Toselli, M., Biella, G., Pagani, M., and Cattaneo, E.
- Published
- 2018
4. Dehydroepiandrosterone (DHEA) and DHEA-Sulfate (DHEAS) Protect Hippocampal Neurons against Excitatory Amino Acid-Induced Neurotoxicity
- Author
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Kimonides, V. G., Khatibi, N. H., Svendsen, C. N., Sofroniew, M. V., and Herbert, J.
- Published
- 1998
5. Soil properties influence the toxicity and availability of Zn from ZnO nanoparticles to earthworms
- Author
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Lahive, E, Matzke, M, Svendsen, C, Spurgeon, D J, Pouran, H, Zhang, H, Lawlor, A, Glória Pereira, M, Lofts, S, Lahive, E, Matzke, M, Svendsen, C, Spurgeon, D J, Pouran, H, Zhang, H, Lawlor, A, Glória Pereira, M, and Lofts, S
- Abstract
To develop models that support site-specific risk assessment for nanoparticles (NPs), a better understanding of how NP transformation processes, bioavailability and toxicity are influenced by soil properties is needed. In this study, the influence of differing soil properties on the bioavailability and toxicity of zinc oxide (ZnO) NPs and ionic Zn to the earthworm Eisenia fetida was investigated. Earthworms were exposed to ZnO_NPs and ionic Zn, between 100 and 4400 mg Zn/kg, in four different natural soils (organic matter content: 1.8-16.7%, soil pH: 5.4-8.3, representing sandy loam to calcareous soils). Survival and reproduction were assessed after 28 and 56 days, respectively. Zn concentrations in soil pore waters were measured while labile concentrations of Zn were measured using an in-situ dynamic speciation technique (diffusive gradient in thin films, DGT). Earthworm Zn tissue concentrations were also measured. Soil properties influenced earthworm reproduction between soil controls, with highest reproductive output in soils with pH values of 6-7. Toxicity was also influenced by soil properties, with EC 50s based on total Zn in soil ranging from 694 to >2200 mg Zn/kg for ZnO_NP and 277-734 mg Zn/kg for ionic Zn. Soil pore water and DGT measurements showed good agreement in the relative amount of Zn extracted across the four soils. Earthworms exposed to ZnO_NPs survived higher Zn concentrations in the soils and had higher tissue concentrations compared with ionic Zn exposures, particularly in the high organic content calcareous soil. These higher tissue concentrations in ZnO_NP exposed earthworm could have consequences for the persistence and trophic mobility of Zn in terrestrial systems and need to be further investigated to elucidate if there any longer-term risks associated with sustained input of ZnO_NP to soil.
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- 2023
6. Protocol for designing INVITES-IN, a tool for assessing the internal validity of in vitro studies.
- Author
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Svendsen, C. and Svendsen, C.
- Subjects
- All institutes and research themes of the Radboud University Medical Center., Radboudumc 2: Cancer development and immune defence Anesthesiology.
- Published
- 2023
7. Effects of PVC and Nylon Microplastics on Survival and Reproduction of the Small Terrestrial Earthworm Enchytraeus crypticus
- Author
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Walton, A., primary, Lahive, E., additional, Svendsen, C., additional, and Galloway, T., additional
- Published
- 2017
- Full Text
- View/download PDF
8. List of Contributors
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Abbas, B., primary, Abreu, A., additional, Adams, R., additional, Adolfsson-Erici, M., additional, Afonso, A., additional, Afonso-Olivares, C., additional, Agirbas, E., additional, Aguiló, J.M., additional, Airoldi, L., additional, Aksoy, H., additional, Albentosa, M., additional, Alcaro, L., additional, Aliani, S., additional, Al-Maslamani, I., additional, Alomar, C., additional, Altin, D., additional, Álvarez, E., additional, Amaral-Zettler, L.A., additional, Amato, E., additional, Anderson, A., additional, Andrady, A.L., additional, Andrius, G., additional, Angel, D., additional, Ariese, F., additional, Arp, H.P., additional, Asensio, M., additional, Assidqi, K., additional, Avio, C.G., additional, Aytan, U., additional, Bahri, T., additional, Baini, M., additional, Bakir, A., additional, Ball, H., additional, Baranyi, C., additional, Barboza, L.G.A., additional, Barg, U., additional, Bargelloni, L., additional, Barras, H., additional, Barrera, C., additional, Barria, P., additional, Barrows, A., additional, Barth, A., additional, Batel, A., additional, Baztan, J., additional, Baztan, P., additional, Beiras, R., additional, Benedetti, M., additional, Berber, A.A., additional, Berber, N., additional, Bergmann, M., additional, Berlino, M., additional, Berrow, S., additional, Bessa, F., additional, Besseling, E., additional, Beyer, B., additional, Binaglia, M., additional, Bizjak, T., additional, Bjorndal, K.A., additional, Blust, R., additional, Boertien, M., additional, Bolten, A.B., additional, Booth, A.M., additional, Bounoua, B., additional, Bourseau, P., additional, Brahimi, N., additional, Bramini, M., additional, Brennholt, N., additional, Breuninger, E., additional, Bried, J., additional, Broderick, A., additional, Broglio, E., additional, Browne, M.A., additional, Bruzaud, S., additional, Buceta, J., additional, Buchinger, S., additional, Budimir, S., additional, Budzin-ski, H., additional, Butter, E., additional, Cachot, J., additional, Caetano, M., additional, Callaghan, A., additional, Camedda, A., additional, Capella, S., additional, Cardelli, L., additional, Carpentieri, S., additional, Carrasco, A., additional, Carriço, R., additional, Caruso, A., additional, Cassone, A.-L., additional, Castillo, A., additional, Castro, R.O., additional, Catarino, A.I., additional, Cazenave, P.W., additional, Çelik, İ., additional, Cerralbo, P., additional, César, G., additional, Chouinard, O., additional, Chubarenko, I., additional, Chubarenko, I.P., additional, Cicero, A.M., additional, Clarindo, G., additional, Clarke, B., additional, Clérandeau, C., additional, Clüsener-Godt, M., additional, Codina-García, M., additional, Cole, M., additional, Collard, F., additional, Collignon, A., additional, Collins, T., additional, Compa, M., additional, Conan, P., additional, Constant, M., additional, Cordier, M., additional, Courtene-Jones, W., additional, Cousin, X., additional, Covelo, P., additional, Cózar, A., additional, Crichton, E., additional, Crispi, O., additional, Cronin, M., additional, Croot, P.L., additional, Cruz, M.J., additional, d’Errico, G., additional, Dâmaso, C., additional, Das, K., additional, de Alencastro, L.F., additional, de Araujo, F.V., additional, de Boer, J.F., additional, de Lucia, G.A., additional, Debeljak, P., additional, Dehaut, A., additional, Deudero, S., additional, Devrieses, L., additional, Di Vito, S., additional, Díaz, A., additional, Donohue, J., additional, Doumenq, P., additional, Doyle, T.K., additional, Dris, R., additional, Druon, J.-N., additional, Duarte, C.M., additional, Duflos, G., additional, Dumontier, M., additional, Duncan, E., additional, Dussud, C., additional, Eckerlebe, A., additional, Egelkraut-Holtus, M., additional, Eidsvoll, D.P., additional, Ek, C., additional, Elena, S., additional, Elineau, A., additional, Enevoldsen, H., additional, Eppe, G., additional, Eriksen, M., additional, Ernsteins, R., additional, Espino, M., additional, Estévez-Calvar, N., additional, Ewins, C., additional, Fabre, P., additional, Faimali, M., additional, Fattorini, D., additional, Faure, F., additional, Ferrando, S., additional, Ferreira, J.C., additional, Ferreira-da-Costa, M., additional, Fileman, E., additional, Fischer, M., additional, Fortunato, A.B., additional, Fossi, M.C., additional, Foulon, V., additional, Frank, A., additional, Frenzel, M., additional, Frère, L., additional, Frias, J.P.G.L., additional, Frick, H., additional, Froneman, P.W., additional, Gabet, V.M., additional, Gabrielsen, G.W., additional, Gago, J., additional, Gajst, T., additional, Galgani, F., additional, Gallinari, M., additional, Galloway, T.S., additional, Gamarro, E.G., additional, Gambardella, C., additional, Garaventa, F., additional, Garcia, S., additional, Garrabou, J., additional, Garrido, P., additional, Gary, S.F., additional, Gasperi, J., additional, Gaze, W., additional, Geertz, T., additional, Gelado-Caballero, M.D., additional, George, M., additional, Gercken, J., additional, Gerdts, G., additional, Ghiglione, J.-F., additional, Gies, E., additional, Gilbert, B., additional, Giménez, L., additional, Glassom, D., additional, Glockzin, M., additional, Godley, B., additional, Goede, K., additional, Goksøyr, A., additional, Gómez, M., additional, Gómez-Parra, A., additional, González-Marco, D., additional, González-Solís, J., additional, Gorbi, S., additional, Gorokhova, E., additional, Gorsky, G., additional, Gosch, M., additional, Grose, J., additional, Guebitz, G.M., additional, Guedes-Alonso, R., additional, Guijarro, B., additional, Guilhermino, L., additional, Gundry, T., additional, Gutow, L., additional, Haave, M., additional, Haeckel, M., additional, Haernvall, K., additional, Hajbane, S., additional, Hamann, M., additional, Hämer, J., additional, Hamm, T., additional, Hansen, B.H., additional, Hardesty, B.D., additional, Harth, B., additional, Hartikainen, S., additional, Hassellöv, M., additional, Hatzky, S., additional, Healy, M.G., additional, Hégaret, H., additional, Henry, T.B., additional, Hermabessiere, L., additional, Hernández-Brito, J.J., additional, Hernandez-Gonzalez, A., additional, Hernandez-Milian, G., additional, Hernd, G., additional, Herrera, A., additional, Herring, C., additional, Herzke, D., additional, Heussner, S., additional, Hidalgo-Ruz, V., additional, Himber, C., additional, Holland, M., additional, Hong, N.-H., additional, Horton, A.A., additional, Horvat, P., additional, Huck, T., additional, Huhn, M., additional, Huvet, A., additional, Iglesias, M., additional, Igor, C., additional, Isachenko, I.A., additional, Ivar do Sul, J-A., additional, Jahnke, A., additional, Janis, B., additional, Janis, K., additional, Janis, U., additional, Jemec, A., additional, Jiménez, J.C., additional, Johnsen, H., additional, Jorgensen, B., additional, Jørgensen, J.H., additional, Jörundsdóttir, H., additional, Jung, Y.-J., additional, Kedzierski, M., additional, Keiter, S., additional, Kershaw, P., additional, Kerhervé, P., additional, Kesy, K., additional, Khan, F., additional, Khatmullina, L.I., additional, Kirby, J., additional, Kiriakoulakis, K., additional, Klein, R., additional, Klunderud, T., additional, Knudsen, C.M.H., additional, Knudsen, T.B., additional, Kochleus, C., additional, Koelmans, A.A., additional, Kögel, T., additional, Koistinen, A., additional, Kopke, K., additional, Korez, Š., additional, Kowalski, N., additional, Kreikemeyer, B., additional, Kroon, F., additional, Krumpen, T., additional, Krzan, A., additional, Kržan, A., additional, Labrenz, M., additional, Lacroix, C., additional, Ladirat, L., additional, Laforsch, C., additional, Lagarde, F., additional, Lahive, E., additional, Lambert, C., additional, Lapucci, C., additional, Lattin, G., additional, Law, K.L., additional, Le Roux, F., additional, Le Souef, K., additional, Le Tilly, V., additional, Lebreton, L., additional, Leemans, E., additional, Lehtiniemi, M., additional, Lenz, M., additional, Leskinen, J., additional, Leslie, H., additional, Leslie, H.A., additional, Levasseur, C., additional, Lewis, C., additional, Licandro, P., additional, Lind, K., additional, Lindeque, P., additional, Lindeque, P.K., additional, Lips, I., additional, Liria, A., additional, Liria-Loza, A., additional, Llinás, O., additional, Loiselle, S.A., additional, Long, M., additional, Lorenz, C., additional, Lorenzo, S.M., additional, Loubar, K., additional, Luna-Jorquera, G., additional, Lusher, A.L., additional, Macchia, V., additional, MacGabban, S., additional, Mackay, K., additional, MacLeod, M., additional, Maes, T., additional, Magaletti, E., additional, Maggiore, A., additional, Magnusson, K., additional, Mahon, A.M., additional, Makorič, P., additional, Mallow, O., additional, Marques, J., additional, Marsili, L., additional, Martí, E., additional, Martignac, M., additional, Martin, J., additional, Martínez, I., additional, Martínez, J., additional, Martinez-Gil, M., additional, Martins, H.R., additional, Matiddi, M., additional, Maximenko, N., additional, Mazlum, R., additional, Mcadam, R., additional, Mcknight, L., additional, McNeal, A.W., additional, Measures, J., additional, Mederos, M.S., additional, Mendoza, J., additional, Meyer, M.S., additional, Miguelez, A., additional, Milan, M., additional, Militão, T., additional, Miller, R.Z., additional, Mino-Vercellio-Verollet, M., additional, Mir, G., additional, Miranda-Urbina, D., additional, Misurale, F., additional, Montesdeoca-Esponda, S., additional, Mora, J., additional, Morgana, S., additional, Moriceau, B., additional, Morin, B., additional, Morley, A., additional, Morrison, L., additional, Murphy, F., additional, Naidoo, T., additional, Näkki, P., additional, Napper, I.E., additional, Narayanaswamy, B.E., additional, Nash, R., additional, Negri, A., additional, Nel, H.A., additional, Nerheim, M.S., additional, Nerland, I.L., additional, Neto, J., additional, Neves, V., additional, Nies, H., additional, Noel, M., additional, Nor, N.H.M., additional, Noren, F., additional, O’ Connell, B., additional, O’ Connor, I., additional, Obbard, J.P., additional, Oberbeckmann, S., additional, Obispo, R., additional, Officer, R., additional, Ogonowski, M., additional, Orbea, A., additional, Ortlieb, M., additional, Osborn, A.M., additional, Ostiategui-Francia, P., additional, Packard, T., additional, Pahl, S., additional, Palatinus, A., additional, Palmqvist, A., additional, Pannetier, P., additional, Panti, C., additional, Parmentier, E., additional, Pasanen, P., additional, Patarnello, T., additional, Pattiaratchi, C., additional, Pauletto, M., additional, Paulus, M., additional, Pavlekovsky, K., additional, Pedersen, H.B., additional, Pedrotti, M.-L., additional, Peeken, I., additional, Peeters, D., additional, Peeters, E., additional, Pellegrini, D., additional, Perales, J.A., additional, Perez, E., additional, Perz, V., additional, Petit, S., additional, Pflieger, M., additional, Pham, C.K., additional, Piazza, V., additional, Pinto, M., additional, Planells, O., additional, Plaza, M., additional, Pompini, O., additional, Potthoff, A., additional, Prades, L., additional, Primpke, S., additional, Proietti, M., additional, Proskurowski, G., additional, Puig, C., additional, Pujo-Pay, M., additional, Pullerits, K., additional, Queirós, A.M., additional, Quinn, B., additional, Raimonds, E., additional, Ramis-Pujol, J., additional, Rascher-Friesenhausen, R., additional, Reardon, E., additional, Regoli, F., additional, Reichardt, A.M., additional, Reifferscheid, G., additional, Reilly, K., additional, Reisser, J., additional, Riba, I., additional, Ribitsch, D., additional, Rinnert, E., additional, Rios, N., additional, Rist, S.E., additional, Rivadeneira, M.M., additional, Rivière, G., additional, Robbens, J., additional, Robertson, C.J.R., additional, Rocher, V., additional, Rochman, C.M., additional, Rodrigues, M., additional, Rodriguez, Y., additional, Rodríguez, A., additional, Rodríguez, G., additional, Rodríguez, J.R.B., additional, Rodríguez, S., additional, Rodríguez, Y., additional, Rogan, E., additional, Rojo-Nieto, E., additional, Romeo, T., additional, Ross, P.S., additional, Roveta, A., additional, Rowland, S.J., additional, Ruckstuhl, N.A., additional, Ruiz-Fernández, A-C., additional, Ruiz-Orejón, L.F., additional, Runge, J., additional, Russell, M., additional, Saavedra, C., additional, Saborowski, R., additional, Sahin, B.E., additional, Sailley, S., additional, Sakaguchi-Söder, K., additional, Salaverria, I., additional, Sánchez-Arcilla, A., additional, Sánchez-Nieva, J., additional, Sanderson, W., additional, Santana-Rodríguez, J.J., additional, Santana-Viera, S., additional, Santos, M.B., additional, Santos, M.R., additional, Sanz, M.R., additional, Sardá, R., additional, Savelli, H., additional, Schoeneich-Argent, R., additional, Scholz-Böttcher, B.M., additional, Sciacca, F., additional, Scofield, R.P., additional, Setälä, O., additional, Selenius, M., additional, Sempere, R., additional, Senturk, Y., additional, Shashoua, Y., additional, Sherman, P., additional, Sick, C., additional, Siegel, D., additional, Sierra, J.P., additional, Silva, F., additional, Silvestri, C., additional, Sintija, G., additional, Sire, O., additional, Slat, B., additional, Smit, A., additional, Sobral, P., additional, Sorvari, J., additional, Sosa-Ferrera, Z., additional, Sotillo, M.G., additional, Soudant, P., additional, Speidel, L., additional, Spurgeon, D.J., additional, Steer, M.K., additional, Steindal, C.C., additional, Stifanese, R., additional, Štindlová, A., additional, Stuurman, L., additional, Suaria, G., additional, Suazo, C.G., additional, Sureda, A., additional, Surette, C., additional, Svendsen, C., additional, Syberg, K., additional, Tairova, Z., additional, Talvitie, J., additional, Tassin, B., additional, Tazerout, M., additional, Tekman, M.B., additional, ter Halle, A., additional, Thiel, M., additional, Thomas, K.V., additional, Thompson, R.C., additional, Tinkara, T., additional, Tirelli, V., additional, Tomassetti, P., additional, Toorman, E., additional, Toppe, J., additional, Tornambè, A., additional, Torres, R., additional, Torres-Padrón, M.E., additional, Underwood, A.J., additional, Urbina, M., additional, Usategui-Martín, A., additional, Usta, R., additional, Valdés, L., additional, Valente, A., additional, Valentina, T., additional, van Arkel, K., additional, Van Colen, C., additional, Van Der Hal, N., additional, van Franeker, J.A., additional, Van Herwerden, L., additional, Van Loosdrecht, M., additional, van Oyen, A., additional, Vandeperre, F., additional, Vanderlinden, J-P., additional, Vani, D., additional, Vasconcelos, L., additional, Vega-Moreno, D., additional, Ventero, A., additional, Vethaak, A.D., additional, Vianello, A., additional, Vicioso, M., additional, Vieira, L.R., additional, Viršek, M.K., additional, Vos, M., additional, Wahl, M., additional, Wallace, N., additional, Walton, A., additional, Waniek, J.J., additional, Watts, A., additional, Webster, L., additional, Wesch, C., additional, Whitfield, E., additional, Wichels, A., additional, Wieczorek, A.M., additional, Wilcox, C., additional, Williams, R.J., additional, Wong-Wah-Chung, P., additional, Wright, S., additional, Wyles, K.J., additional, Young, R., additional, Yurtsever, M., additional, Yurtsever, U., additional, Zada, L., additional, Zamani, N.P., additional, and Zampetti, G., additional
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- 2017
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9. Presence and Abundance of Microplastics in Sediments of Tributaries of the River Thames, UK
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Horton, A.A., primary, Svendsen, C., additional, Williams, R.J., additional, Spurgeon, D.J., additional, and Lahive, E., additional
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- 2017
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10. Mifepristone-inducible transgene expression in neural progenitor cells in vitro and in vivo
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Hjelm, B E, Grunseich, C, Gowing, G, Avalos, P, Tian, J, Shelley, B C, Mooney, M, Narwani, K, Shi, Y, Svendsen, C N, Wolfe, J H, Fischbeck, K H, and Pierson, T M
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- 2016
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11. Recent Advances in Stem Cell Neurobiology
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Ostenfeld, T., Svendsen, C. N., Pickard, J. D., editor, Dolenc, V. V., editor, Lobo Antunes, J., editor, Reulen, JH.-J., editor, Sindou, M., editor, Strong, A. J., editor, de Tribolet, N., editor, Tulleken, C. A. F., editor, and Vapalahti, M., editor
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- 2003
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12. The bioaccumulation testing strategy for nanomaterials: correlations with particle properties and a meta-analysis of in vitro fish alternatives to in vivo fish tests
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Handy, R.D., Clark, N.J., Boyle, D., Vassallo, J., Green, C., Nasser, F., Botha, T.L., Wepener, V., van den Brink, N.W., Svendsen, C., Handy, R.D., Clark, N.J., Boyle, D., Vassallo, J., Green, C., Nasser, F., Botha, T.L., Wepener, V., van den Brink, N.W., and Svendsen, C.
- Abstract
For manufactured nanomaterials (MNs), given the breadth of forms produced, it is not ethical or practical to test all materials using vertebrates. This study aimed to show how alternative methods could predict the in vivo bioaccumulation potential of MNs in fish. This included exploring the physico-chemical properties of MNs as predictors of bioaccumulation, using the ex vivo gut sac technique to measure total metal uptake, and an in chemico digestibility assay to simulate the bioaccessible metal in the gut lumen of fish. An apparent plateau in net metal accumulation by rainbow trout was evident from data on dietary exposures to CuO nanoparticles (NPs), Ag NPs or Ag2S NPs in vivo. From the metal concentrations in the tissues compared to the diet, it was possible to derive nano biomagnification factors (nBMFs). The nBMF for the liver showed the best correlations with the physico-chemical parameters, with a significant correlation to the particle dissolution rate (Spearman's correlation, p < 0.01). Moreover, there was a significant relationship between the total metal released in the stomach compartment of the digestibility assay and the total metal concentration in the liver of trout in vivo (Pearson's correlation coefficient, p = 0.02), suggesting the in chemico digestibility assay can predict bioaccumulation potential. The ex vivo gut sac technique also gave good correlations to in vivo results, with r2 values between 0.8–0.9. In conclusion, the meta-analyses supports the development of an integrated and tiered approach to bioaccumulation testing that considers the 3Rs (replacement, reduction, refinement) and minimises the use of the fish bioaccumulation test (OECD TG 305), for nanomaterials.
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- 2022
13. Invited Commentary: Treatment of Diseases of the Central Nervous System Using Encapsulated Cells, by A. F. Hottinger and P. Aebischer (Advances and Technical Standards in Neurosurgery Vol. 25)
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Rosser, A. E., Ostenfeld, T., Svendsen, C. N., Cohadon, F., editor, Dolenc, V. V., editor, Antunes, J. Lobo, editor, Pickard, J. D., editor, Reulen, H.-J., editor, Sindou, M., editor, Strong, A. J., editor, de Tribolet, N., editor, Tulleken, C. A. F., editor, and Vapalahti, M., editor
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- 2000
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14. Sources of Cells for Transplantation and Gene Therapy in Parkinson’s Disease
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Dunnett, S. B., Annett, L. E., Kendall, A. L., Rosser, A. E., Watts, C., Svendsen, C. N., Teelken, Albert, editor, and Korf, Jaap, editor
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- 1997
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15. The bioaccumulation testing strategy for nanomaterials: correlations with particle properties and a meta-analysis of in vitro fish alternatives to in vivo fish tests
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Handy, R. D., primary, Clark, N. J., additional, Boyle, D., additional, Vassallo, J., additional, Green, C., additional, Nasser, F., additional, Botha, T. L., additional, Wepener, V., additional, van den Brink, N. W., additional, and Svendsen, C., additional
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- 2022
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16. Monoamine concentrations in Hydra magnipapillata
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Takeda, N., Svendsen, C. N., Dumont, H. J., editor, Williams, R. B., editor, Cornelius, P. F. S., editor, Hughes, R. G., editor, and Robson, E. A., editor
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- 1991
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17. Subcortical Changes Following Ischaemic and Other Lesions of Cerebral Cortical Structures: Trophic Mechanisms and Neuronal Degeneration
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Sofroniew, M. V., Svendsen, C. N., Hartmann, Alexander, editor, Kuschinsky, Wolfgang, editor, and Hoyer, Siegfried, editor
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- 1991
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18. Changes in Basal Forebrain Cholinergic Systems Following Excitotoxic Cell Death in the Hippocampus and Cerebral Neocortex
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Sofroniew, M. V., Svendsen, C. N., Isacson, O., Nagatsu, Toshiharu, editor, Fisher, Abraham, editor, and Yoshida, Mitsuo, editor
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- 1990
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19. The bioaccumulation testing strategy for manufactured nanomaterials: physico-chemical triggers and read across from earthworms in a meta-analysis
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Handy, R.D., Clark, N.J., Vassallo, J., Green, C., Nasser, F., Tatsi, K., Hutchinson, T.H., Boyle, D., Baccaro, M., van den Brink, N., Svendsen, C., Handy, R.D., Clark, N.J., Vassallo, J., Green, C., Nasser, F., Tatsi, K., Hutchinson, T.H., Boyle, D., Baccaro, M., van den Brink, N., and Svendsen, C.
- Abstract
Little is known about the bioaccumulation potential of manufactured nanomaterials (MNs). For traditional chemicals, the Organisation for Economic Co-operation and Development (OECD) Test Guideline (TG) 305, bioaccumulation in fish is often used. However, for MNs, there are no approved processes to trigger or waive this test, or consider alternatives to vertebrate animals. The aim of the present study was to conduct a meta-analysis of existing data sets on particle properties and bioaccumulation in earthworms to understand what particle metrics could be used as a trigger for bioaccumulation testing. An apparent steady state tissue concentration of metal from MNs exposure in the earthworm (Eisenia fetida) was evident following exposures to Ag nanoparticles (NPs), CuO NPs and CdTe quantum dots (QDs). This allowed the derivation of nano bioaccumulation factors (nBAFs), calculated using soil and earthworm tissue metal concentrations. A prediction equation using all the particle metrics correlated with BAFs was possible. Similarly, nano biomagnification factors (nBMFs) were calculated in the rainbow trout (Oncorhynchus mykiss) tissue, relative to the concentration of total metals in the fish diet. Pearson's correlations were found to be significant, with p < 0.05 for nBMFs for the liver, mid intestine, hind intestine and kidney relative to the earthworm tissue nBAFs. Together these data indicate that bioaccumulation measurements in earthworms for metallic MNs could be predictive of those values in fish, and that there is scope to predict the bioaccumulation potential of MNs with confidence from a few simple particle metrics.
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- 2021
20. A kinetic approach for assessing the uptake of Ag from pristine and sulfidised Ag nanomaterials to plants
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Lahive, E., Schultz, C., Van Gestel, C.A.M., Robinson, A., Horton, A.A., Spurgeon, D.J., Svendsen, C., Busquets‐Fité, M., Matzke, M., Green Etxabe, A., Lahive, E., Schultz, C., Van Gestel, C.A.M., Robinson, A., Horton, A.A., Spurgeon, D.J., Svendsen, C., Busquets‐Fité, M., Matzke, M., and Green Etxabe, A.
- Abstract
Nanomaterials (NMs) are thermodynamically unstable by nature and exposure of soil organisms to NMs in the terrestrial environment cannot be assumed constant. Thus, steady‐state conditions may not apply to NMs and bioaccumulation modelling for uptake should follow a dynamic approach. The one‐compartment model allows the uptake and elimination of a chemical to be determined, while also permitting changes in exposure and growth to be taken into account. The aim of this study was to investigate the accumulation of Ag from different Ag NM types (20 nm Ag0NMs, 50 nm Ag0NMs and 25 nm Ag2S NMs) in the crop plant, wheat (Triticum aestivum). Seeds were emerged in contaminated soils (3 or 10 mg Ag/kg dry soil, nominal) and plants grown for up to 42 days post‐emergence. Plant roots and shoots were collected after 1, 7, 14, 21 and 42 days post‐emergence and total Ag measured. Soil porewater Ag concentrations were also measured at each sampling time. Using the plant growth rates in the different treatments and the changing porewater concentrations as parameters, the one‐compartment model was used to estimate the uptake and elimination of Ag from the plant tissues. The best fit of the model to the data included growth rate and porewater concentration decline, while showing elimination of Ag to be close to zero. Uptake was highest for Ag0NMs and size did not influence their uptake rates. Accumulation of Ag from Ag2S NMs was lower, reflected by the lower porewater concentrations.
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- 2021
21. A metabolomics based test of independent action and concentration addition using the earthworm Lumbricus rubellus
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Baylay, A. J., Spurgeon, D. J., Svendsen, C., Griffin, J. L., Swain, Suresh C., Sturzenbaum, Stephen R., and Jones, O. A. H.
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- 2012
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22. A Kinetic Approach for Assessing the Uptake of Ag from Pristine and Sulfidized Ag Nanomaterials to Plants
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Lahive, E., primary, Schultz, C.L., additional, Van Gestel, C.A.M., additional, Robinson, A., additional, Horton, A.A., additional, Spurgeon, D.J., additional, Svendsen, C., additional, Busquets‐Fité, M., additional, Matzke, M., additional, and Green Etxabe, A., additional
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- 2021
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23. Human neural progenitors deliver glial cell line-derived neurotrophic factor to parkinsonian rodents and aged primates
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Behrstock, S, Ebert, A, McHugh, J, Vosberg, S, Moore, J, Schneider, B, Capowski, E, Hei, D, Kordower, J, Aebischer, P, and Svendsen, C N
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- 2006
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24. The bioaccumulation testing strategy for manufactured nanomaterials: physico-chemical triggers and read across from earthworms in a meta-analysis
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Handy, R. D., primary, Clark, N. J., additional, Vassallo, J., additional, Green, C., additional, Nasser, F., additional, Tatsi, K., additional, Hutchinson, T. H., additional, Boyle, D., additional, Baccaro, M., additional, van den Brink, N., additional, and Svendsen, C., additional
- Published
- 2021
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25. Assessment of a 2,4,6-Trinitrotoluene–Contaminated Site Using Aporrectodea rosea and Eisenia andrei in Mesocosms
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Robidoux, P.Y., Svendsen, C., Sarrazin, M., Thiboutot, S., Ampleman, G., Hawari, J., Weeks, J.M., and Sunahara, G. I.
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- 2004
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26. The first attempt of an active integrated laboratory-based Salmonella surveillance programme in the north-eastern region of Nigeria
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Raufu, I., Bortolaia, V., Svendsen, C. A., Ameh, J. A., Ambali, A. G., Aarestrup, F. M., and Hendriksen, R. S.
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- 2013
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27. Bariatric surgery and endometrial pathology in asymptomatic morbidly obese women: a prospective, pilot study
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Argenta, P A, Kassing, M, Truskinovsky, A M, and Svendsen, C A
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- 2013
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28. Contaminants in organic and conventional food: the missing link between contaminant levels and health effects.
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Svendsen, C., primary, Ragas, A. M. J., additional, and Dorne, J. L. C. M., additional
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- 2008
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29. USING STEM CELLS TO TREAT AND MODEL HUNTINGTONʼS DISEASE
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Svendsen, C
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- 2009
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30. Heredity in sarcoidosis: a registry-based twin study
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Sverrild, A, Backer, V, Kyvik, K O, Kaprio, J, Milman, N, Svendsen, C B, and Thomsen, S F
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- 2008
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31. Radical cation of N,N-dimethylpiperazine: dramatic structural effects of orbital interactions through bonds
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Brouwer, A.M., Zwier, J.M., Svendsen, C., Mortensen, O.S., Langkilde, F.W., and Wilbrandt, R.
- Subjects
Piperazine -- Research ,Molecular orbitals -- Research ,Intermolecular forces -- Research ,Chemical bonds -- Research ,Cations -- Research ,Chemistry - Abstract
The radical cation of N,N-dimethylpiperazine (DMP) was investigated since its molecule exhibited minimal splittings in the single pair ionization energies because of unfavorable geometry for orbital interactions through bonds. The molecule was studied utilizing time-resolved optical absorption and resonance Raman spectroscopy. It was established that an extensive geometry reorganization happened in DMP after ionization due to the negativity of the neutral molecular structure for through-bond interaction.
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- 1998
32. Increased survival of rat EGF-generated CNS precursor cells using B27 supplemented medium
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Svendsen, C. N., Fawcett, J. W., Bentlage, C., and Dunnett, S. B.
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- 1995
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33. Investigating combined toxicity of binary mixtures in bees: Meta-analysis of laboratory tests, modelling, mechanistic basis and implications for risk assessment
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Carnesecchi, E., Svendsen, C., Lasagni, S., Grech, A., Quignot, N., Amzal, B., Toma, C., Tosi, S., Rortais, A., Cortinas-Abrahantes, J., Capri, E., Kramer, N., Benfenati, E., Spurgeon, D., Guillot, G., Dorne, J. L. C. M., Capri E. (ORCID:0000-0003-0894-1991), Carnesecchi, E., Svendsen, C., Lasagni, S., Grech, A., Quignot, N., Amzal, B., Toma, C., Tosi, S., Rortais, A., Cortinas-Abrahantes, J., Capri, E., Kramer, N., Benfenati, E., Spurgeon, D., Guillot, G., Dorne, J. L. C. M., and Capri E. (ORCID:0000-0003-0894-1991)
- Abstract
Bees are exposed to a wide range of multiple chemicals “chemical mixtures” from anthropogenic (e.g. plant protection products or veterinary products) or natural origin (e.g. mycotoxins, plant toxins). Quantifying the relative impact of multiple chemicals on bee health compared with other environmental stressors (e.g. varroa, viruses, and nutrition) has been identified as a priority to support the development of holistic risk assessment methods. Here, extensive literature searches and data collection of available laboratory studies on combined toxicity data for binary mixtures of pesticides and non-chemical stressors has been performed for honey bees (Apis mellifera), wild bees (Bombus spp.) and solitary bee species (Osmia spp.). From 957 screened publications, 14 publications provided 218 binary mixture toxicity data mostly for acute mortality (lethal dose: LD50) after contact exposure (61%), with fewer studies reporting chronic oral toxicity (20%) and acute oral LC50 values (19%). From the data collection, available dose response data for 92 binary mixtures were modelled using a Toxic Unit (TU) approach and the MIXTOX modelling tool to test assumptions of combined toxicity i.e. concentration addition (CA), and interactions (i.e. synergism, antagonism). The magnitude of interactions was quantified as the Model Deviation Ratio (MDR). The CA model applied to 17% of cases while synergism and antagonism were observed for 72% (MDR > 1.25) and 11% (MDR < 0.83) respectively. Most synergistic effects (55%) were observed as interactions between sterol-biosynthesis-inhibiting (SBI) fungicides and insecticide/acaricide. The mechanisms behind such synergistic effects of binary mixtures in bees are known to involve direct cytochrome P450 (CYP) inhibition, resulting in an increase in internal dose and toxicity of the binary mixture. Moreover, bees are known to have the lowest number of CYP copies and other detoxification enzymes in the insect kingdom. In the light of these
- Published
- 2019
34. Human neural stem cells: a new tool for studying cortical development in Downʼs syndrome
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Bhattacharyya, A. and Svendsen, C. N.
- Published
- 2003
35. The bioaccumulation testing strategy for nanomaterials: correlations with particle properties and a meta-analysis of in vitrofish alternatives to in vivofish testsElectronic supplementary information (ESI) available. See DOI: 10.1039/d1en00694k
- Author
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Handy, R. D., Clark, N. J., Boyle, D., Vassallo, J., Green, C., Nasser, F., Botha, T. L., Wepener, V., van den Brink, N. W., and Svendsen, C.
- Abstract
For manufactured nanomaterials (MNs), given the breadth of forms produced, it is not ethical or practical to test all materials using vertebrates. This study aimed to show how alternative methods could predict the in vivobioaccumulation potential of MNs in fish. This included exploring the physico-chemical properties of MNs as predictors of bioaccumulation, using the ex vivogut sac technique to measure total metal uptake, and an in chemicodigestibility assay to simulate the bioaccessible metal in the gut lumen of fish. An apparent plateau in net metal accumulation by rainbow trout was evident from data on dietary exposures to CuO nanoparticles (NPs), Ag NPs or Ag2S NPs in vivo. From the metal concentrations in the tissues compared to the diet, it was possible to derive nano biomagnification factors (nBMFs). The nBMF for the liver showed the best correlations with the physico-chemical parameters, with a significant correlation to the particle dissolution rate (Spearman's correlation, p< 0.01). Moreover, there was a significant relationship between the total metal released in the stomach compartment of the digestibility assay and the total metal concentration in the liver of trout in vivo(Pearson's correlation coefficient, p= 0.02), suggesting the in chemicodigestibility assay can predict bioaccumulation potential. The ex vivogut sac technique also gave good correlations to in vivoresults, with r2values between 0.8–0.9. In conclusion, the meta-analyses supports the development of an integrated and tiered approach to bioaccumulation testing that considers the 3Rs (replacement, reduction, refinement) and minimises the use of the fish bioaccumulation test (OECD TG 305), for nanomaterials.
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- 2022
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36. Changes in Basal Forebrain Cholinergic Systems Following Excitotoxic Cell Death in the Hippocampus and Cerebral Neocortex
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Sofroniew, M. V., primary, Svendsen, C. N., additional, and Isacson, O., additional
- Published
- 1990
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37. SOURCES OF CELLS FOR TRANSPLANTATION AND GENE THERAPY IN PARKINSON'S DISEASE
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Dunnett, S. B., Annett, L. E., Svendsen, C. N, and Rosser, A. E.
- Published
- 1996
38. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
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Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., Landers, John E., Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
- Abstract
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS. Using a large-scale genome-wide association study and exome sequencing, we identified KIF5A as a novel gene associated with ALS. Our data broaden the phenotype resulting from mutations in KIF5A and highlight the importance of cytoskeletal defects in the pathogenesis of ALS.
- Published
- 2018
39. Quality evaluation of human and environmental toxicity studies performed with nanomaterials – the GUIDEnano approach
- Author
-
Fernández-Cruz, M.L., Hernández-Moreno, D., Catalán, J., Cross, R.K., Stockmann-Juvala, H., Cabellos, J., Lopes, Viviana R., Matzke, M., Ferraz, N., Izquierdo, J.J., Navas, J.M., Park, M., Svendsen, C., Janer, G., Fernández-Cruz, M.L., Hernández-Moreno, D., Catalán, J., Cross, R.K., Stockmann-Juvala, H., Cabellos, J., Lopes, Viviana R., Matzke, M., Ferraz, N., Izquierdo, J.J., Navas, J.M., Park, M., Svendsen, C., and Janer, G.
- Abstract
The European Union FP-7 project GUIDEnano developed a web-based guidance tool, which guides users to assess human and environmental risks of nanomaterial-enabled products throughout their life cycle. One of the aims in the GUIDEnano hazard assessment strategy is to derive safety limit values based on existing human toxicity and ecotoxicological studies. Clear criteria needed to be established to select studies that could be used for such purpose. In the present paper, we present an approach for a systematical and quantitative evaluation of the quality of environmental and human toxicity studies performed with nanomaterials. The approach builds upon previous initiatives and includes refinements to facilitate its application by users with limited toxicological expertise. It covers in vivo and in vitro human toxicity studies as well as ecotoxicological studies addressing the toxicity to all environmental compartments. A scoring system related to test design and reporting considerations was developed following the principles of the Klimisch score (K score). In addition, the approach includes a scoring system based on the physicochemical properties that have been characterized and reported for the nanomaterial, including properties characterized in the exposure medium (S score). These two scores (K and S) are combined to obtain an overall quality score (Q score) that can be used to select studies, to weight different studies, and/or to introduce uncertainty factors in the risk assessment process. During its development, the approach has been tested and refined with 137 peer-reviewed articles. The final quality assessment approach and the results of its evaluation are presented here.
- Published
- 2018
40. Quality evaluation of human and environmental toxicity studies performed with nanomaterials-the GUIDEnano approach
- Author
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Ferraz, Natalia [0000-0002-0202-2401], Fernández-Cruz, M. L., Hernández Moreno, David, Catalán, Jaime, Cross, R. K., Stockmann-Juvala, H., Cabellos, Joan, Lopes, V. R., Matzke, M., Ferraz, Natalia, Izquierdo, Juán J., Navas Antón, José María, Park, M., Svendsen, C., Janer, G., Ferraz, Natalia [0000-0002-0202-2401], Fernández-Cruz, M. L., Hernández Moreno, David, Catalán, Jaime, Cross, R. K., Stockmann-Juvala, H., Cabellos, Joan, Lopes, V. R., Matzke, M., Ferraz, Natalia, Izquierdo, Juán J., Navas Antón, José María, Park, M., Svendsen, C., and Janer, G.
- Abstract
The European Union FP-7 project GUIDEnano developed a web-based guidance tool, which guides users to assess human and environmental risks of nanomaterial-enabled products throughout their life cycle. One of the aims in the GUIDEnano hazard assessment strategy is to derive safety limit values based on existing human toxicity and ecotoxicological studies. Clear criteria needed to be established to select studies that could be used for such purpose. In the present paper, we present an approach for a systematical and quantitative evaluation of the quality of environmental and human toxicity studies performed with nanomaterials. The approach builds upon previous initiatives and includes refinements to facilitate its application by users with limited toxicological expertise. It covers in vivo and in vitro human toxicity studies as well as ecotoxicological studies addressing the toxicity to all environmental compartments. A scoring system related to test design and reporting considerations was developed following the principles of the Klimisch score (K score). In addition, the approach includes a scoring system based on the physicochemical properties that have been characterized and reported for the nanomaterial, including properties characterized in the exposure medium (S score). These two scores (K and S) are combined to obtain an overall quality score (Q score) that can be used to select studies, to weight different studies, and/or to introduce uncertainty factors in the risk assessment process. During its development, the approach has been tested and refined with 137 peer-reviewed articles. The final quality assessment approach and the results of its evaluation are presented here.
- Published
- 2018
41. Harmonised risk assessment for human health, animal health and ecological risk assessment of combined exposure to multiple chemicals:a food and feed safety perspective
- Author
-
Dorne, J. -L. C. M., Benford, D., Ragas, A., Posthuma, L., Kass, G. E., Manini, P., Dujardin, B., Benfenati, E., Hardy, A., Testai, E., Castle, L., Svendsen, C., Bennekou, S., Laskowski, R., Solecki, R., Leblanc, J. C., Kortenkamp, A., Kille, P., Price, P., Backhaus, T., Cedergreen, N., Hogstrand, C., Dorne, J. -L. C. M., Benford, D., Ragas, A., Posthuma, L., Kass, G. E., Manini, P., Dujardin, B., Benfenati, E., Hardy, A., Testai, E., Castle, L., Svendsen, C., Bennekou, S., Laskowski, R., Solecki, R., Leblanc, J. C., Kortenkamp, A., Kille, P., Price, P., Backhaus, T., Cedergreen, N., and Hogstrand, C.
- Published
- 2018
42. An explorative study of the practice of light trapping and the informal market for crickets in Cambodia
- Author
-
Münke-Svendsen, C., Ao, V., Lach, T., Chamnan, C., Hjortsø, Carsten Nico Portefée, Roos, Nanna, Münke-Svendsen, C., Ao, V., Lach, T., Chamnan, C., Hjortsø, Carsten Nico Portefée, and Roos, Nanna
- Abstract
Edible insects are an integrated part of the food sector in many South-East Asian countries. While the majority of studies focus on Thailand and its cricket farming sector, neighbouring countries like Cambodia and Laos also form a regional market for edible insects. The aim of this research was to describe the informal food sector for wild caught crickets in Cambodia. The information was collected in April-May 2012. Information on collection equipment and techniques, processing and trade were obtained from light trap owners, traders, market vendors and governmental representatives. Five cricket species were identified to be the main trade object. Cricket trapping contributed to livelihoods of rural households operating in a self-governing market. As the crickets are caught from the wild, the sustainability of the market has to be questioned. The use of a framework to structure future studies on edible insects in South-East Asia is discussed. Insect trapping and trading is not institutionally anchored as either agriculture or fisheries – or another sector – and provides an interesting case of a food market operating in between the institutionalised sectors., Edible insects are an integrated part of the food sector in many South-East Asian countries. While the majority of studies focus on Thailand and its cricket farming sector, neighbouring countries like Cambodia and Laos also form a regional market for edible insects. The aim of this research was to describe the informal food sector for wild caught crickets in Cambodia. The information was collected in April-May 2012. Information on collection equipment and techniques, processing and trade were obtained from light trap owners, traders, market vendors and governmental representatives. Five cricket species were identified to be the main trade object. Cricket trapping contributed to livelihoods of rural households operating in a self-governing market. As the crickets are caught from the wild, the sustainability of the market has to be questioned. The use of a framework to structure future studies on edible insects in South-East Asia is discussed. Insect trapping and trading is not institutionally anchored as either agriculture or fisheries – or another sector – and provides an interesting case of a food market operating in between the institutionalised sectors.
- Published
- 2018
43. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- Author
-
Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., Shankaracharya, Smith, B. N., Marangi, Giuseppe, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I. L., Logroscino, Giandomenico, Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M. G., Floris, G., Cannas, A., Capasso, Monica, Caponnetto, C., Mancardi, G., Origone, P., Mandich, P., Conforti, F. L., Cavallaro, S., Mora, G., Marinou, K., Sideri, R., Penco, S., Mosca, Luigi, Lunetta, C., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Mandrioli, J., Fini, N., Fasano, Alfonso, Tremolizzo, L., Arosio, A., Ferrarese, C., Trojsi, F., Tedeschi, G., Monsurro, M. R., Piccirillo, G., Femiano, C., Ticca, A., Ortu, E., La Bella, V., Spataro, R., Colletti, T., Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, M., Petrucci, A., Pugliatti, M., Pirisi, A., Parish, L. D., Occhineri, P., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Cau, T. B., Loi, D., Calvo, A., Moglia, C., Brunetti, M., Barberis, M., Restagno, G., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Canosa, A., Ilardi, A., Manera, U., Grassano, M., Tanel, R., Pisano, F., Mazzini, L., Messina, S., D'Alfonso, Sandra, Corrado, L., Ferrucci, L., Harms, M. B., Goldstein, D. B., Shneider, N. A., Goutman, S. A., Simmons, Z., Miller, T. M., Chandran, S., Pal, S., Manousakis, G., Appel, S. H., Simpson, E., Wang, L., Baloh, R. H., Gibson, S. B., Bedlack, R., Lacomis, D., Sareen, D., Sherman, A., Bruijn, L., Penny, M., Moreno, C. D. A. M., Kamalakaran, S., Allen, A. S., Boone, B. E., Brown, R. H., Carulli, J. P., Chesi, A., Chung, W. K., Cirulli, E. T., Cooper, G. M., Couthouis, J., Day-Williams, A. G., Dion, P. A., Gitler, A. D., Glass, J. D., Han, Y., Harris, T., Hayes, S. D., Jones, A. L., Keebler, J., Krueger, B. J., Lasseigne, B. N., Levy, S. E., Lu, Y. -F., Maniatis, T., McKenna-Yasek, D., Myers, R. M., Petrovski, S., Pulst, S. M., Raphael, A. R., Ravits, J. M., Ren, Z., Rouleau, G. A., Sapp, P. C., Sims, K. B., Staropoli, J. F., Waite, L. L., Wang, Quanquan, Wimbish, J. R., Xin, W. W., Phatnani, H., Kwan, J., Broach, J., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., Cox, G. A., Thompson, L. M., Finkbeiner, S., Dardiotis, E., Hornstein, E., Macgowan, D. J. L., Heiman-Patterson, T., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Nath, A., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Kaye, J., Wyman, S. K., Lenail, A., Lima, L., Rothstein, J. D., Svendsen, C. N., Van Eyk, J. E., Maragakis, N. J., Kolb, S. J., Cudkowicz, M., Baxi, E., Benatar, M., Taylor, J. P., Wu, G., Rampersaud, E., Wuu, J., Rademakers, R., Zuchner, S., Schule, R., Mccauley, J., Hussain, S., Cooley, A., Wallace, M., Clayman, C., Barohn, R., Statland, J., Swenson, A., Jackson, C., Trivedi, J., Khan, S., Katz, J., Jenkins, L., Burns, T., Gwathmey, K., Caress, J., Mcmillan, C., Elman, L., Pioro, E. P., Heckmann, J., So, Y., Walk, D., Maiser, S., Zhang, J., Silani, V., Gellera, C., Ratti, A., Taroni, F., Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Soraru, G., Cereda, C., De Marchi, F., Corti, S., Ceroni, M., Siciliano, Giovanni, Filosto, M., Inghilleri, M., Peverelli, S., Colombrita, C., Poletti, B., Maderna, L., Del Bo, R., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Camu, W., Mouzat, K., Lumbroso, S., Corcia, P., Meininger, V., Besson, G., Lagrange, E., Clavelou, P., Guy, N., Couratier, P., Vourch, P., Danel, V., Bernard, E., Lemasson, G., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, Vanna Maria, Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Polak, M., Asress, S., Al-Sarraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., ten Asbroek, A. L. M. A., Munoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, Francesco, Bowser, R., Kirby, J., Pamphlett, R., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Heiman-Patterson, T. D., Kamel, F., Van Den Bosch, L., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., Mclaughlin, R. L., Van Es, M. A., Weber, M., Boylan, K. B., Van Blitterswijk, M., Morrison, K. E., Basak, A. N., Mora, J. S., Drory, V. E., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Esteban-Perez, J., Garcia-Redondo, A., Al-Chalabi, A., Al Kheifat, A., Andersen, P. M., Chio, A., Cooper-Knock, J., Dekker, A., Redondo, A. G., Gotkine, M., Hide, W., Iacoangeli, A., Kiernan, M., Landers, J. E., Mill, J., Neto, M. M., Pardina, J. M., Newhouse, S., Pinto, S., Pulit, S., Robberecht, W., Shaw, C., Sproviero, W., Tazelaar, G., Van Damme, P., van den Berg, L. H., van Vugt, J., Veldink, J. H., Zatz, M., Bauer, D. C., Twine, N. A., Rogaeva, E., Zinman, L., Brice, A., Feldman, E. L., Ludolph, A. C., Weishaupt, J. H., Trojanowski, J. Q., Stone, D. J., Tienari, P., Shaw, C. E., Traynor, B. J., Marangi G. (ORCID:0000-0002-6898-8882), Logroscino G. (ORCID:0000-0003-1301-5343), Capasso M., Mosca L. (ORCID:0000-0003-4641-0841), Fasano A., Sabatelli M. (ORCID:0000-0001-6635-4985), Zollino M. (ORCID:0000-0003-4871-9519), Conte A., Luigetti M. (ORCID:0000-0001-7539-505X), Lattante S. (ORCID:0000-0003-2891-0340), D'Alfonso S., Siciliano G., Valori M., Landi F. (ORCID:0000-0002-3472-1389), Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., Shankaracharya, Smith, B. N., Marangi, Giuseppe, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I. L., Logroscino, Giandomenico, Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M. G., Floris, G., Cannas, A., Capasso, Monica, Caponnetto, C., Mancardi, G., Origone, P., Mandich, P., Conforti, F. L., Cavallaro, S., Mora, G., Marinou, K., Sideri, R., Penco, S., Mosca, Luigi, Lunetta, C., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Mandrioli, J., Fini, N., Fasano, Alfonso, Tremolizzo, L., Arosio, A., Ferrarese, C., Trojsi, F., Tedeschi, G., Monsurro, M. R., Piccirillo, G., Femiano, C., Ticca, A., Ortu, E., La Bella, V., Spataro, R., Colletti, T., Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, M., Petrucci, A., Pugliatti, M., Pirisi, A., Parish, L. D., Occhineri, P., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Cau, T. B., Loi, D., Calvo, A., Moglia, C., Brunetti, M., Barberis, M., Restagno, G., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Canosa, A., Ilardi, A., Manera, U., Grassano, M., Tanel, R., Pisano, F., Mazzini, L., Messina, S., D'Alfonso, Sandra, Corrado, L., Ferrucci, L., Harms, M. B., Goldstein, D. B., Shneider, N. A., Goutman, S. A., Simmons, Z., Miller, T. M., Chandran, S., Pal, S., Manousakis, G., Appel, S. H., Simpson, E., Wang, L., Baloh, R. H., Gibson, S. B., Bedlack, R., Lacomis, D., Sareen, D., Sherman, A., Bruijn, L., Penny, M., Moreno, C. D. A. M., Kamalakaran, S., Allen, A. S., Boone, B. E., Brown, R. H., Carulli, J. P., Chesi, A., Chung, W. K., Cirulli, E. T., Cooper, G. M., Couthouis, J., Day-Williams, A. G., Dion, P. A., Gitler, A. D., Glass, J. D., Han, Y., Harris, T., Hayes, S. D., Jones, A. L., Keebler, J., Krueger, B. J., Lasseigne, B. N., Levy, S. E., Lu, Y. -F., Maniatis, T., McKenna-Yasek, D., Myers, R. M., Petrovski, S., Pulst, S. M., Raphael, A. R., Ravits, J. M., Ren, Z., Rouleau, G. A., Sapp, P. C., Sims, K. B., Staropoli, J. F., Waite, L. L., Wang, Quanquan, Wimbish, J. R., Xin, W. W., Phatnani, H., Kwan, J., Broach, J., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., Cox, G. A., Thompson, L. M., Finkbeiner, S., Dardiotis, E., Hornstein, E., Macgowan, D. J. L., Heiman-Patterson, T., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Nath, A., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Kaye, J., Wyman, S. K., Lenail, A., Lima, L., Rothstein, J. D., Svendsen, C. N., Van Eyk, J. E., Maragakis, N. J., Kolb, S. J., Cudkowicz, M., Baxi, E., Benatar, M., Taylor, J. P., Wu, G., Rampersaud, E., Wuu, J., Rademakers, R., Zuchner, S., Schule, R., Mccauley, J., Hussain, S., Cooley, A., Wallace, M., Clayman, C., Barohn, R., Statland, J., Swenson, A., Jackson, C., Trivedi, J., Khan, S., Katz, J., Jenkins, L., Burns, T., Gwathmey, K., Caress, J., Mcmillan, C., Elman, L., Pioro, E. P., Heckmann, J., So, Y., Walk, D., Maiser, S., Zhang, J., Silani, V., Gellera, C., Ratti, A., Taroni, F., Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Soraru, G., Cereda, C., De Marchi, F., Corti, S., Ceroni, M., Siciliano, Giovanni, Filosto, M., Inghilleri, M., Peverelli, S., Colombrita, C., Poletti, B., Maderna, L., Del Bo, R., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Camu, W., Mouzat, K., Lumbroso, S., Corcia, P., Meininger, V., Besson, G., Lagrange, E., Clavelou, P., Guy, N., Couratier, P., Vourch, P., Danel, V., Bernard, E., Lemasson, G., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, Vanna Maria, Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Polak, M., Asress, S., Al-Sarraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., ten Asbroek, A. L. M. A., Munoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, Francesco, Bowser, R., Kirby, J., Pamphlett, R., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Heiman-Patterson, T. D., Kamel, F., Van Den Bosch, L., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., Mclaughlin, R. L., Van Es, M. A., Weber, M., Boylan, K. B., Van Blitterswijk, M., Morrison, K. E., Basak, A. N., Mora, J. S., Drory, V. E., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Esteban-Perez, J., Garcia-Redondo, A., Al-Chalabi, A., Al Kheifat, A., Andersen, P. M., Chio, A., Cooper-Knock, J., Dekker, A., Redondo, A. G., Gotkine, M., Hide, W., Iacoangeli, A., Kiernan, M., Landers, J. E., Mill, J., Neto, M. M., Pardina, J. M., Newhouse, S., Pinto, S., Pulit, S., Robberecht, W., Shaw, C., Sproviero, W., Tazelaar, G., Van Damme, P., van den Berg, L. H., van Vugt, J., Veldink, J. H., Zatz, M., Bauer, D. C., Twine, N. A., Rogaeva, E., Zinman, L., Brice, A., Feldman, E. L., Ludolph, A. C., Weishaupt, J. H., Trojanowski, J. Q., Stone, D. J., Tienari, P., Shaw, C. E., Traynor, B. J., Marangi G. (ORCID:0000-0002-6898-8882), Logroscino G. (ORCID:0000-0003-1301-5343), Capasso M., Mosca L. (ORCID:0000-0003-4641-0841), Fasano A., Sabatelli M. (ORCID:0000-0001-6635-4985), Zollino M. (ORCID:0000-0003-4871-9519), Conte A., Luigetti M. (ORCID:0000-0001-7539-505X), Lattante S. (ORCID:0000-0003-2891-0340), D'Alfonso S., Siciliano G., Valori M., and Landi F. (ORCID:0000-0002-3472-1389)
- Abstract
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS. Using a large-scale genome-wide association study and exome sequencing, we identified KIF5A as a novel gene associated with ALS. Our data broaden the phenotype resulting from mutations in KIF5A and highlight the importance of cytoskeletal defects in the pathogenesis of ALS.
- Published
- 2018
44. A Comparison of mRNA Sequencing with Random Primed and 3 '-Directed Libraries
- Author
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Xiong, Y, Soumillon, M, Wu, J, Hansen, J, Hu, B, van Hasselt, JGC, Jayaraman, G, Lim, R, Bouhaddou, M, Ornelas, L, Bochicchio, J, Lenaeus, L, Stocksdale, J, Shim, J, Gomez, E, Sareen, D, Svendsen, C, Thompson, LM, Mahajan, M, Iyengar, R, Sobie, EA, Azeloglu, EU, and Birtwistle, MR
- Published
- 2017
- Full Text
- View/download PDF
45. Complementary imaging of silver nanoparticle interactions with green algae: dark-field microscopy, electron microscopy, and nanoscale secondary ion mass spectrometry
- Author
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Sekine, R, Moore, KL, Matzke, M, Vallotton, P, Jiang, H, Hughes, GM, Kirby, JK, Donner, E, Grovenor, CRM, Svendsen, C, and Lombi, E
- Subjects
bio-nano interactions ,Chemistry ,Silver nanoparticles ,Multimodal imaging ,NanoSIMS ,dark-field light microscopy ,nanotoxicology ,Ecology and Environment - Abstract
Increasing consumer use of engineered nanomaterials has led to significantly increased efforts to understand their potential impact on the environment and living organisms. Currently, no individual technique can provide all the necessary information such as their size, distribution, and chemistry in complex biological systems. Consequently, there is a need to develop complementary instrumental imaging approaches that provide enhanced understanding of these “bio-nano” interactions to overcome the limitations of individual techniques. Here we used a multimodal imaging approach incorporating dark-field light microscopy, high-resolution electron microscopy, and nanoscale secondary ion mass spectrometry (NanoSIMS). The aim was to gain insight into the bio-nano interactions of surface-functionalized silver nanoparticles (Ag-NPs) with the green algae Raphidocelis subcapitata, by combining the fidelity, spatial resolution, and elemental identification offered by the three techniques, respectively. Each technique revealed that Ag-NPs interact with the green algae with a dependence on the size (10 nm vs 60 nm) and surface functionality (tannic acid vs branched polyethylenimine, bPEI) of the NPs. Dark-field light microscopy revealed the presence of strong light scatterers on the algal cell surface, and SEM imaging confirmed their nanoparticulate nature and localization at nanoscale resolution. NanoSIMS imaging confirmed their chemical identity as Ag, with the majority of signal concentrated at the cell surface. Furthermore, SEM and NanoSIMS provided evidence of 10 nm bPEI Ag-NP internalization at higher concentrations (40 μg/L), correlating with the highest toxicity observed from these NPs. This multimodal approach thus demonstrated an effective approach to complement dose–response studies in nano-(eco)-toxicological investigations., ACS Nano, 11 (11), ISSN:1936-0851, ISSN:1936-086X
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- 2017
- Full Text
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46. A novel multi-isotope tracer approach to test ZnO nanoparticle and soluble Zn bioavailability in joint soil exposures
- Author
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Laycock, A, Romero-Freire, A, Najorka, J, Svendsen, C, Van Gestel, CAM, Rehkamper, M, Natural Environment Research Council (NERC), Science and Technology Facilities Council (STFC), and Engineering & Physical Science Research Council (E
- Subjects
MD Multidisciplinary ,Environmental Sciences - Abstract
Here we use two enriched stable isotopes, 68Znen and 64Znen (>99%), to prepare 68ZnO nanoparticles (NPs) and soluble 64ZnCl2. The standard LUFA 2.2 test soil was dosed with 68ZnO NPs and soluble 64ZnCl2 to 5 mg kg-1 each, plus between 0 and 95 mg kg-1 of soluble ZnCl2 with a natural isotope composition. After 0, 1, 3, 6 and 12 months of soil incubation, earthworms (Eisenia andrei) were introduced for 72-hour exposures. Analyses of soils, pore waters and earthworm tissues using multiple collector ICP-MS allowed the simultaneous measurement of the diagnostic 68Zn/66Zn, 64Zn/66Zn and 68Zn/64Zn ratios, from which the three different isotopic forms of Zn were quantified. Eisenia andrei was able to regulate Zn body concentrations with no difference observed between the different total dosing concentrations. The accumulation of labelled Zn by the earthworms showed a direct relationship with the proportion of labelled to total Zn in the pore water, which increased with longer soil incubation times and decreasing soil pH. The 68Znen/64Znen ratios determined for earthworms (1.09 ± 0.04), soils (1.09 ± 0.02) and pore waters (1.08 ± 0.02) indicate indistinguishable environmental distribution and uptake of the Zn forms, most likely due to rapid dissolution of the ZnO NPs.
- Published
- 2017
47. Intraoperative subareolar technetium injection results in consistent sentinel lymph node identification
- Author
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Zogakis, T. G., Wetherille, R., Christensen, R., Ose, K., Friedman, J., Colbert, M., Svendsen, C., Sanan, O., and Tuttle, T.
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- 2004
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48. Harmonised risk assessment for human health, animal health and ecological risk assessment of combined exposure to multiple chemicals: a food and feed safety perspective
- Author
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Dorne, J.-L.C.M., primary, Benford, D., additional, Ragas, A., additional, Posthuma, L., additional, Kass, G.E., additional, Manini, P., additional, Dujardin, B., additional, Benfenati, E., additional, Hardy, A., additional, Testai, E., additional, Castle, L., additional, Svendsen, C., additional, Bennekou, S., additional, Laskowski, R., additional, Solecki, R., additional, Leblanc, J.C., additional, Kortenkamp, A., additional, Kille, P., additional, Price, P., additional, Backhaus, T., additional, Cedergreen, N., additional, and Hogstrand, C., additional
- Published
- 2018
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49. An explorative study of the practice of light trapping and the informal market for crickets in Cambodia
- Author
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Münke-Svendsen, C., primary, Ao, V., additional, Lach, T., additional, Chamnan, C., additional, Hjortsø, C.N., additional, and Roos, N., additional
- Published
- 2018
- Full Text
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50. Quality evaluation of human and environmental toxicity studies performed with nanomaterials – the GUIDEnano approach
- Author
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Fernández-Cruz, M. L., primary, Hernández-Moreno, D., additional, Catalán, J., additional, Cross, R. K., additional, Stockmann-Juvala, H., additional, Cabellos, J., additional, Lopes, Viviana R., additional, Matzke, M., additional, Ferraz, N., additional, Izquierdo, J. J., additional, Navas, J. M., additional, Park, M., additional, Svendsen, C., additional, and Janer, G., additional
- Published
- 2018
- Full Text
- View/download PDF
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