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27. Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

Author

Bonham, L.W. (Luke W.), Steele, N.Z.R. (Natasha Z. R.), Karch, C.M. (Celeste M.), Broce, I. (Iris), Geier, E.G. (Ethan G.), Wen, N.L. (Natalie L.), Momeni, P. (Parastoo), Hardy, J. (John), Miller, Z.A. (Zachary A.), Gorno-Tempini, M.L. (Maria Luisa), Hess, C.P. (Christopher P.), Lewis, P. (Patrick), Miller, B.L. (Bruce Lars), Seeley, W.W. (William W.), Manzoni, C. (Claudia), Desikan, R.S. (Rahul S.), Baranzini, S.E. (Sergio), Ferrari, R. (Raffaele), Yokoyama, J.S. (Jennifer S.), Hernandez, D.G. (Dena), Nalls, M.A. (Michael), Rohrer, J.D. (Jonathan), Ramasamy, A. (Adaikalavan), Kwok, J.B.J. (John), Dobson-Stone, C. (Carol), Schofield, P.R. (P. R.), Halliday, G.M. (Glenda Margaret), Hodges, J. (John), Piguet, O. (Olivier), Bartley, L. (Lauren), Thompson, E. (E.), Haan, E. (Eric), Hernández, I. (Isabel), Ruiz, A. (A.), Boada, M. (M.), Borroni, B. (Barbara), Padovani, A. (Alessandro), Cruchaga, C. (C.), Cairns, N.J. (Nigel), Benussi, L. (Luisa), Binetti, G. (Giuliano), Ghidoni, R. (R.), Forloni, G. (Gianluigi), Albani, D. (D.), Galimberti, D. (Daniela), Fenoglio, C. (Chiara), Serpente, M. (Maria), Scarpini, E. (E.), Clarimón, J. (J.), Lleo, A. (Alberto), Blesa, R. (Rafael), Landqvist Waldö, M. (M.), Nilsson, K. (K.), Nilsson, C. (Christer), Mackenzie, I.R.A. (Ian), Hsiung, G.Y.R. (Ging-Yuek), Mann, D.M.A. (D. M.A.), Grafman, J. (Jordan), Morris, C.M. (Chris), Attems, J. (Johannes), Griffiths, T.D. (Timothy), McKeith, I.G. (Ian), Thomas, A.W. (Alan), Pietrini, P. (P.), Huey, E.D. (Edward), Wassermann, E.M. (Eric), Baborie, A. (Atik), Jaros, J.A.J. (Julian), Tierney, M.C. (M. C.), Pastor, P. (P.), Razquin, C. (Cristina), Ortega-Cubero, S. (S.), Alonso, E. (E.), Perneczky, R. (Robert), Diehl-Schmid, J. (Janine), Alexopoulos, E.C. (Evangelos), Kurz, A., Rainero, I. (Innocenzo), Rubino, M. (Maurizio), Pinessi, L. (Lorenzo), Rogaeva, E. (Ekaterina), St. George-Hyslop, P. (Peter), Rossi, G. (G.), Tagliavini, F. (F.), Giaccone, G. (Giuseppe), Rowe, J.B. (James), Schlachetzki, J.C.M. (Johannes C.), Uphill, J. (James), Collinge, J. (J.), Mead, S. (S.), Danek, A. (A.), Deerlin, V.M. (Vivianna), Grossman, M. (Murray), Trojanowski, J.Q. (J. Q.), Zee, J. (Jill) van der, Cruts, M. (Marc), Broeckhoven, C. (Christine) van, Cappa, S.F. (Stefano), Leber, I. (Isabelle), Hannequin, D. (Didier), Golfier, V. (Véronique), Vercelletto, M. (Martine), Brice, A. (A.), Nacmias, B. (Benedetta), Sorbi, S. (Sandro), Bagnoli, S. (Silvia), Piaceri, I. (Irene), Nielsen, J.E. (J. E.), Hjermind, L.E. (Lena), Riemenschneider, M. (M.), Mayhaus, M. (Manuel), Ibach, B. (Bernd), Gasparoni, G. (Gilles), Pichler, I. (Irene), Gu, W. (W.), Rossor, M. (Martin), Fox, N.C. (Nick), Warren, J.D. (Jason), Spillantini, M.G., Morris, H. (Huw), Rizzu, P. (Patrizia), Heutink, P. (Peter), Snowden, J. (Julie), Rollinson, S. (Sara), Richardson, A. (Anna), Gerhard, A. (Alex), Bruni, A.C. (Amalia), Maletta, R. (Raffaele), Frangipane, F. (Francesca), Cupidi, C. (Chiara), Bernardi, L. (Livia), Anfossi, M. (Maria), Gallo, V. (Valentina), Conidi, A. (Andrea), Smirne, N. (Nicoletta), Rademakers, S. (Suzanne), Baker, M.C. (Matthew), Dickson, D. (Dennis), Graff-Radford, N.R. (Neill), Petersen, R.C. (R. C.), Knopman, D.S. (David), Josephs, K.A. (Keith), Boeve, B.F. (Bradley), Parisi, J.E. (Joseph), Karydas, A.M. (A. M.), Rosen, H. (H.), Swieten, J.C. (John) van, Dopper, E.G.P. (Elise), Seelaar, H. (H.), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Logroscino, G. (Giancarlo), Capozzo, R. (Rosa), Novelli, V. (Valeria), Puca, A.A. (Annibale), Franceschi, C. (Claudio), Postiglione, A. (Alfredo), Milan, D.J. (David), Sorrentino, D. (Dario), Kristiansen, M. (Mark), Chiang, Y.T., Graff, C. (C.), Pasquier, F. (Florence), Rollin, A. (A.), Deramecourt, V. (Vincent), Lebouvier, T. (T.), Kapogiannis, D. (Dimitrios), Ferrucci, L. (L.), Pickering-Brown, S. (Stuart), Singleton, A. (Andrew), Bonham, L.W. (Luke W.), Steele, N.Z.R. (Natasha Z. R.), Karch, C.M. (Celeste M.), Broce, I. (Iris), Geier, E.G. (Ethan G.), Wen, N.L. (Natalie L.), Momeni, P. (Parastoo), Hardy, J. (John), Miller, Z.A. (Zachary A.), Gorno-Tempini, M.L. (Maria Luisa), Hess, C.P. (Christopher P.), Lewis, P. (Patrick), Miller, B.L. (Bruce Lars), Seeley, W.W. (William W.), Manzoni, C. (Claudia), Desikan, R.S. (Rahul S.), Baranzini, S.E. (Sergio), Ferrari, R. (Raffaele), Yokoyama, J.S. (Jennifer S.), Hernandez, D.G. (Dena), Nalls, M.A. (Michael), Rohrer, J.D. (Jonathan), Ramasamy, A. (Adaikalavan), Kwok, J.B.J. (John), Dobson-Stone, C. (Carol), Schofield, P.R. (P. R.), Halliday, G.M. (Glenda Margaret), Hodges, J. (John), Piguet, O. (Olivier), Bartley, L. (Lauren), Thompson, E. (E.), Haan, E. (Eric), Hernández, I. (Isabel), Ruiz, A. (A.), Boada, M. (M.), Borroni, B. (Barbara), Padovani, A. (Alessandro), Cruchaga, C. (C.), Cairns, N.J. (Nigel), Benussi, L. (Luisa), Binetti, G. (Giuliano), Ghidoni, R. (R.), Forloni, G. (Gianluigi), Albani, D. (D.), Galimberti, D. (Daniela), Fenoglio, C. (Chiara), Serpente, M. (Maria), Scarpini, E. (E.), Clarimón, J. (J.), Lleo, A. (Alberto), Blesa, R. (Rafael), Landqvist Waldö, M. (M.), Nilsson, K. (K.), Nilsson, C. (Christer), Mackenzie, I.R.A. (Ian), Hsiung, G.Y.R. (Ging-Yuek), Mann, D.M.A. (D. M.A.), Grafman, J. (Jordan), Morris, C.M. (Chris), Attems, J. (Johannes), Griffiths, T.D. (Timothy), McKeith, I.G. (Ian), Thomas, A.W. (Alan), Pietrini, P. (P.), Huey, E.D. (Edward), Wassermann, E.M. (Eric), Baborie, A. (Atik), Jaros, J.A.J. (Julian), Tierney, M.C. (M. C.), Pastor, P. (P.), Razquin, C. (Cristina), Ortega-Cubero, S. (S.), Alonso, E. (E.), Perneczky, R. (Robert), Diehl-Schmid, J. (Janine), Alexopoulos, E.C. (Evangelos), Kurz, A., Rainero, I. (Innocenzo), Rubino, M. (Maurizio), Pinessi, L. (Lorenzo), Rogaeva, E. (Ekaterina), St. George-Hyslop, P. (Peter), Rossi, G. (G.), Tagliavini, F. (F.), Giaccone, G. (Giuseppe), Rowe, J.B. (James), Schlachetzki, J.C.M. (Johannes C.), Uphill, J. (James), Collinge, J. (J.), Mead, S. (S.), Danek, A. (A.), Deerlin, V.M. (Vivianna), Grossman, M. (Murray), Trojanowski, J.Q. (J. Q.), Zee, J. (Jill) van der, Cruts, M. (Marc), Broeckhoven, C. (Christine) van, Cappa, S.F. (Stefano), Leber, I. (Isabelle), Hannequin, D. (Didier), Golfier, V. (Véronique), Vercelletto, M. (Martine), Brice, A. (A.), Nacmias, B. (Benedetta), Sorbi, S. (Sandro), Bagnoli, S. (Silvia), Piaceri, I. (Irene), Nielsen, J.E. (J. E.), Hjermind, L.E. (Lena), Riemenschneider, M. (M.), Mayhaus, M. (Manuel), Ibach, B. (Bernd), Gasparoni, G. (Gilles), Pichler, I. (Irene), Gu, W. (W.), Rossor, M. (Martin), Fox, N.C. (Nick), Warren, J.D. (Jason), Spillantini, M.G., Morris, H. (Huw), Rizzu, P. (Patrizia), Heutink, P. (Peter), Snowden, J. (Julie), Rollinson, S. (Sara), Richardson, A. (Anna), Gerhard, A. (Alex), Bruni, A.C. (Amalia), Maletta, R. (Raffaele), Frangipane, F. (Francesca), Cupidi, C. (Chiara), Bernardi, L. (Livia), Anfossi, M. (Maria), Gallo, V. (Valentina), Conidi, A. (Andrea), Smirne, N. (Nicoletta), Rademakers, S. (Suzanne), Baker, M.C. (Matthew), Dickson, D. (Dennis), Graff-Radford, N.R. (Neill), Petersen, R.C. (R. C.), Knopman, D.S. (David), Josephs, K.A. (Keith), Boeve, B.F. (Bradley), Parisi, J.E. (Joseph), Karydas, A.M. (A. M.), Rosen, H. (H.), Swieten, J.C. (John) van, Dopper, E.G.P. (Elise), Seelaar, H. (H.), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Logroscino, G. (Giancarlo), Capozzo, R. (Rosa), Novelli, V. (Valeria), Puca, A.A. (Annibale), Franceschi, C. (Claudio), Postiglione, A. (Alfredo), Milan, D.J. (David), Sorrentino, D. (Dario), Kristiansen, M. (Mark), Chiang, Y.T., Graff, C. (C.), Pasquier, F. (Florence), Rollin, A. (A.), Deramecourt, V. (Vincent), Lebouvier, T. (T.), Kapogiannis, D. (Dimitrios), Ferrucci, L. (L.), Pickering-Brown, S. (Stuart), and Singleton, A. (Andrew) more...

Abstract

The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). Previous genetic studies of svPPA are limited by small sample sizes and a paucity of common risk variants. Despite this, svPPA’s relatively homogenous clinicopathologic phenotype makes it an ideal investigative model to examine genetic processes that may drive neurodegenerative disease. In this study, we used GWAS metadata, tissue samples from pathologically confirmed frontotemporal lobar degeneration, and in silico techniques to identify and characterize protein interaction networks associated with svPPA risk. We identified 64 svPPA risk genes that interact at the protein level. The protein pathways represented in this svPPA gene network are critical regulators of RNA metabolism more...

Published
2019
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35. Landslides in reservoirs and dam operation

Author

Alonso, E. E., Nuria Pinyol, Universitat Politècnica de Catalunya. Departament d'Enginyeria Civil i Ambiental, and Universitat Politècnica de Catalunya. MSR - Mecànica del Sòls i de les Roques

Subjects
Esllavissades, Landslide dams, Enginyeria civil::Geotècnia::Mecànica de sòls [Àrees temàtiques de la UPC]
Abstract

Risk of landslide ocurrence in reservoirs is enhanced by the submergence of the slope toe and by rapid drawdown conditions. Instabilities may endanger the dam itself. They may also lead to strong wave motion in the reservoir in case of rapid landsliding. The paper reviews a few recent cases of fast landslides into reservoirs. Two case studies are also presented in more detail. The first one refers to rapid drawdown. It is concluded that a proper analysis requires a coupled flow-deformation approach. The second case (Canelles landslide) describes the cause of first instability (rapid drawdown), the validation of the hydrologic model of the landslide and the thermal analysis of a rapid motion. Recent developments indicate that permeability in the vicinity of the sliding surface is a key parameter to decide the risk of rapid motion. The paper points out also the risk of slope instability associated with excavations required for dam construction (foundations, portals of diversion tunnels, spillway, etc). The paper provides a set of conclusions inspired in the review of case histories and in the analyses of real cases performed. more...

Published
2011
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40. On the definition of constitutive models for compacted soft rocks

Author

Rafaela Cardoso, Alonso, E. E., Universitat Politècnica de Catalunya. Departament d'Enginyeria del Terreny, Cartogràfica i Geofísica, and Universitat Politècnica de Catalunya. MSR - Mecànica del Sòls i de les Roques more...

Subjects
Model requirements, Portugal, Experimental test, Soft rocks, Enginyeria civil::Geotècnia::Mecànica de roques [Àrees temàtiques de la UPC], Rock mechanics--Portugal, Experimental studies, Mecànica de roques, Clayey materials, Hydro-mechanical, Rock fill materials, Large amplitude, Rock Fills
Abstract

This paper presents some results of an experimental study performed to characterize the hydro-mechanical behaviour of compacted marls from Abadia, Portugal. The main purpose of the study was to understand the effects of the degradation of the fragments on the global behaviour of the aggregate. The knowledge earned allowed the identification of the main factors to be considered in the definition of constitutive models for compacted soft rocks. From a general point of view, traditional unsaturated constitutive models are not adequate to reproduce the large amplitude of the deformations observed in experimental tests on samples of compacted marls. Models for hard rockfill materials are not adequate either because they are not able to reproduce the behaviour of the material after the strong degradation of the fragments. The comparison between the model requirements and those of existing models for clayey materials and rockfill is performed. Suggestions are made on possible modifications of some known existing models from the literature. more...

Published
2010

44. Near barrier fusion of weakly bound $^{6}Li$ and $^{7}Li$ nuclei with $^{59}Co$

Author

Beck, C, Souza, F A, Rowley, N, Sanders, S J, Aissaoui, N, Alonso, E E, Bednarczyk, P, Carlin, N, Courtin, S, Díaz-Torres, A, Dummer, A, Haas, F, Hachem,a, Hagino, K, Hoellinger, F, Janssens, R V F, Kintz, N, Liguori-Neto, R, Martin, E, Moura, M M, Munhoz, M G, Papka, P, Rousseau, M, Sánchez i Zafra, A, Stesowski, O, Suaide, A A P, Szanto, E M, Szanto de Toledo, A, Szilner, S, and Takahashi, J more...

Subjects
XX
Published
2003

45. Near-barrier fusion of weakly bound $^{6}$Li and $^{7}$Li nuclei with $^{59}$Co

Author

Beck, C., Souza, F. A., Rowley, N., Sanders, S. J., Aissaoui, N., Alonso, E. E., Bednarczyk, P., Carlin, N., Sandrine Courtin, Diaz-Torres, A., Dummer, A., Haas, F., Hachem, A., Hagino, K., Hoellinger, F., Janssens, R. V. F., Kintz, N., Liguori Neto, R., Martin, E., Moura, M. M., Munhoz, M. G., Papka, P., Marc Rousseau, Sanchez, I. Zafra A., Stezowski, O., Suaide, A. A., Szanto, E. M., Szanto Toledo, A., Szilner, S., Takahashi, J., Heyd, Yvette, Institut de Recherches Subatomiques (IReS), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Cancéropôle du Grand Est-Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Institut de Physique Nucléaire d'Orsay (IPNO), Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris-Sud - Paris 11 (UP11), and Université Paris-Sud - Paris 11 (UP11)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS) more...

Subjects
[PHYS.NEXP] Physics [physics]/Nuclear Experiment [nucl-ex], [PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex]
Abstract

Excitation functions for sub- and near-barrier total (complete + incomplete) fusion cross sections are presented for the [Formula Presented] reactions. Evaporation residues were identified by their characteristic [Formula Presented] rays and the corresponding yields measured with both the IReS Garel [Formula Presented] array at the Vivitron facility and with the São Paulo Ge array at the 8UD Pelletron tandem facility using standard γ-ray techniques. The data extend to medium-mass systems previous works exploring the coupling effects (hindrance versus enhancement) in fusion reactions of both lighter and heavier systems. The results indicate a small enhancement of total fusion for the more weakly bound [Formula Presented] at sub-barrier energies, with similar cross sections for both reactions at and above the barrier. more...

Published
2003

46. Is the Inhibition/Enhancement of Fusion Due to Breakup Still a Puzzle ?

Author

Szanto Toledo, A., Munhoz, M. G., Takahashi, J., Souza, F. A., Alonso, E. E., Carlin, N., Liguori Neto, R., Moura, M. M., Suade, A. A., Szanto, E. M., Aissaoui, N., Beck, C., Marc Rousseau, Bednarczyk, P., Sandrine Courtin, Haas, F., Hoellinger, F., Kintz, N., Papka, P., Sanchez, I. Zafra A., Stezowski, O., Szilner, S., Hachem, A., Martin, E., Sanders, S. J., Janssens, R. V. F., Heyd, Yvette, Institut de Recherches Subatomiques (IReS), and Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Cancéropôle du Grand Est-Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS) more...

Subjects
[PHYS.NEXP] Physics [physics]/Nuclear Experiment [nucl-ex], [PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex]
Published
2003

47. Study of the effect of breakup on the fusion cross section of the systems $^{6,7}$Li + $^{59}$Co

Author

Souza, F. A., Munhoz, M. G., Szanto Toledo, A., Alonso, E. E., Takahashi, J., Szanto, E. M., Aissaoui, N., Liguori Neto, R., Carin, N., Sanders, S. J., Beck, C., Marc Rousseau, Bednarczyk, P., Sandrine Courtin, Haas, F., Hoellinger, F., Kintz, N., Stezowski, O., Szilner, S., Hachem, A., Martin, E., Janssens, R. V. F., Institut de Recherches Subatomiques (IReS), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Cancéropôle du Grand Est-Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), and Heyd, Yvette more...

Subjects
[PHYS.NEXP] Physics [physics]/Nuclear Experiment [nucl-ex], [PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex]
Published
2002