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417 results on '"Zech, M."'

6. Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia

Author

Monfrini, E, Avanzino, L, Palermo, G, Bonato, G, Brescia, G, Ceravolo, R, Cantarella, G, Mandich, P, Prokisch, H, Storm van's Gravesande, K, Straccia, G, Elia, A, Reale, C, Panteghini, C, Zorzi, G, Eleopra, R, Erro, R, Carecchio, M, Garavaglia, B, Zech, M, Romito, L, Di Fonzo, A, Monfrini E., Avanzino L., Palermo G., Bonato G., Brescia G., Ceravolo R., Cantarella G., Mandich P., Prokisch H., Storm van's Gravesande K., Straccia G., Elia A., Reale C., Panteghini C., Zorzi G., Eleopra R., Erro R., Carecchio M., Garavaglia B., Zech M., Romito L., Di Fonzo A., Monfrini, E, Avanzino, L, Palermo, G, Bonato, G, Brescia, G, Ceravolo, R, Cantarella, G, Mandich, P, Prokisch, H, Storm van's Gravesande, K, Straccia, G, Elia, A, Reale, C, Panteghini, C, Zorzi, G, Eleopra, R, Erro, R, Carecchio, M, Garavaglia, B, Zech, M, Romito, L, Di Fonzo, A, Monfrini E., Avanzino L., Palermo G., Bonato G., Brescia G., Ceravolo R., Cantarella G., Mandich P., Prokisch H., Storm van's Gravesande K., Straccia G., Elia A., Reale C., Panteghini C., Zorzi G., Eleopra R., Erro R., Carecchio M., Garavaglia B., Zech M., Romito L., and Di Fonzo A.

Abstract

Background: VPS16 pathogenic variants have been recently associated with inherited dystonia. Most patients affected by dominant VPS16-related disease display early-onset isolated dystonia with prominent oromandibular, bulbar, cervical, and upper limb involvement, followed by slowly progressive generalization. Cases: We describe six newly reported dystonic patients carrying VPS16 mutations displaying unusual phenotypic features in addition to dystonia, such as myoclonus, choreoathetosis, pharyngospasm and freezing of gait. Response to bilateral Globus Pallidus Internus Deep Brain Stimulation (GPi-DBS) is reported in three of them, associated with significant improvement of dystonia but only minor effect on other hyperkinetic movements. Moreover, five novel pathogenic/likely pathogenic variants are described. Conclusions: This case collection expands the genetic and clinical spectrum of VPS16-related disease, prompting movement disorder specialists to suspect mutations of this gene not only in patients with isolated dystonia.

Published
2024

11. Fermi Surface and Pseudogap Evolution in a Cuprate Superconductor

Author

He, Yang, Yin, Yi, Zech, M., Soumyanarayanan, Anjan, Yee, Michael M., Williams, Tess, Boyer, M. C., Chatterjee, Kamalesh, Wise, W. D., Zeljkovic, I., Kondo, Takeshi, Takeuchi, T., Ikuta, H., Mistark, Peter, Markiewicz, Robert S., Bansil, Arun, Sachdev, Subir, Hudson, E. W., and Hoffman, Jennifer. E.

Subjects
Condensed Matter - Superconductivity, Condensed Matter - Strongly Correlated Electrons
Abstract

The unclear relationship between cuprate superconductivity and the pseudogap state remains an impediment to understanding the high transition temperature (Tc) superconducting mechanism. Here we employ magnetic-field-dependent scanning tunneling microscopy to provide phase-sensitive proof that d-wave superconductivity coexists with the pseudogap on the antinodal Fermi surface of an overdoped cuprate. Furthermore, by tracking the hole doping (p) dependence of the quasiparticle interference pattern within a single Bi-based cuprate family, we observe a Fermi surface reconstruction slightly below optimal doping, indicating a zero-field quantum phase transition in notable proximity to the maximum superconducting Tc. Surprisingly, this major reorganization of the system's underlying electronic structure has no effect on the smoothly evolving pseudogap., Comment: For higher-resolution figures, please see the published version

Published
2013
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12. In-situ direct visualization of irradiated e-beam patterns on unprocessed resists using atomic force microscopy

Author

Koop, H., Schnurbusch, D., Mueller, M., Gruendl, T., Zech, M., Amann, M. -C., Karrai, K., and Holleitner, A. W.

Subjects
Condensed Matter - Materials Science, Condensed Matter - Other Condensed Matter
Abstract

We introduce an in-situ characterization method of resists used for e-beam lithography. The technique is based on the application of an atomic force microscope which is directly mounted below the cathode of an electron-beam lithography system. We demonstrate that patterns irradiated by the e-beam can be efficiently visualized and analyzed in surface topography directly after the e-beam exposure. This in-situ analysis takes place without any development or baking steps, and gives access to the chemical (or latent) image of the irradiated resist.

Published
2010
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13. Variants in ATP5F1B are associated with dominantly inherited dystonia

Author

Nasca, A, Mencacci, N, Invernizzi, F, Zech, M, Keller Sarmiento, I, Legati, A, Frascarelli, C, Bustos, B, Romito, L, Krainc, D, Winkelmann, J, Carecchio, M, Nardocci, N, Zorzi, G, Prokisch, H, Lubbe, S, Garavaglia, B, Ghezzi, D, Nasca A., Mencacci N. E., Invernizzi F., Zech M., Keller Sarmiento I. J., Legati A., Frascarelli C., Bustos B. I., Romito L. M., Krainc D., Winkelmann J., Carecchio M., Nardocci N., Zorzi G., Prokisch H., Lubbe S. J., Garavaglia B., Ghezzi D., Nasca, A, Mencacci, N, Invernizzi, F, Zech, M, Keller Sarmiento, I, Legati, A, Frascarelli, C, Bustos, B, Romito, L, Krainc, D, Winkelmann, J, Carecchio, M, Nardocci, N, Zorzi, G, Prokisch, H, Lubbe, S, Garavaglia, B, Ghezzi, D, Nasca A., Mencacci N. E., Invernizzi F., Zech M., Keller Sarmiento I. J., Legati A., Frascarelli C., Bustos B. I., Romito L. M., Krainc D., Winkelmann J., Carecchio M., Nardocci N., Zorzi G., Prokisch H., Lubbe S. J., Garavaglia B., and Ghezzi D.

Abstract

ATP5F1B is a subunit of the mitochondrial ATP synthase or complex V of the mitochondrial respiratory chain. Pathogenic variants in nuclear genes encoding assembly factors or structural subunits are associated with complex V deficiency, typically characterized by autosomal recessive inheritance and multisystem phenotypes. Movement disorders have been described in a subset of cases carrying autosomal dominant variants in structural subunits genes ATP5F1A and ATP5MC3. Here, we report the identification of two different ATP5F1B missense variants (c.1000A>C; p.Thr334Pro and c.1445T>C; p.Val482Ala) segregating with early-onset isolated dystonia in two families, both with autosomal dominant mode of inheritance and incomplete penetrance. Functional studies in mutant fibroblasts revealed no decrease of ATP5F1B protein amount but severe reduction of complex V activity and impaired mitochondrial membrane potential, suggesting a dominant-negative effect. In conclusion, our study describes a new candidate gene associated with isolated dystonia and confirms that heterozygous variants in genes encoding subunits of the mitochondrial ATP synthase may cause autosomal dominant isolated dystonia with incomplete penetrance, likely through a dominant-negative mechanism.

Published
2023

14. Penumbral imaging and functional outcome in patients with anterior circulation ischaemic stroke treated with endovascular thrombectomy versus medical therapy: a meta-analysis of individual patient-level data

Author

Berkhemer, Olvert A, Fransen, Puck SS, Beumer, Debbie, van den Berg, Lucie A, Lingsma, Hester F, Yoo, Albert J, Schonewille, Wouter J, Vos, Jan Albert, Nederkoorn, Paul J, Wermer, Marieke JH, van Walderveen, Marianne AA, Staals, Julie, Hofmeijer, Jeannette, van Oostayen, Jacques A., Lycklama à Nijeholt, Geert J., Boiten, Jelis, Brouwer, Patrick A., Emmer, Bart J., de Bruijn, Sebastiaan F., van Dijk, Lukas C., Kappelle, Jaap, Lo, Rob H, van Dijk, Ewoud J., de Vries, Joost, de Kort, Paul L.M., van Rooij, Willem Jan J., van den Berg, Jan S.P., van Hasselt, Boudewijn A.A.M., Aerden, Leo A.M., Dallinga, René J., Visser, Marieke C., Bot, Joseph C.J., Vroomen, Patrick C., Eshghi, Omid, Schreuder, Tobien H.C.M.L., Heijboer, Roel J.J., Keizer, Koos, Tielbeek, Alexander V., den Hertog, Heleen M., Gerrits, Dick G., van den Berg-Vos, Renske M., Karas, Giorgos B., Steyerberg, Ewout W., Flach, Zwenneke, Marquering, Henk A., Sprengers, Marieke E.S., Jenniskens, Sjoerd F.M., Beenen, Ludo F.M., van den Berg, René, Koudstaal, Peter J., van Zwam, Wim H., Roos, Yvo B.W.E.M., van der Lugt, Aad, van Oostenbrugge, Robert J., Majoie, Charles B.L.M., Dippel, Diederik W.J., Brown, Martin M., Liebig, Thomas, Stijnen, Theo, Andersson, Tommy, Mattle, Heinrich, Wahlgren, Nils, van der Heijden, Esther, Ghannouti, Naziha, Fleitour, Nadine, Hooijenga, Imke, Puppels, Corina, Pellikaan, Wilma, Geerling, Annet, Lindl-Velema, Annemieke, van Vemde, Gina, de Ridder, Ans, Greebe, Paut, de Bont-Stikkelbroeck, José, de Meris, Joke, Janssen, Kirsten, Struijk, Willy, Licher, Silvan, Boodt, Nikki, Ros, Adriaan, Venema, Esmee, Slokkers, Ilse, Ganpat, Raymie-Jayce, Mulder, Maxim, Saiedie, Nawid, Heshmatollah, Alis, Schipperen, Stefanie, Vinken, Stefan, van Boxtel, Tiemen, Koets, Jeroen, Boers, Merel, Santos, Emilie, Borst, Jordi, Jansen, Ivo, Kappelhof, Manon, Lucas, Marit, Geuskens, Ralph, Barros, Renan Sales, Dobbe, Roeland, Csizmadia, Marloes, Hill, MD, Goyal, M, Demchuk, AM, Menon, BK, Eesa, M, Ryckborst, KJ, Wright, MR, Kamal, NR, Andersen, L, Randhawa, PA, Stewart, T, Patil, S, Minhas, P, Almekhlafi, M, Mishra, S, Clement, F, Sajobi, T, Shuaib, A, Montanera, WJ, Roy, D, Silver, FL, Jovin, TG, Frei, DF, Sapkota, B, Rempel, JL, Thornton, J, Williams, D, Tampieri, D, Poppe, AY, Dowlatshahi, D, Wong, JH, Mitha, AP, Subramaniam, S, Hull, G, Lowerison, MW, Salluzzi, M, Maxwell, M, Lacusta, S, Drupals, E, Armitage, K, Barber, PA, Smith, EE, Morrish, WF, Coutts, SB, Derdeyn, C, Demaerschalk, B, Yavagal, D, Martin, R, Brant, R, Yu, Y, Willinsky, RA, Weill, A, Kenney, C, Aram, H, Stys, PK, Watson, TW, Klein, G, Pearson, D, Couillard, P, Trivedi, A, Singh, D, Klourfeld, E, Imoukhuede, O, Nikneshan, D, Blayney, S, Reddy, R, Choi, P, Horton, M, Musuka, T, Dubuc, V, Field, TS, Desai, J, Adatia, S, Alseraya, A, Nambiar, V, van Dijk, R, Newcommon, NJ, Schwindt, B, Butcher, KS, Jeerakathil, T, Buck, B, Khan, K, Naik, SS, Emery, DJ, Owen, RJ, Kotylak, TB, Ashforth, RA, Yeo, TA, McNally, D, Siddiqui, M, Saqqur, M, Hussain, D, Kalashyan, H, Manosalva, A, Kate, M, Gioia, L, Hasan, S, Mohammad, A, Muratoglu, M, Cullen, A, Brennan, P, O'Hare, A, Looby, S, Hyland, D, Duff, S, McCusker, M, Hallinan, B, Lee, S, McCormack, J, Moore, A, O'Connor, M, Donegan, C, Brewer, L, Martin, A, Murphy, S, O'Rourke, K, Smyth, S, Kelly, P, Lynch, T, Daly, T, O'Brien, P, O'Driscoll, A, Martin, M, Collins, R, Coughlan, T, McCabe, D, O'Neill, D, Mulroy, M, Lynch, O, Walsh, T, O'Donnell, M, Galvin, T, Harbison, J, McElwaine, P, Mulpeter, K, McLoughlin, C, Reardon, M, Harkin, E, Dolan, E, Watts, M, Cunningham, N, Fallon, C, Gallagher, S, Cotter, P, Crowe, M, Doyle, R, Noone, I, Lapierre, M, Coté, VA, Lanthier, S, Odier, C, Durocher, A, Raymond, J, Daneault, N, Deschaintre, Y, Jankowitz, B, Baxendell, L, Massaro, L, Jackson-Graves, C, Decesare, S, Porter, P, Armbruster, K, Adams, A, Billigan, J, Oakley, J, Ducruet, A, Jadhav, A, Giurgiutiu, D-V, Aghaebrahim, A, Reddy, V, Hammer, M, Starr, M, Totoraitis, V, Wechsler, L, Streib, S, Rangaraju, S, Campbell, D, Rocha, M, Gulati, D, Krings, T, Kalman, L, Cayley, A, Williams, J, Wiegner, R, Casaubon, LK, Jaigobin, C, del Campo, JM, Elamin, E, Schaafsma, JD, Agid, R, Farb, R, ter Brugge, K, Sapkoda, BL, Baxter, BW, Barton, K, Knox, A, Porter, A, Sirelkhatim, A, Devlin, T, Dellinger, C, Pitiyanuvath, N, Patterson, J, Nichols, J, Quarfordt, S, Calvert, J, Hawk, H, Fanale, C, Bitner, A, Novak, A, Huddle, D, Bellon, R, Loy, D, Wagner, J, Chang, I, Lampe, E, Spencer, B, Pratt, R, Bartt, R, Shine, S, Dooley, G, Nguyen, T, Whaley, M, McCarthy, K, Teitelbaum, J, Poon, W, Campbell, N, Cortes, M, Lum, C, Shamloul, R, Robert, S, Stotts, G, Shamy, M, Steffenhagen, N, Blacquiere, D, Hogan, M, AlHazzaa, M, Basir, G, Lesiuk, H, Iancu, D, Santos, M, Choe, H, Weisman, DC, Jonczak, K, Blue-Schaller, A, Shah, Q, MacKenzie, L, Klein, B, Kulandaivel, K, Kozak, O, Gzesh, DJ, Harris, LJ, Khoury, JS, Mandzia, J, Pelz, D, Crann, S, Fleming, L, Hesser, K, Beauchamp, B, Amato-Marzialli, B, Boulton, M, Lopez- Ojeda, P, Sharma, M, Lownie, S, Chan, R, Swartz, R, Howard, P, Golob, D, Gladstone, D, Boyle, K, Boulos, M, Hopyan, J, Yang, V, Da Costa, L, Holmstedt, CA, Turk, AS, Navarro, R, Jauch, E, Ozark, S, Turner, R, Phillips, S, Shankar, J, Jarrett, J, Gubitz, G, Maloney, W, Vandorpe, R, Schmidt, M, Heidenreich, J, Hunter, G, Kelly, M, Whelan, R, Peeling, L, Burns, PA, Hunter, A, Wiggam, I, Kerr, E, Watt, M, Fulton, A, Gordon, P, Rennie, I, Flynn, P, Smyth, G, O'Leary, S, Gentile, N, Linares, G, McNelis, P, Erkmen, K, Katz, P, Azizi, A, Weaver, M, Jungreis, C, Faro, S, Shah, P, Reimer, H, Kalugdan, V, Saposnik, G, Bharatha, A, Li, Y, Kostyrko, P, Marotta, T, Montanera, W, Sarma, D, Selchen, D, Spears, J, Heo, JH, Jeong, K, Kim, DJ, Kim, BM, Kim, YD, Song, D, Lee, K-J, Yoo, J, Bang, OY, Rho, S, Lee, J, Jeon, P, Kim, KH, Cha, J, Kim, SJ, Ryoo, S, Lee, MJ, Sohn, S-I, Kim, C-H, Ryu, H-G, Hong, J-H, Chang, H-W, Lee, C-Y, Rha, J, Davis, Stephen M, Donnan, Geoffrey A, Campbell, Bruce CV, Mitchell, Peter J, Churilov, Leonid, Yan, Bernard, Dowling, Richard, Yassi, Nawaf, Oxley, Thomas J, Wu, Teddy Y, Silver, Gabriel, McDonald, Amy, McCoy, Rachael, Kleinig, Timothy J, Scroop, Rebecca, Dewey, Helen M, Simpson, Marion, Brooks, Mark, Coulton, Bronwyn, Krause, Martin, Harrington, Timothy J, Steinfort, Brendan, Faulder, Kenneth, Priglinger, Miriam, Day, Susan, Phan, Thanh, Chong, Winston, Holt, Michael, Chandra, Ronil V, Ma, Henry, Young, Dennis, Wong, Kitty, Wijeratne, Tissa, Tu, Hans, Mackay, Elizabeth, Celestino, Sherisse, Bladin, Christopher F, Loh, Poh Sien, Gilligan, Amanda, Ross, Zofia, Coote, Skye, Frost, Tanya, Parsons, Mark W, Miteff, Ferdinand, Levi, Christopher R, Ang, Timothy, Spratt, Neil, Kaauwai, Lara, Badve, Monica, Rice, Henry, de Villiers, Laetitia, Barber, P. Alan, McGuinness, Ben, Hope, Ayton, Moriarty, Maurice, Bennett, Patricia, Wong, Andrew, Coulthard, Alan, Lee, Andrew, Jannes, Jim, Field, Deborah, Sharma, Gagan, Salinas, Simon, Cowley, Elise, Snow, Barry, Kolbe, John, Stark, Richard, King, John, Macdonnell, Richard, Attia, John, D'Este, Cate, Saver, Jeffrey L, Goyal, Mayank, Diener, Hans-Christoph, Levy, Elad I., Bonafé, Alain, Mendes Pereira, Vitor, Jahan, Reza, Albers, Gregory W., Cognard, Christophe, Cohen, David J., Hacke, Werner, Jansen, Olav, Jovin, Tudor G., Mattle, Heinrich P., Nogueira, Raul G., Siddiqui, Adnan H., Yavagal, Dileep R., von Kummer, Rüdiger, Smith, Wade, Turjman, Francis, Hamilton, Scott, Chiacchierini, Richard, Amar, Arun, Sanossian, Nerses, Loh, Yince, Baxter, B, Reddy, VK, Horev, A, Star, M, Siddiqui, A, Hopkins, LN, Snyder, K, Sawyer, R, Hall, S, Costalat, V, Riquelme, C, Machi, P, Omer, E, Arquizan, C, Mourand, I, Charif, M, Ayrignac, X, Menjot de Champfleur, N, Leboucq, N, Gascou, G, Moynier, M, du Mesnil de Rochemont, R, Singer, O, Berkefeld, J, Foerch, C, Lorenz, M, Pfeilschifer, W, Hattingen, E, Wagner, M, You, SJ, Lescher, S, Braun, H, Dehkharghani, S, Belagaje, SR, Anderson, A, Lima, A, Obideen, M, Haussen, D, Dharia, R, Frankel, M, Patel, V, Owada, K, Saad, A, Amerson, L, Horn, C, Doppelheuer, S, Schindler, K, Lopes, DK, Chen, M, Moftakhar, R, Anton, C, Smreczak, M, Carpenter, JS, Boo, S, Rai, A, Roberts, T, Tarabishy, A, Gutmann, L, Brooks, C, Brick, J, Domico, J, Reimann, G, Hinrichs, K, Becker, M, Heiss, E, Selle, C, Witteler, A, Al-Boutros, S, Danch, M-J, Ranft, A, Rohde, S, Burg, K, Weimar, C, Zegarac, V, Hartmann, C, Schlamann, M, Göricke, S, Ringlestein, A, Wanke, I, Mönninghoff, C, Dietzold, M, Budzik, R, Davis, T, Eubank, G, Hicks, WJ, Pema, P, Vora, N, Mejilla, J, Taylor, M, Clark, W, Rontal, A, Fields, J, Peterson, B, Nesbit, G, Lutsep, H, Bozorgchami, H, Priest, R, Ologuntoye, O, Barnwell, S, Dogan, A, Herrick, K, Takahasi, C, Beadell, N, Brown, B, Jamieson, S, Hussain, MS, Russman, A, Hui, F, Wisco, D, Uchino, K, Khawaja, Z, Katzan, I, Toth, G, Cheng-Ching, E, Bain, M, Man, S, Farrag, A, George, P, John, S, Shankar, L, Drofa, A, Dahlgren, R, Bauer, A, Itreat, A, Taqui, A, Cerejo, R, Richmond, A, Ringleb, P, Bendszus, M, Möhlenbruch, M, Reiff, T, Amiri, H, Purrucker, J, Herweh, C, Pham, M, Menn, O, Ludwig, I, Acosta, I, Villar, C, Morgan, W, Sombutmai, C, Hellinger, F, Allen, E, Bellew, M, Gandhi, R, Bonwit, E, Aly, J, Ecker, RD, Seder, D, Morris, J, Skaletsky, M, Belden, J, Baker, C, Connolly, LS, Papanagiotou, P, Roth, C, Kastrup, A, Politi, M, Brunner, F, Alexandrou, M, Merdivan, H, Ramsey, C, Given II, C, Renfrow, S, Deshmukh, V, Sasadeusz, K, Vincent, F, Thiesing, JT, Putnam, J, Bhatt, A, Kansara, A, Caceves, D, Lowenkopf, T, Yanase, L, Zurasky, J, Dancer, S, Freeman, B, Scheibe-Mirek, T, Robison, J, Roll, J, Clark, D, Rodriguez, M, Fitzsimmons, B-FM, Zaidat, O, Lynch, JR, Lazzaro, M, Larson, T, Padmore, L, Das, E, Farrow-Schmidt, A, Hassan, A, Tekle, W, Cate, C, Jansen, O, Cnyrim, C, Wodarg, F, Wiese, C, Binder, A, Riedel, C, Rohr, A, Lang, N, Laufs, H, Krieter, S, Remonda, L, Diepers, M, Añon, J, Nedeltchev, K, Kahles, T, Biethahn, S, Lindner, M, Chang, V, Gächter, C, Esperon, C, Guglielmetti, M, Arenillas Lara, JF, Martínez Galdámez, M, Calleja Sanz, AI, Cortijo Garcia, E, Garcia Bermejo, P, Perez, S, Mulero Carrillo, P, Crespo Vallejo, E, Ruiz Piñero, M, Lopez Mesonero, L, Reyes Muñoz, FJ, Brekenfeld, C, Buhk, J-H, Krützelmann, A, Thomalla, G, Cheng, B, Beck, C, Hoppe, J, Goebell, E, Holst, B, Grzyska, U, Wortmann, G, Starkman, S, Duckwiler, G, Jahan, R, Rao, N, Sheth, S, Ng, K, Noorian, A, Szeder, V, Nour, M, McManus, M, Huang, J, Tarpley, J, Tateshima, S, Gonzalez, N, Ali, L, Liebeskind, D, Hinman, J, Calderon-Arnulphi, M, Liang, C, Guzy, J, Koch, S, DeSousa, K, Gordon-Perue, G, Elhammady, M, Peterson, E, Pandey, V, Dharmadhikari, S, Khandelwal, P, Malik, A, Pafford, R, Gonzalez, P, Ramdas, K, Andersen, G, Damgaard, D, Von Weitzel-Mudersbach, P, Simonsen, C, Ruiz de Morales Ayudarte, N, Poulsen, M, Sørensen, L, Karabegovich, S, Hjørringgaard, M, Hjort, N, Harbo, T, Sørensen, K, Deshaies, E, Padalino, D, Swarnkar, A, Latorre, JG, Elnour, E, El-Zammar, Z, Villwock, M, Farid, H, Balgude, A, Cross, L, Hansen, K, Holtmannspötter, M, Kondziella, D, Hoejgaard, J, Taudorf, S, Soendergaard, H, Wagner, A, Cronquist, M, Stavngaard, T, Cortsen, M, Krarup, LH, Hyldal, T, Haring, H-P, Guggenberger, S, Hamberger, M, Trenkler, J, Sonnberger, M, Nussbaumer, K, Dominger, C, Bach, E, Jagadeesan, BD, Taylor, R, Kim, J, Shea, K, Tummala, R, Zacharatos, H, Sandhu, D, Ezzeddine, M, Grande, A, Hildebrandt, D, Miller, K, Scherber, J, Hendrickson, A, Jumaa, M, Zaidi, S, Hendrickson, T, Snyder, V, Killer-Oberpfalzer, M, Mutzenbach, J, Weymayr, F, Broussalis, E, Stadler, K, Jedlitschka, A, Malek, A, Mueller-Kronast, N, Beck, P, Martin, C, Summers, D, Day, J, Bettinger, I, Holloway, W, Olds, K, Arkin, S, Akhtar, N, Boutwell, C, Crandall, S, Schwartzman, M, Weinstein, C, Brion, B, Prothmann, S, Kleine, J, Kreiser, K, Boeckh-Behrens, T, Poppert, H, Wunderlich, S, Koch, ML, Biberacher, V, Huberle, A, Gora-Stahlberg, G, Knier, B, Meindl, T, Utpadel-Fischler, D, Zech, M, Kowarik, M, Seifert, C, Schwaiger, B, Puri, A, Hou, S, Wakhloo, A, Moonis, M, Henninger, N, Goddeau, R, Massari, F, Minaeian, A, Lozano, JD, Ramzan, M, Stout, C, Patel, A, Tunguturi, A, Onteddu, S, Carandang, R, Howk, M, Ribó, M, Sanjuan, E, Rubiera, M, Pagola, J, Flores, A, Muchada, M, Meler, P, Huerga, E, Gelabert, S, Coscojuela, P, Tomasello, A, Rodriguez, D, Santamarina, E, Maisterra, O, Boned, S, Seró, L, Rovira, A, Molina, CA, Millán, M, Muñoz, L, Pérez de la Ossa, N, Gomis, M, Dorado, L, López-Cancio, E, Palomeras, E, Munuera, J, García Bermejo, P, Remollo, S, Castaño, C, García-Sort, R, Cuadras, P, Puyalto, P, Hernández-Pérez, M, Jiménez, M, Martínez-Piñeiro, A, Lucente, G, Dávalos, A, Chamorro, A, Urra, X, Obach, V, Cervera, A, Amaro, S, Llull, L, Codas, J, Balasa, M, Navarro, J, Ariño, H, Aceituno, A, Rudilosso, S, Renu, A, Macho, JM, San Roman, L, Blasco, J, López, A, Macías, N, Cardona, P, Quesada, H, Rubio, F, Cano, L, Lara, B, de Miquel, MA, Aja, L, Serena, J, Cobo, E, Albers, Gregory W, Lees, Kennedy R, Arenillas, J, Roberts, R, Al-Ajlan, F, Zimmel, L, Patel, S, Martí-Fàbregas, J, Salvat-Plana, M, Bracard, S, Ducrocq, Xavier, Anxionnat, René, Baillot, Pierre-Alexandre, Barbier, Charlotte, Derelle, Anne-Laure, Lacour, Jean-Christophe, Richard, Sébastien, Samson, Yves, Sourour, Nader, Baronnet-Chauvet, Flore, Clarencon, Frédéric, Crozier, Sophie, Deltour, Sandrine, Di Maria, Federico, Le Bouc, Raphael, Leger, Anne, Mutlu, Gurkan, Rosso, Charlotte, Szatmary, Zoltan, Yger, Marion, Zavanone, Chiara, Bakchine, Serge, Pierot, Laurent, Caucheteux, Nathalie, Estrade, Laurent, Kadziolka, Krzysztof, Leautaud, Alexandre, Renkes, Céline, Serre, Isabelle, Desal, Hubert, Guillon, Benoît, Boutoleau-Bretonniere, Claire, Daumas-Duport, Benjamin, De Gaalon, Solène, Derkinderen, Pascal, Evain, Sarah, Herisson, Fanny, Laplaud, David-Axel, Lebouvier, Thibaud, Lintia-Gaultier, Alina, Pouclet-Courtemanche, Hélène, Rouaud, Tiphaine, Rouaud Jaffrenou, Violaine, Schunck, Aurélia, Sevin-Allouet, Mathieu, Toulgoat, Frederique, Wiertlewski, Sandrine, Gauvrit, Jean-Yves, Ronziere, Thomas, Cahagne, Vincent, Ferre, Jean-Christophe, Pinel, Jean-François, Raoult, Hélène, Mas, Jean-Louis, Meder, Jean-François, Al Najjar-Carpentier, Amen-Adam, Birchenall, Julia, Bodiguel, Eric, Calvet, David, Domigo, Valérie, Godon-Hardy, Sylvie, Guiraud, Vincent, Lamy, Catherine, Majhadi, Loubna, Morin, Ludovic, Naggara, Olivier, Trystram, Denis, Turc, Guillaume, Berge, Jérôme, Sibon, Igor, Menegon, Patrice, Barreau, Xavier, Rouanet, François, Debruxelles, Sabrina, Kazadi, Annabelle, Renou, Pauline, Fleury, Olivier, Pasco-Papon, Anne, Dubas, Frédéric, Caroff, Jildaz, Godard Ducceschi, Sophie, Hamon, Marie-Aurélie, Lecluse, Alderic, Marc, Guillaume, Giroud, Maurice, Ricolfi, Frédéric, Bejot, Yannick, Chavent, Adrien, Gentil, Arnaud, Kazemi, Apolline, Osseby, Guy-Victor, Voguet, Charlotte, Mahagne, Marie-Hélène, Sedat, Jacques, Chau, Yves, Suissa, Laurent, Lachaud, Sylvain, Houdart, Emmanuel, Stapf, Christian, Buffon Porcher, Frédérique, Chabriat, Hugues, Guedin, Pierre, Herve, Dominique, Jouvent, Eric, Mawet, Jérôme, Saint-Maurice, Jean-Pierre, Schneble, Hans-Martin, Nighoghossian, Norbert, Berhoune, Nadia-Nawel, Bouhour, Françoise, Cho, Tae-Hee, Derex, Laurent, Felix, Sandra, Gervais-Bernard, Hélène, Gory, Benjamin, Manera, Luis, Mechtouff, Laura, Ritzenthaler, Thomas, Riva, Roberto, Salaris Silvio, Fabrizio, Tilikete, Caroline, Blanc, Raphael, Obadia, Michaël, Bartolini, Mario Bruno, Gueguen, Antoine, Piotin, Michel, Pistocchi, Silvia, Redjem, Hocine, Drouineau, Jacques, Neau, Jean-Philippe, Godeneche, Gaelle, Lamy, Matthias, Marsac, Emilia, Velasco, Stephane, Clavelou, Pierre, Chabert, Emmanuel, Bourgois, Nathalie, Cornut-Chauvinc, Catherine, Ferrier, Anna, Gabrillargues, Jean, Jean, Betty, Marques, Anna-Raquel, Vitello, Nicolas, Detante, Olivier, Barbieux, Marianne, Boubagra, Kamel, Favre Wiki, Isabelle, Garambois, Katia, Tahon, Florence, Ashok, Vasdev, Coskun, Oguzhan, Rodesch, Georges, Lapergue, Bertrand, Bourdain, Frédéric, Evrard, Serge, Graveleau, Philippe, Decroix, Jean Pierre, Wang, Adrien, Sellal, François, Ahle, Guido, Carelli, Gabriela, Dugay, Marie-Hélène, Gaultier, Claude, Lebedinsky, Ariel Pablo, Lita, Lavinia, Musacchio, Raul Mariano, Renglewicz-Destuynder, Catherine, Tournade, Alain, Vuillemet, Françis, Montoro, Francisco Macian, Mounayer, Charbel, Faugeras, Frederic, Gimenez, Laetitia, Labach, Catherine, Lautrette, Géraldine, Denier, Christian, Saliou, Guillaume, Chassin, Olivier, Dussaule, Claire, Melki, Elsa, Ozanne, Augustin, Puccinelli, Francesco, Sachet, Marina, Sarov, Mariana, Bonneville, Jean-François, Moulin, Thierry, Biondi, Alessandra, De Bustos Medeiros, Elisabeth, Vuillier, Fabrice, Courtheoux, Patrick, Viader, Fausto, Apoil-Brissard, Marion, Bataille, Mathieu, Bonnet, Anne-Laure, Cogez, Julien, Touze, Emmanuel, Leclerc, Xavier, Leys, Didier, Aggour, Mohamed, Aguettaz, Pierre, Bodenant, Marie, Cordonnier, Charlotte, Deplanque, Dominique, Girot, Marie, Henon, Hilde, Kalsoum, Erwah, Lucas, Christian, Pruvo, Jean-Pierre, Zuniga, Paolo, Arquizan, Caroline, Costalat, Vincent, Machi, Paolo, Mourand, Isabelle, Riquelme, Carlos, Bounolleau, Pierre, Arteaga, Charles, Faivre, Anthony, Bintner, Marc, Tournebize, Patrice, Charlin, Cyril, Darcel, Françoise, Gauthier-Lasalarie, Pascale, Jeremenko, Marcia, Mouton, Servane, Zerlauth, Jean-Baptiste, Lamy, Chantal, Hervé, Deramond, Hassan, Hosseini, Gaston, André, Barral, Francis-Guy, Garnier, Pierre, Beaujeux, Rémy, Wolff, Valérie, Herbreteau, Denis, Debiais, Séverine, Murray, Alicia, Ford, Gary, Muir, Keith W, White, Philip, Clifton, Andy, Freeman, Janet, Ford, Ian, Markus, Hugh, Wardlaw, Joanna, Molyneux, Andy, Robinson, Thompson, Lewis, Steff, Norrie, John, Robertson, Fergus, Perry, Richard, Dixit, Anand, Cloud, Geoffrey, Clifton, Andrew, Madigan, Jeremy, Roffe, Christine, Nayak, Sanjeev, Lobotesis, Kyriakos, Smith, Craig, Herwadkar, Amit, Kandasamy, Naga, Goddard, Tony, Bamford, John, Subramanian, Ganesh, Lenthall, Rob, Littleton, Edward, Lamin, Sal, Storey, Kelley, Ghatala, Rita, Banaras, Azra, Aeron-Thomas, John, Hazel, Bath, Maguire, Holly, Veraque, Emelda, Harrison, Louise, Keshvara, Rekha, Cunningham, James, Campbell, Bruce C V, Majoie, Charles B L M, Menon, Bijoy K, van Zwam, Wim H, van Oostenbrugge, Robert J, Demchuk, Andrew M, Guillemin, Francis, Dávalos, Antoni, Butcher, Kenneth S, Cherifi, Aboubaker, Marquering, Henk A, Macho Fernández, Juan M, Oppenheim, Catherine, Roos, Yvo B W E M, Shankar, Jai, Lingsma, Hester, Hernández-Pérez, María, Bharatha, Aditya, Levy, Elad I, Soudant, Marc, Aja, Lucia, Krings, Timo, Tisserand, Marie, San Román, Luis, Tomasello, Alejandro, Brown, Scott, Liebeskind, David S, Bracard, Serge, Dippel, Diederik W J, Jovin, Tudor G, and Hill, Michael D

Published
2019
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15. Scanning Tunneling Spectroscopy and Vortex Imaging in the Iron-Pnictide Superconductor BaFe$_{1.8}$Co$_{0.2}$As$_2$

Author

Yin, Yi, Zech, M., Williams, T. L., Wang, X. F., Wu, G., Chen, X. H., and Hoffman, J. E.

Subjects
Condensed Matter - Superconductivity, Condensed Matter - Strongly Correlated Electrons
Abstract

We present an atomic resolution scanning tunneling spectroscopy study of superconducting BaFe$_{1.8}$Co$_{0.2}$As$_2$ single crystals in magnetic fields up to $9 \text{Tesla}$. At zero field, a single gap with coherence peaks at $\overline{\Delta}=6.25 \text{meV}$ is observed in the density of states. At $9 \text{T}$ and $6 \text{T}$, we image a disordered vortex lattice, consistent with isotropic, single flux quantum vortices. Vortex locations are uncorrelated with strong scattering surface impurities, demonstrating bulk pinning. The vortex-induced sub-gap density of states fits an exponential decay from the vortex center, from which we extract a coherence length $\xi=27.6\pm 2.9 \text{\AA}$, corresponding to an upper critical field $H_{c2}=43 \text{T}$., Comment: 4 pages, 4 figures

Published
2008
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16. Genetic control of MTOR to improve adoptive T cell therapy of tumours

Author

Zech, M. H. and Stauss, H. J.

Subjects
616
Abstract

Adoptive T cell therapy to treat cancer in combination with re-directing specificity through T cell receptor (TCR) gene transfer, represents an effective therapeutic option. However, reduced effector responses due to the immunosuppressive tumour microenvironment and insufficient long-term engraftment of transferred cells represent two potential limitations. Tumours often employ mechanisms to inhibit T cell responses including secretion of TGFβ and depleting the tumour microenvironment of amino acids. The main aim of this PhD project was to develop a strategy to enhance T cell function for tumour therapy. The mammalian target of rapamycin (mTOR) pathway regulates CD8 T cell differentiation such that high mTOR activation leads to enhanced effector whilst low mTOR activation leads to increased T cell memory formation. Two retrovirus constructs have been designed whereby one expresses the positive mTOR regulator Rheb and the other expresses the negative mTOR regulator Pras40. Rheb transduction into CD8 T cells resulted in enhanced activation of mTOR, increased effector functions and partial resistance to TGFβ and low arginine concentrations. Pras40 overexpression led to a decrease in the activation of mTOR and reduced effector functions. Rheb transduced CD8 T cells expanded efficiently upon antigen encounter in vivo, followed by pronounced T cell contraction. Pras40 transduced T cells were unable to expand in vivo, but persisted at low numbers and acquired a central memory phenotype. Tumour bearing mice treated with TCR re-directed CD8 T cells transduced with Rheb showed improved tumour protection. Pras40 overexpression resulted in the loss of the protective function of TCR re-directed T cells. Together, the data show that gene transfer can be used to regulate mTOR activity in T cells. Enhancing mTOR activity led to improved tumour control despite reducing memory formation. Permanent mTOR inhibition, on the other hand, preserved some memory characteristcs of T cells but deteriorated their tumour protective functions.

Published
2014

17. Imaging features and safety and efficacy of endovascular stroke treatment: a meta-analysis of individual patient-level data

Author

Berkhemer, Olvert A, Fransen, Puck SS, Beumer, Debbie, van den Berg, Lucie A, Lingsma, Hester F, Yoo, Albert J, Schonewille, Wouter J, Vos, Jan Albert, Nederkoorn, Paul J, Wermer, Marieke JH, van Walderveen, Marianne AA, Staals, Julie, Hofmeijer, Jeannette, van Oostayen, Jacques A., Lycklama à Nijeholt, Geert J., Boiten, Jelis, Brouwer, Patrick A., Emmer, Bart J., de Bruijn, Sebastiaan F., van Dijk, Lukas C., Kappelle, Jaap, Lo, Rob H, van Dijk, Ewoud J., de Vries, Joost, de Kort, Paul L.M., van Rooij, Willem Jan J., van den Berg, Jan S.P., van Hasselt, Boudewijn A.A.M., Aerden, Leo A.M., Dallinga, René J., Visser, Marieke C., Bot, Joseph C.J., Vroomen, Patrick C., Eshghi, Omid, Schreuder, Tobien H.C.M.L., Heijboer, Roel J.J., Keizer, Koos, Tielbeek, Alexander V., den Hertog, Heleen M., Gerrits, Dick G., van den Berg-Vos, Renske M., Karas, Giorgos B., Steyerberg, Ewout W., Flach, Zwenneke, Marquering, Henk A., Sprengers, Marieke E.S., Jenniskens, Sjoerd F.M., Beenen, Ludo F.M., van den Berg, René, Koudstaal, Peter J., van Zwam, Wim H., Roos, Yvo B.W.E.M., van der Lugt, Aad, van Oostenbrugge, Robert J., Majoie, Charles B.L.M., Dippel, Diederik W.J., Brown, Martin M., Liebig, Thomas, Stijnen, Theo, Andersson, Tommy, Mattle, Heinrich, Wahlgren, Nils, van der Heijden, Esther, Ghannouti, Naziha, Fleitour, Nadine, Hooijenga, Imke, Puppels, Corina, Pellikaan, Wilma, Geerling, Annet, Lindl-Velema, Annemieke, van Vemde, Gina, de Ridder, Ans, Greebe, Paut, de Bont-Stikkelbroeck, José, de Meris, Joke, Janssen, Kirsten, Struijk, Willy, Licher, Silvan, Boodt, Nikki, Ros, Adriaan, Venema, Esmee, Slokkers, Ilse, Ganpat, Raymie-Jayce, Mulder, Maxim, Saiedie, Nawid, Heshmatollah, Alis, Schipperen, Stefanie, Vinken, Stefan, van Boxtel, Tiemen, Koets, Jeroen, Boers, Merel, Santos, Emilie, Borst, Jordi, Jansen, Ivo, Kappelhof, Manon, Lucas, Marit, Geuskens, Ralph, Barros, Renan Sales, Dobbe, Roeland, Csizmadia, Marloes, Hill, MD, Goyal, M, Demchuk, AM, Menon, BK, Eesa, M, Ryckborst, KJ, Wright, MR, Kamal, NR, Andersen, L, Randhawa, PA, Stewart, T, Patil, S, Minhas, P, Almekhlafi, M, Mishra, S, Clement, F, Sajobi, T, Shuaib, A, Montanera, WJ, Roy, D, Silver, FL, Jovin, TG, Frei, DF, Sapkota, B, Rempel, JL, Thornton, J, Williams, D, Tampieri, D, Poppe, AY, Dowlatshahi, D, Wong, JH, Mitha, AP, Subramaniam, S, Hull, G, Lowerison, MW, Salluzzi, M, Maxwell, M, Lacusta, S, Drupals, E, Armitage, K, Barber, PA, Smith, EE, Morrish, WF, Coutts, SB, Derdeyn, C, Demaerschalk, B, Yavagal, D, Martin, R, Brant, R, Yu, Y, Willinsky, RA, Weill, A, Kenney, C, Aram, H, Stys, PK, Watson, TW, Klein, G, Pearson, D, Couillard, P, Trivedi, A, Singh, D, Klourfeld, E, Imoukhuede, O, Nikneshan, D, Blayney, S, Reddy, R, Choi, P, Horton, M, Musuka, T, Dubuc, V, Field, TS, Desai, J, Adatia, S, Alseraya, A, Nambiar, V, van Dijk, R, Newcommon, NJ, Schwindt, B, Butcher, KS, Jeerakathil, T, Buck, B, Khan, K, Naik, SS, Emery, DJ, Owen, RJ, Kotylak, TB, Ashforth, RA, Yeo, TA, McNally, D, Siddiqui, M, Saqqur, M, Hussain, D, Kalashyan, H, Manosalva, A, Kate, M, Gioia, L, Hasan, S, Mohammad, A, Muratoglu, M, Cullen, A, Brennan, P, O'Hare, A, Looby, S, Hyland, D, Duff, S, McCusker, M, Hallinan, B, Lee, S, McCormack, J, Moore, A, O'Connor, M, Donegan, C, Brewer, L, Martin, A, Murphy, S, O'Rourke, K, Smyth, S, Kelly, P, Lynch, T, Daly, T, O'Brien, P, O'Driscoll, A, Martin, M, Collins, R, Coughlan, T, McCabe, D, O'Neill, D, Mulroy, M, Lynch, O, Walsh, T, O'Donnell, M, Galvin, T, Harbison, J, McElwaine, P, Mulpeter, K, McLoughlin, C, Reardon, M, Harkin, E, Dolan, E, Watts, M, Cunningham, N, Fallon, C, Gallagher, S, Cotter, P, Crowe, M, Doyle, R, Noone, I, Lapierre, M, Coté, VA, Lanthier, S, Odier, C, Durocher, A, Raymond, J, Daneault, N, Deschaintre, Y, Jankowitz, B, Baxendell, L, Massaro, L, Jackson-Graves, C, Decesare, S, Porter, P, Armbruster, K, Adams, A, Billigan, J, Oakley, J, Ducruet, A, Jadhav, A, Giurgiutiu, D-V, Aghaebrahim, A, Reddy, V, Hammer, M, Starr, M, Totoraitis, V, Wechsler, L, Streib, S, Rangaraju, S, Campbell, D, Rocha, M, Gulati, D, Krings, T, Kalman, L, Cayley, A, Williams, J, Wiegner, R, Casaubon, LK, Jaigobin, C, del Campo, JM, Elamin, E, Schaafsma, JD, Agid, R, Farb, R, ter Brugge, K, Sapkoda, BL, Baxter, BW, Barton, K, Knox, A, Porter, A, Sirelkhatim, A, Devlin, T, Dellinger, C, Pitiyanuvath, N, Patterson, J, Nichols, J, Quarfordt, S, Calvert, J, Hawk, H, Fanale, C, Bitner, A, Novak, A, Huddle, D, Bellon, R, Loy, D, Wagner, J, Chang, I, Lampe, E, Spencer, B, Pratt, R, Bartt, R, Shine, S, Dooley, G, Nguyen, T, Whaley, M, McCarthy, K, Teitelbaum, J, Poon, W, Campbell, N, Cortes, M, Lum, C, Shamloul, R, Robert, S, Stotts, G, Shamy, M, Steffenhagen, N, Blacquiere, D, Hogan, M, AlHazzaa, M, Basir, G, Lesiuk, H, Iancu, D, Santos, M, Choe, H, Weisman, DC, Jonczak, K, Blue-Schaller, A, Shah, Q, MacKenzie, L, Klein, B, Kulandaivel, K, Kozak, O, Gzesh, DJ, Harris, LJ, Khoury, JS, Mandzia, J, Pelz, D, Crann, S, Fleming, L, Hesser, K, Beauchamp, B, Amato-Marzialli, B, Boulton, M, Lopez-Ojeda, P, Sharma, M, Lownie, S, Chan, R, Swartz, R, Howard, P, Golob, D, Gladstone, D, Boyle, K, Boulos, M, Hopyan, J, Yang, V, Da Costa, L, Holmstedt, CA, Turk, AS, Navarro, R, Jauch, E, Ozark, S, Turner, R, Phillips, S, Shankar, J, Jarrett, J, Gubitz, G, Maloney, W, Vandorpe, R, Schmidt, M, Heidenreich, J, Hunter, G, Kelly, M, Whelan, R, Peeling, L, Burns, PA, Hunter, A, Wiggam, I, Kerr, E, Watt, M, Fulton, A, Gordon, P, Rennie, I, Flynn, P, Smyth, G, O'Leary, S, Gentile, N, Linares, G, McNelis, P, Erkmen, K, Katz, P, Azizi, A, Weaver, M, Jungreis, C, Faro, S, Shah, P, Reimer, H, Kalugdan, V, Saposnik, G, Bharatha, A, Li, Y, Kostyrko, P, Marotta, T, Montanera, W, Sarma, D, Selchen, D, Spears, J, Heo, JH, Jeong, K, Kim, DJ, Kim, BM, Kim, YD, Song, D, Lee, K-J, Yoo, J, Bang, OY, Rho, S, Lee, J, Jeon, P, Kim, KH, Cha, J, Kim, SJ, Ryoo, S, Lee, MJ, Sohn, S-I, Kim, C-H, Ryu, H-G, Hong, J-H, Chang, H-W, Lee, C-Y, Rha, J, Davis, Stephen M, Donnan, Geoffrey A, Campbell, Bruce CV, Mitchell, Peter J, Churilov, Leonid, Yan, Bernard, Dowling, Richard, Yassi, Nawaf, Oxley, Thomas J, Wu, Teddy Y, Silver, Gabriel, McDonald, Amy, McCoy, Rachael, Kleinig, Timothy J, Scroop, Rebecca, Dewey, Helen M, Simpson, Marion, Brooks, Mark, Coulton, Bronwyn, Krause, Martin, Harrington, Timothy J, Steinfort, Brendan, Faulder, Kenneth, Priglinger, Miriam, Day, Susan, Phan, Thanh, Chong, Winston, Holt, Michael, Chandra, Ronil V, Ma, Henry, Young, Dennis, Wong, Kitty, Wijeratne, Tissa, Tu, Hans, Mackay, Elizabeth, Celestino, Sherisse, Bladin, Christopher F, Loh, Poh Sien, Gilligan, Amanda, Ross, Zofia, Coote, Skye, Frost, Tanya, Parsons, Mark W, Miteff, Ferdinand, Levi, Christopher R, Ang, Timothy, Spratt, Neil, Kaauwai, Lara, Badve, Monica, Rice, Henry, de Villiers, Laetitia, Barber, P. Alan, McGuinness, Ben, Hope, Ayton, Moriarty, Maurice, Bennett, Patricia, Wong, Andrew, Coulthard, Alan, Lee, Andrew, Jannes, Jim, Field, Deborah, Sharma, Gagan, Salinas, Simon, Cowley, Elise, Snow, Barry, Kolbe, John, Stark, Richard, King, John, Macdonnell, Richard, Attia, John, D'Este, Cate, Saver, Jeffrey L, Goyal, Mayank, Diener, Hans-Christoph, Levy, Elad I., Bonafé, Alain, Mendes Pereira, Vitor, Jahan, Reza, Albers, Gregory W., Cognard, Christophe, Cohen, David J., Hacke, Werner, Jansen, Olav, Jovin, Tudor G., Mattle, Heinrich P., Nogueira, Raul G., Siddiqui, Adnan H., Yavagal, Dileep R., von Kummer, Rüdiger, Smith, Wade, Turjman, Francis, Hamilton, Scott, Chiacchierini, Richard, Amar, Arun, Sanossian, Nerses, Loh, Yince, Baxter, B, Reddy, VK, Horev, A, Star, M, Siddiqui, A, Hopkins, LN, Snyder, K, Sawyer, R, Hall, S, Costalat, V, Riquelme, C, Machi, P, Omer, E, Arquizan, C, Mourand, I, Charif, M, Ayrignac, X, Menjot de Champfleur, N, Leboucq, N, Gascou, G, Moynier, M, du Mesnil de Rochemont, R, Singer, O, Berkefeld, J, Foerch, C, Lorenz, M, Pfeilschifer, W, Hattingen, E, Wagner, M, You, SJ, Lescher, S, Braun, H, Dehkharghani, S, Belagaje, SR, Anderson, A, Lima, A, Obideen, M, Haussen, D, Dharia, R, Frankel, M, Patel, V, Owada, K, Saad, A, Amerson, L, Horn, C, Doppelheuer, S, Schindler, K, Lopes, DK, Chen, M, Moftakhar, R, Anton, C, Smreczak, M, Carpenter, JS, Boo, S, Rai, A, Roberts, T, Tarabishy, A, Gutmann, L, Brooks, C, Brick, J, Domico, J, Reimann, G, Hinrichs, K, Becker, M, Heiss, E, Selle, C, Witteler, A, Al-Boutros, S, Danch, M-J, Ranft, A, Rohde, S, Burg, K, Weimar, C, Zegarac, V, Hartmann, C, Schlamann, M, Göricke, S, Ringlestein, A, Wanke, I, Mönninghoff, C, Dietzold, M, Budzik, R, Davis, T, Eubank, G, Hicks, WJ, Pema, P, Vora, N, Mejilla, J, Taylor, M, Clark, W, Rontal, A, Fields, J, Peterson, B, Nesbit, G, Lutsep, H, Bozorgchami, H, Priest, R, Ologuntoye, O, Barnwell, S, Dogan, A, Herrick, K, Takahasi, C, Beadell, N, Brown, B, Jamieson, S, Hussain, MS, Russman, A, Hui, F, Wisco, D, Uchino, K, Khawaja, Z, Katzan, I, Toth, G, Cheng-Ching, E, Bain, M, Man, S, Farrag, A, George, P, John, S, Shankar, L, Drofa, A, Dahlgren, R, Bauer, A, Itreat, A, Taqui, A, Cerejo, R, Richmond, A, Ringleb, P, Bendszus, M, Möhlenbruch, M, Reiff, T, Amiri, H, Purrucker, J, Herweh, C, Pham, M, Menn, O, Ludwig, I, Acosta, I, Villar, C, Morgan, W, Sombutmai, C, Hellinger, F, Allen, E, Bellew, M, Gandhi, R, Bonwit, E, Aly, J, Ecker, RD, Seder, D, Morris, J, Skaletsky, M, Belden, J, Baker, C, Connolly, LS, Papanagiotou, P, Roth, C, Kastrup, A, Politi, M, Brunner, F, Alexandrou, M, Merdivan, H, Ramsey, C, Given II, C, Renfrow, S, Deshmukh, V, Sasadeusz, K, Vincent, F, Thiesing, JT, Putnam, J, Bhatt, A, Kansara, A, Caceves, D, Lowenkopf, T, Yanase, L, Zurasky, J, Dancer, S, Freeman, B, Scheibe-Mirek, T, Robison, J, Roll, J, Clark, D, Rodriguez, M, Fitzsimmons, B-FM, Zaidat, O, Lynch, JR, Lazzaro, M, Larson, T, Padmore, L, Das, E, Farrow-Schmidt, A, Hassan, A, Tekle, W, Cate, C, Jansen, O, Cnyrim, C, Wodarg, F, Wiese, C, Binder, A, Riedel, C, Rohr, A, Lang, N, Laufs, H, Krieter, S, Remonda, L, Diepers, M, Añon, J, Nedeltchev, K, Kahles, T, Biethahn, S, Lindner, M, Chang, V, Gächter, C, Esperon, C, Guglielmetti, M, Arenillas Lara, JF, Martínez Galdámez, M, Calleja Sanz, AI, Cortijo Garcia, E, Garcia Bermejo, P, Perez, S, Mulero Carrillo, P, Crespo Vallejo, E, Ruiz Piñero, M, Lopez Mesonero, L, Reyes Muñoz, FJ, Brekenfeld, C, Buhk, J-H, Krützelmann, A, Thomalla, G, Cheng, B, Beck, C, Hoppe, J, Goebell, E, Holst, B, Grzyska, U, Wortmann, G, Starkman, S, Duckwiler, G, Jahan, R, Rao, N, Sheth, S, Ng, K, Noorian, A, Szeder, V, Nour, M, McManus, M, Huang, J, Tarpley, J, Tateshima, S, Gonzalez, N, Ali, L, Liebeskind, D, Hinman, J, Calderon-Arnulphi, M, Liang, C, Guzy, J, Koch, S, DeSousa, K, Gordon-Perue, G, Elhammady, M, Peterson, E, Pandey, V, Dharmadhikari, S, Khandelwal, P, Malik, A, Pafford, R, Gonzalez, P, Ramdas, K, Andersen, G, Damgaard, D, Von Weitzel-Mudersbach, P, Simonsen, C, Ruiz de Morales Ayudarte, N, Poulsen, M, Sørensen, L, Karabegovich, S, Hjørringgaard, M, Hjort, N, Harbo, T, Sørensen, K, Deshaies, E, Padalino, D, Swarnkar, A, Latorre, JG, Elnour, E, El-Zammar, Z, Villwock, M, Farid, H, Balgude, A, Cross, L, Hansen, K, Holtmannspötter, M, Kondziella, D, Hoejgaard, J, Taudorf, S, Soendergaard, H, Wagner, A, Cronquist, M, Stavngaard, T, Cortsen, M, Krarup, LH, Hyldal, T, Haring, H-P, Guggenberger, S, Hamberger, M, Trenkler, J, Sonnberger, M, Nussbaumer, K, Dominger, C, Bach, E, Jagadeesan, BD, Taylor, R, Kim, J, Shea, K, Tummala, R, Zacharatos, H, Sandhu, D, Ezzeddine, M, Grande, A, Hildebrandt, D, Miller, K, Scherber, J, Hendrickson, A, Jumaa, M, Zaidi, S, Hendrickson, T, Snyder, V, Killer-Oberpfalzer, M, Mutzenbach, J, Weymayr, F, Broussalis, E, Stadler, K, Jedlitschka, A, Malek, A, Mueller-Kronast, N, Beck, P, Martin, C, Summers, D, Day, J, Bettinger, I, Holloway, W, Olds, K, Arkin, S, Akhtar, N, Boutwell, C, Crandall, S, Schwartzman, M, Weinstein, C, Brion, B, Prothmann, S, Kleine, J, Kreiser, K, Boeckh-Behrens, T, Poppert, H, Wunderlich, S, Koch, ML, Biberacher, V, Huberle, A, Gora-Stahlberg, G, Knier, B, Meindl, T, Utpadel-Fischler, D, Zech, M, Kowarik, M, Seifert, C, Schwaiger, B, Puri, A, Hou, S, Wakhloo, A, Moonis, M, Henniger, N, Goddeau, R, Massari, F, Minaeian, A, Lozano, JD, Ramzan, M, Stout, C, Patel, A, Tunguturi, A, Onteddu, S, Carandang, R, Howk, M, Ribó, M, Sanjuan, E, Rubiera, M, Pagola, J, Flores, A, Muchada, M, Meler, P, Huerga, E, Gelabert, S, Coscojuela, P, Tomasello, A, Rodriguez, D, Santamarina, E, Maisterra, O, Boned, S, Seró, L, Rovira, A, Molina, CA, Millán, M, Muñoz, L, Pérez de la Ossa, N, Gomis, M, Dorado, L, López-Cancio, E, Palomeras, E, Munuera, J, García Bermejo, P, Remollo, S, Castaño, C, García-Sort, R, Cuadras, P, Puyalto, P, Hernández-Pérez, M, Jiménez, M, Martínez-Piñeiro, A, Lucente, G, Dávalos, A, Chamorro, A, Urra, X, Obach, V, Cervera, A, Amaro, S, Llull, L, Codas, J, Balasa, M, Navarro, J, Ariño, H, Aceituno, A, Rudilosso, S, Renu, A, Macho, JM, San Roman, L, Blasco, J, López, A, Macías, N, Cardona, P, Quesada, H, Rubio, F, Cano, L, Lara, B, de Miquel, MA, Aja, L, Serena, J, Cobo, E, Albers, Gregory W, Lees, Kennedy R, Arenillas, J, Roberts, R, Al-Ajlan, F, Zimmel, L, Patel, S, Martí-Fàbregas, J, Salvat-Plana, M, Bracard, S, Ducrocq, Xavier, Anxionnat, René, Baillot, Pierre-Alexandre, Barbier, Charlotte, Derelle, Anne-Laure, Lacour, Jean-Christophe, Richard, Sébastien, Samson, Yves, Sourour, Nader, Baronnet-Chauvet, Flore, Clarencon, Frédéric, Crozier, Sophie, Deltour, Sandrine, Di Maria, Federico, Le Bouc, Raphael, Leger, Anne, Mutlu, Gurkan, Rosso, Charlotte, Szatmary, Zoltan, Yger, Marion, Zavanone, Chiara, Bakchine, Serge, Pierot, Laurent, Caucheteux, Nathalie, Estrade, Laurent, Kadziolka, Krzysztof, Leautaud, Alexandre, Renkes, Céline, Serre, Isabelle, Desal, Hubert, Guillon, Benoît, Boutoleau-Bretonniere, Claire, Daumas-Duport, Benjamin, De Gaalon, Solène, Derkinderen, Pascal, Evain, Sarah, Herisson, Fanny, Laplaud, David-Axel, Lebouvier, Thibaud, Lintia-Gaultier, Alina, Pouclet-Courtemanche, Hélène, Rouaud, Tiphaine, Rouaud Jaffrenou, Violaine, Schunck, Aurélia, Sevin-Allouet, Mathieu, Toulgoat, Frederique, Wiertlewski, Sandrine, Gauvrit, Jean-Yves, Ronziere, Thomas, Cahagne, Vincent, Ferre, Jean-Christophe, Pinel, Jean-François, Raoult, Hélène, Mas, Jean-Louis, Meder, Jean-François, Al Najjar-Carpentier, Amen-Adam, Birchenall, Julia, Bodiguel, Eric, Calvet, David, Domigo, Valérie, Godon-Hardy, Sylvie, Guiraud, Vincent, Lamy, Catherine, Majhadi, Loubna, Morin, Ludovic, Naggara, Olivier, Trystram, Denis, Turc, Guillaume, Berge, Jérôme, Sibon, Igor, Menegon, Patrice, Barreau, Xavier, Rouanet, François, Debruxelles, Sabrina, Kazadi, Annabelle, Renou, Pauline, Fleury, Olivier, Pasco-Papon, Anne, Dubas, Frédéric, Caroff, Jildaz, Godard Ducceschi, Sophie, Hamon, Marie-Aurélie, Lecluse, Alderic, Marc, Guillaume, Giroud, Maurice, Ricolfi, Frédéric, Bejot, Yannick, Chavent, Adrien, Gentil, Arnaud, Kazemi, Apolline, Osseby, Guy-Victor, Voguet, Charlotte, Mahagne, Marie-Hélène, Sedat, Jacques, Chau, Yves, Suissa, Laurent, Lachaud, Sylvain, Houdart, Emmanuel, Stapf, Christian, Buffon Porcher, Frédérique, Chabriat, Hugues, Guedin, Pierre, Herve, Dominique, Jouvent, Eric, Mawet, Jérôme, Saint-Maurice, Jean-Pierre, Schneble, Hans-Martin, Nighoghossian, Norbert, Berhoune, Nadia-Nawel, Bouhour, Françoise, Cho, Tae-Hee, Derex, Laurent, Felix, Sandra, Gervais-Bernard, Hélène, Gory, Benjamin, Manera, Luis, Mechtouff, Laura, Ritzenthaler, Thomas, Riva, Roberto, Salaris Silvio, Fabrizio, Tilikete, Caroline, Blanc, Raphael, Obadia, Michaël, Bartolini, Mario Bruno, Gueguen, Antoine, Piotin, Michel, Pistocchi, Silvia, Redjem, Hocine, Drouineau, Jacques, Neau, Jean-Philippe, Godeneche, Gaelle, Lamy, Matthias, Marsac, Emilia, Velasco, Stephane, Clavelou, Pierre, Chabert, Emmanuel, Bourgois, Nathalie, Cornut-Chauvinc, Catherine, Ferrier, Anna, Gabrillargues, Jean, Jean, Betty, Marques, Anna-Raquel, Vitello, Nicolas, Detante, Olivier, Barbieux, Marianne, Boubagra, Kamel, Favre Wiki, Isabelle, Garambois, Katia, Tahon, Florence, Ashok, Vasdev, Coskun, Oguzhan, Rodesch, Georges, Lapergue, Bertrand, Bourdain, Frédéric, Evrard, Serge, Graveleau, Philippe, Decroix, Jean Pierre, Wang, Adrien, Sellal, François, Ahle, Guido, Carelli, Gabriela, Dugay, Marie-Hélène, Gaultier, Claude, Lebedinsky, Ariel Pablo, Lita, Lavinia, Musacchio, Raul Mariano, Renglewicz-Destuynder, Catherine, Tournade, Alain, Vuillemet, Françis, Montoro, Francisco Macian, Mounayer, Charbel, Faugeras, Frederic, Gimenez, Laetitia, Labach, Catherine, Lautrette, Géraldine, Denier, Christian, Saliou, Guillaume, Chassin, Olivier, Dussaule, Claire, Melki, Elsa, Ozanne, Augustin, Puccinelli, Francesco, Sachet, Marina, Sarov, Mariana, Bonneville, Jean-François, Moulin, Thierry, Biondi, Alessandra, De Bustos Medeiros, Elisabeth, Vuillier, Fabrice, Courtheoux, Patrick, Viader, Fausto, Apoil-Brissard, Marion, Bataille, Mathieu, Bonnet, Anne-Laure, Cogez, Julien, Touze, Emmanuel, Leclerc, Xavier, Leys, Didier, Aggour, Mohamed, Aguettaz, Pierre, Bodenant, Marie, Cordonnier, Charlotte, Deplanque, Dominique, Girot, Marie, Henon, Hilde, Kalsoum, Erwah, Lucas, Christian, Pruvo, Jean-Pierre, Zuniga, Paolo, Arquizan, Caroline, Costalat, Vincent, Machi, Paolo, Mourand, Isabelle, Riquelme, Carlos, Bounolleau, Pierre, Arteaga, Charles, Faivre, Anthony, Bintner, Marc, Tournebize, Patrice, Charlin, Cyril, Darcel, Françoise, Gauthier-Lasalarie, Pascale, Jeremenko, Marcia, Mouton, Servane, Zerlauth, Jean-Baptiste, Lamy, Chantal, Hervé, Deramond, Hassan, Hosseini, Gaston, André, Barral, Francis-Guy, Garnier, Pierre, Beaujeux, Rémy, Wolff, Valérie, Herbreteau, Denis, Debiais, Séverine, Murray, Alicia, Ford, Gary, Muir, Keith W, White, Philip, Brown, Martin M, Clifton, Andy, Freeman, Janet, Ford, Ian, Markus, Hugh, Wardlaw, Joanna, Molyneux, Andy, Robinson, Thompson, Lewis, Steff, Norrie, John, Robertson, Fergus, Perry, Richard, Dixit, Anand, Cloud, Geoffrey, Clifton, Andrew, Madigan, Jeremy, Roffe, Christine, Nayak, Sanjeev, Lobotesis, Kyriakos, Smith, Craig, Herwadkar, Amit, Kandasamy, Naga, Goddard, Tony, Bamford, John, Subramanian, Ganesh, Lenthall, Rob, Littleton, Edward, Lamin, Sal, Storey, Kelley, Ghatala, Rita, Banaras, Azra, Aeron-Thomas, John, Hazel, Bath, Maguire, Holly, Veraque, Emelda, Harrison, Louise, Keshvara, Rekha, Cunningham, James, Román, Luis San, Menon, Bijoy K, Blasco, Jordi, Hernández-Pérez, María, Dávalos, Antoni, Majoie, Charles B L M, Campbell, Bruce C V, Guillemin, Francis, Lingsma, Hester, Epstein, Jonathan, Marquering, Henk, Wong, John H, Lopes, Demetrius, Reimann, Gernot, Dippel, Diederik W J, Coutts, Shelagh, du Mesnil de Rochemont, Richard, Yavagal, Dileep, Ferre, Jean Christophe, Roos, Yvo B W E M, Liebeskind, David S, Lenthall, Robert, Molina, Carlos, Al Ajlan, Fahad S, Reddy, Vivek, Dowlatshahi, Dar, Sourour, Nader-Antoine, Oppenheim, Catherine, Mitha, Alim P, Weimar, Christian, van Oostenbrugge, Robert J, Cobo, Erik, Demchuk, Andrew M, Boers, Anna M M, Ford, Gary A, Brown, B Scott, Jovin, Tudor, van Zwam, Wim H, Hill, Michael D, White, Phil, and Bracard, Serge

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2018
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18. Effect of general anaesthesia on functional outcome in patients with anterior circulation ischaemic stroke having endovascular thrombectomy versus standard care: a meta-analysis of individual patient data

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Berkhemer, Olvert A, Fransen, Puck SS, Beumer, Debbie, van den Berg, Lucie A, Lingsma, Hester F, Yoo, Albert J, Schonewille, Wouter J, Vos, Jan Albert, Nederkoorn, Paul J, Wermer, Marieke JH, van Walderveen, Marianne AA, Staals, Julie, Hofmeijer, Jeannette, van Oostayen, Jacques A., Lycklama à Nijeholt, Geert J., Boiten, Jelis, Brouwer, Patrick A., Emmer, Bart J., de Bruijn, Sebastiaan F., van Dijk, Lukas C., Kappelle, Jaap, Lo, Rob H, van Dijk, Ewoud J., de Vries, Joost, de Kort, Paul L.M., van Rooij, Willem Jan J., van den Berg, Jan S.P., van Hasselt, Boudewijn A.A.M., Aerden, Leo A.M., Dallinga, René J., Visser, Marieke C., Bot, Joseph C.J., Vroomen, Patrick C., Eshghi, Omid, Schreuder, Tobien H.C.M.L., Heijboer, Roel J.J., Keizer, Koos, Tielbeek, Alexander V., den Hertog, Heleen M., Gerrits, Dick G., van den Berg-Vos, Renske M., Karas, Giorgos B., Steyerberg, Ewout W., Flach, Zwenneke, Marquering, Henk A., Sprengers, Marieke E.S., Jenniskens, Sjoerd F.M., Beenen, Ludo F.M., van den Berg, René, Koudstaal, Peter J., van Zwam, Wim H., Roos, Yvo B.W.E.M., van der Lugt, Aad, van Oostenbrugge, Robert J., Majoie, Charles B.L.M., Dippel, Diederik W.J., Brown, Martin M., Liebig, Thomas, Stijnen, Theo, Andersson, Tommy, Mattle, Heinrich, Wahlgren, Nils, van der Heijden, Esther, Ghannouti, Naziha, Fleitour, Nadine, Hooijenga, Imke, Puppels, Corina, Pellikaan, Wilma, Geerling, Annet, Lindl-Velema, Annemieke, van Vemde, Gina, de Ridder, Ans, Greebe, Paut, de Bont-Stikkelbroeck, José, de Meris, Joke, Janssen, Kirsten, Struijk, Willy, Licher, Silvan, Boodt, Nikki, Ros, Adriaan, Venema, Esmee, Slokkers, Ilse, Ganpat, Raymie-Jayce, Mulder, Maxim, Saiedie, Nawid, Heshmatollah, Alis, Schipperen, Stefanie, Vinken, Stefan, van Boxtel, Tiemen, Koets, Jeroen, Boers, Merel, Santos, Emilie, Borst, Jordi, Jansen, Ivo, Kappelhof, Manon, Lucas, Marit, Geuskens, Ralph, Barros, Renan Sales, Dobbe, Roeland, Csizmadia, Marloes, Hill, MD, Goyal, M, Demchuk, AM, Menon, BK, Eesa, M, Ryckborst, KJ, Wright, MR, Kamal, NR, Andersen, L, Randhawa, PA, Stewart, T, Patil, S, Minhas, P, Almekhlafi, M, Mishra, S, Clement, F, Sajobi, T, Shuaib, A, Montanera, WJ, Roy, D, Silver, FL, Jovin, TG, Frei, DF, Sapkota, B, Rempel, JL, Thornton, J, Williams, D, Tampieri, D, Poppe, AY, Dowlatshahi, D, Wong, JH, Mitha, AP, Subramaniam, S, Hull, G, Lowerison, MW, Salluzzi, M, Maxwell, M, Lacusta, S, Drupals, E, Armitage, K, Barber, PA, Smith, EE, Morrish, WF, Coutts, SB, Derdeyn, C, Demaerschalk, B, Yavagal, D, Martin, R, Brant, R, Yu, Y, Willinsky, RA, Weill, A, Kenney, C, Aram, H, Stys, PK, Watson, TW, Klein, G, Pearson, D, Couillard, P, Trivedi, A, Singh, D, Klourfeld, E, Imoukhuede, O, Nikneshan, D, Blayney, S, Reddy, R, Choi, P, Horton, M, Musuka, T, Dubuc, V, Field, TS, Desai, J, Adatia, S, Alseraya, A, Nambiar, V, van Dijk, R, Newcommon, NJ, Schwindt, B, Butcher, KS, Jeerakathil, T, Buck, B, Khan, K, Naik, SS, Emery, DJ, Owen, RJ, Kotylak, TB, Ashforth, RA, Yeo, TA, McNally, D, Siddiqui, M, Saqqur, M, Hussain, D, Kalashyan, H, Manosalva, A, Kate, M, Gioia, L, Hasan, S, Mohammad, A, Muratoglu, M, Cullen, A, Brennan, P, O'Hare, A, Looby, S, Hyland, D, Duff, S, McCusker, M, Hallinan, B, Lee, S, McCormack, J, Moore, A, O'Connor, M, Donegan, C, Brewer, L, Martin, A, Murphy, S, O'Rourke, K, Smyth, S, Kelly, P, Lynch, T, Daly, T, O'Brien, P, O'Driscoll, A, Martin, M, Collins, R, Coughlan, T, McCabe, D, O'Neill, D, Mulroy, M, Lynch, O, Walsh, T, O'Donnell, M, Galvin, T, Harbison, J, McElwaine, P, Mulpeter, K, McLoughlin, C, Reardon, M, Harkin, E, Dolan, E, Watts, M, Cunningham, N, Fallon, C, Gallagher, S, Cotter, P, Crowe, M, Doyle, R, Noone, I, Lapierre, M, Coté, VA, Lanthier, S, Odier, C, Durocher, A, Raymond, J, Daneault, N, Deschaintre, Y, Jankowitz, B, Baxendell, L, Massaro, L, Jackson-Graves, C, Decesare, S, Porter, P, Armbruster, K, Adams, A, Billigan, J, Oakley, J, Ducruet, A, Jadhav, A, Giurgiutiu, D-V, Aghaebrahim, A, Reddy, V, Hammer, M, Starr, M, Totoraitis, V, Wechsler, L, Streib, S, Rangaraju, S, Campbell, D, Rocha, M, Gulati, D, Krings, T, Kalman, L, Cayley, A, Williams, J, Wiegner, R, Casaubon, LK, Jaigobin, C, del Campo, JM, Elamin, E, Schaafsma, JD, Agid, R, Farb, R, ter Brugge, K, Sapkoda, BL, Baxter, BW, Barton, K, Knox, A, Porter, A, Sirelkhatim, A, Devlin, T, Dellinger, C, Pitiyanuvath, N, Patterson, J, Nichols, J, Quarfordt, S, Calvert, J, Hawk, H, Fanale, C, Bitner, A, Novak, A, Huddle, D, Bellon, R, Loy, D, Wagner, J, Chang, I, Lampe, E, Spencer, B, Pratt, R, Bartt, R, Shine, S, Dooley, G, Nguyen, T, Whaley, M, McCarthy, K, Teitelbaum, J, Poon, W, Campbell, N, Cortes, M, Lum, C, Shamloul, R, Robert, S, Stotts, G, Shamy, M, Steffenhagen, N, Blacquiere, D, Hogan, M, AlHazzaa, M, Basir, G, Lesiuk, H, Iancu, D, Santos, M, Choe, H, Weisman, DC, Jonczak, K, Blue-Schaller, A, Shah, Q, MacKenzie, L, Klein, B, Kulandaivel, K, Kozak, O, Gzesh, DJ, Harris, LJ, Khoury, JS, Mandzia, J, Pelz, D, Crann, S, Fleming, L, Hesser, K, Beauchamp, B, Amato-Marzialli, B, Boulton, M, Lopez- Ojeda, P, Sharma, M, Lownie, S, Chan, R, Swartz, R, Howard, P, Golob, D, Gladstone, D, Boyle, K, Boulos, M, Hopyan, J, Yang, V, Da Costa, L, Holmstedt, CA, Turk, AS, Navarro, R, Jauch, E, Ozark, S, Turner, R, Phillips, S, Shankar, J, Jarrett, J, Gubitz, G, Maloney, W, Vandorpe, R, Schmidt, M, Heidenreich, J, Hunter, G, Kelly, M, Whelan, R, Peeling, L, Burns, PA, Hunter, A, Wiggam, I, Kerr, E, Watt, M, Fulton, A, Gordon, P, Rennie, I, Flynn, P, Smyth, G, O'Leary, S, Gentile, N, Linares, G, McNelis, P, Erkmen, K, Katz, P, Azizi, A, Weaver, M, Jungreis, C, Faro, S, Shah, P, Reimer, H, Kalugdan, V, Saposnik, G, Bharatha, A, Li, Y, Kostyrko, P, Marotta, T, Montanera, W, Sarma, D, Selchen, D, Spears, J, Heo, JH, Jeong, K, Kim, DJ, Kim, BM, Kim, YD, Song, D, Lee, K-J, Yoo, J, Bang, OY, Rho, S, Lee, J, Jeon, P, Kim, KH, Cha, J, Kim, SJ, Ryoo, S, Lee, MJ, Sohn, S-I, Kim, C-H, Ryu, H-G, Hong, J-H, Chang, H-W, Lee, C-Y, Rha, J, Davis, Stephen M, Donnan, Geoffrey A, Campbell, Bruce CV, Mitchell, Peter J, Churilov, Leonid, Yan, Bernard, Dowling, Richard, Yassi, Nawaf, Oxley, Thomas J, Wu, Teddy Y, Silver, Gabriel, McDonald, Amy, McCoy, Rachael, Kleinig, Timothy J, Scroop, Rebecca, Dewey, Helen M, Simpson, Marion, Brooks, Mark, Coulton, Bronwyn, Krause, Martin, Harrington, Timothy J, Steinfort, Brendan, Faulder, Kenneth, Priglinger, Miriam, Day, Susan, Phan, Thanh, Chong, Winston, Holt, Michael, Chandra, Ronil V, Ma, Henry, Young, Dennis, Wong, Kitty, Wijeratne, Tissa, Tu, Hans, Mackay, Elizabeth, Celestino, Sherisse, Bladin, Christopher F, Loh, Poh Sien, Gilligan, Amanda, Ross, Zofia, Coote, Skye, Frost, Tanya, Parsons, Mark W, Miteff, Ferdinand, Levi, Christopher R, Ang, Timothy, Spratt, Neil, Kaauwai, Lara, Badve, Monica, Rice, Henry, de Villiers, Laetitia, Barber, P. Alan, McGuinness, Ben, Hope, Ayton, Moriarty, Maurice, Bennett, Patricia, Wong, Andrew, Coulthard, Alan, Lee, Andrew, Jannes, Jim, Field, Deborah, Sharma, Gagan, Salinas, Simon, Cowley, Elise, Snow, Barry, Kolbe, John, Stark, Richard, King, John, Macdonnell, Richard, Attia, John, D'Este, Cate, Saver, Jeffrey L, Goyal, Mayank, Diener, Hans-Christoph, Levy, Elad I., Bonafé, Alain, Mendes Pereira, Vitor, Jahan, Reza, Albers, Gregory W., Cognard, Christophe, Cohen, David J., Hacke, Werner, Jansen, Olav, Jovin, Tudor G., Mattle, Heinrich P., Nogueira, Raul G., Siddiqui, Adnan H., Yavagal, Dileep R., von Kummer, Rüdiger, Smith, Wade, Turjman, Francis, Hamilton, Scott, Chiacchierini, Richard, Amar, Arun, Sanossian, Nerses, Loh, Yince, Baxter, B, Reddy, VK, Horev, A, Star, M, Siddiqui, A, Hopkins, LN, Snyder, K, Sawyer, R, Hall, S, Costalat, V, Riquelme, C, Machi, P, Omer, E, Arquizan, C, Mourand, I, Charif, M, Ayrignac, X, Menjot de Champfleur, N, Leboucq, N, Gascou, G, Moynier, M, du Mesnil de Rochemont, R, Singer, O, Berkefeld, J, Foerch, C, Lorenz, M, Pfeilschifer, W, Hattingen, E, Wagner, M, You, SJ, Lescher, S, Braun, H, Dehkharghani, S, Belagaje, SR, Anderson, A, Lima, A, Obideen, M, Haussen, D, Dharia, R, Frankel, M, Patel, V, Owada, K, Saad, A, Amerson, L, Horn, C, Doppelheuer, S, Schindler, K, Lopes, DK, Chen, M, Moftakhar, R, Anton, C, Smreczak, M, Carpenter, JS, Boo, S, Rai, A, Roberts, T, Tarabishy, A, Gutmann, L, Brooks, C, Brick, J, Domico, J, Reimann, G, Hinrichs, K, Becker, M, Heiss, E, Selle, C, Witteler, A, Al-Boutros, S, Danch, M-J, Ranft, A, Rohde, S, Burg, K, Weimar, C, Zegarac, V, Hartmann, C, Schlamann, M, Göricke, S, Ringlestein, A, Wanke, I, Mönninghoff, C, Dietzold, M, Budzik, R, Davis, T, Eubank, G, Hicks, WJ, Pema, P, Vora, N, Mejilla, J, Taylor, M, Clark, W, Rontal, A, Fields, J, Peterson, B, Nesbit, G, Lutsep, H, Bozorgchami, H, Priest, R, Ologuntoye, O, Barnwell, S, Dogan, A, Herrick, K, Takahasi, C, Beadell, N, Brown, B, Jamieson, S, Hussain, MS, Russman, A, Hui, F, Wisco, D, Uchino, K, Khawaja, Z, Katzan, I, Toth, G, Cheng-Ching, E, Bain, M, Man, S, Farrag, A, George, P, John, S, Shankar, L, Drofa, A, Dahlgren, R, Bauer, A, Itreat, A, Taqui, A, Cerejo, R, Richmond, A, Ringleb, P, Bendszus, M, Möhlenbruch, M, Reiff, T, Amiri, H, Purrucker, J, Herweh, C, Pham, M, Menn, O, Ludwig, I, Acosta, I, Villar, C, Morgan, W, Sombutmai, C, Hellinger, F, Allen, E, Bellew, M, Gandhi, R, Bonwit, E, Aly, J, Ecker, RD, Seder, D, Morris, J, Skaletsky, M, Belden, J, Baker, C, Connolly, LS, Papanagiotou, P, Roth, C, Kastrup, A, Politi, M, Brunner, F, Alexandrou, M, Merdivan, H, Ramsey, C, Given II, C, Renfrow, S, Deshmukh, V, Sasadeusz, K, Vincent, F, Thiesing, JT, Putnam, J, Bhatt, A, Kansara, A, Caceves, D, Lowenkopf, T, Yanase, L, Zurasky, J, Dancer, S, Freeman, B, Scheibe-Mirek, T, Robison, J, Roll, J, Clark, D, Rodriguez, M, Fitzsimmons, B-FM, Zaidat, O, Lynch, JR, Lazzaro, M, Larson, T, Padmore, L, Das, E, Farrow-Schmidt, A, Hassan, A, Tekle, W, Cate, C, Jansen, O, Cnyrim, C, Wodarg, F, Wiese, C, Binder, A, Riedel, C, Rohr, A, Lang, N, Laufs, H, Krieter, S, Remonda, L, Diepers, M, Añon, J, Nedeltchev, K, Kahles, T, Biethahn, S, Lindner, M, Chang, V, Gächter, C, Esperon, C, Guglielmetti, M, Arenillas Lara, JF, Martínez Galdámez, M, Calleja Sanz, AI, Cortijo Garcia, E, Garcia Bermejo, P, Perez, S, Mulero Carrillo, P, Crespo Vallejo, E, Ruiz Piñero, M, Lopez Mesonero, L, Reyes Muñoz, FJ, Brekenfeld, C, Buhk, J-H, Krützelmann, A, Thomalla, G, Cheng, B, Beck, C, Hoppe, J, Goebell, E, Holst, B, Grzyska, U, Wortmann, G, Starkman, S, Duckwiler, G, Jahan, R, Rao, N, Sheth, S, Ng, K, Noorian, A, Szeder, V, Nour, M, McManus, M, Huang, J, Tarpley, J, Tateshima, S, Gonzalez, N, Ali, L, Liebeskind, D, Hinman, J, Calderon-Arnulphi, M, Liang, C, Guzy, J, Koch, S, DeSousa, K, Gordon-Perue, G, Elhammady, M, Peterson, E, Pandey, V, Dharmadhikari, S, Khandelwal, P, Malik, A, Pafford, R, Gonzalez, P, Ramdas, K, Andersen, G, Damgaard, D, Von Weitzel-Mudersbach, P, Simonsen, C, Ruiz de Morales Ayudarte, N, Poulsen, M, Sørensen, L, Karabegovich, S, Hjørringgaard, M, Hjort, N, Harbo, T, Sørensen, K, Deshaies, E, Padalino, D, Swarnkar, A, Latorre, JG, Elnour, E, El-Zammar, Z, Villwock, M, Farid, H, Balgude, A, Cross, L, Hansen, K, Holtmannspötter, M, Kondziella, D, Hoejgaard, J, Taudorf, S, Soendergaard, H, Wagner, A, Cronquist, M, Stavngaard, T, Cortsen, M, Krarup, LH, Hyldal, T, Haring, H-P, Guggenberger, S, Hamberger, M, Trenkler, J, Sonnberger, M, Nussbaumer, K, Dominger, C, Bach, E, Jagadeesan, BD, Taylor, R, Kim, J, Shea, K, Tummala, R, Zacharatos, H, Sandhu, D, Ezzeddine, M, Grande, A, Hildebrandt, D, Miller, K, Scherber, J, Hendrickson, A, Jumaa, M, Zaidi, S, Hendrickson, T, Snyder, V, Killer-Oberpfalzer, M, Mutzenbach, J, Weymayr, F, Broussalis, E, Stadler, K, Jedlitschka, A, Malek, A, Mueller-Kronast, N, Beck, P, Martin, C, Summers, D, Day, J, Bettinger, I, Holloway, W, Olds, K, Arkin, S, Akhtar, N, Boutwell, C, Crandall, S, Schwartzman, M, Weinstein, C, Brion, B, Prothmann, S, Kleine, J, Kreiser, K, Boeckh-Behrens, T, Poppert, H, Wunderlich, S, Koch, ML, Biberacher, V, Huberle, A, Gora-Stahlberg, G, Knier, B, Meindl, T, Utpadel-Fischler, D, Zech, M, Kowarik, M, Seifert, C, Schwaiger, B, Puri, A, Hou, S, Wakhloo, A, Moonis, M, Henninger, N, Goddeau, R, Massari, F, Minaeian, A, Lozano, JD, Ramzan, M, Stout, C, Patel, A, Tunguturi, A, Onteddu, S, Carandang, R, Howk, M, Ribó, M, Sanjuan, E, Rubiera, M, Pagola, J, Flores, A, Muchada, M, Meler, P, Huerga, E, Gelabert, S, Coscojuela, P, Tomasello, A, Rodriguez, D, Santamarina, E, Maisterra, O, Boned, S, Seró, L, Rovira, A, Molina, CA, Millán, M, Muñoz, L, Pérez de la Ossa, N, Gomis, M, Dorado, L, López-Cancio, E, Palomeras, E, Munuera, J, García Bermejo, P, Remollo, S, Castaño, C, García-Sort, R, Cuadras, P, Puyalto, P, Hernández-Pérez, M, Jiménez, M, Martínez-Piñeiro, A, Lucente, G, Dávalos, A, Chamorro, A, Urra, X, Obach, V, Cervera, A, Amaro, S, Llull, L, Codas, J, Balasa, M, Navarro, J, Ariño, H, Aceituno, A, Rudilosso, S, Renu, A, Macho, JM, San Roman, L, Blasco, J, López, A, Macías, N, Cardona, P, Quesada, H, Rubio, F, Cano, L, Lara, B, de Miquel, MA, Aja, L, Serena, J, Cobo, E, Albers, Gregory W, Lees, Kennedy R, Arenillas, J, Roberts, R, Al-Ajlan, F, Zimmel, L, Patel, S, Martí-Fàbregas, J, Salvat-Plana, M, Bracard, S, Ducrocq, Xavier, Anxionnat, René, Baillot, Pierre-Alexandre, Barbier, Charlotte, Derelle, Anne-Laure, Lacour, Jean-Christophe, Richard, Sébastien, Samson, Yves, Sourour, Nader, Baronnet-Chauvet, Flore, Clarencon, Frédéric, Crozier, Sophie, Deltour, Sandrine, Di Maria, Federico, Le Bouc, Raphael, Leger, Anne, Mutlu, Gurkan, Rosso, Charlotte, Szatmary, Zoltan, Yger, Marion, Zavanone, Chiara, Bakchine, Serge, Pierot, Laurent, Caucheteux, Nathalie, Estrade, Laurent, Kadziolka, Krzysztof, Leautaud, Alexandre, Renkes, Céline, Serre, Isabelle, Desal, Hubert, Guillon, Benoît, Boutoleau-Bretonniere, Claire, Daumas-Duport, Benjamin, De Gaalon, Solène, Derkinderen, Pascal, Evain, Sarah, Herisson, Fanny, Laplaud, David-Axel, Lebouvier, Thibaud, Lintia-Gaultier, Alina, Pouclet-Courtemanche, Hélène, Rouaud, Tiphaine, Rouaud Jaffrenou, Violaine, Schunck, Aurélia, Sevin-Allouet, Mathieu, Toulgoat, Frederique, Wiertlewski, Sandrine, Gauvrit, Jean-Yves, Ronziere, Thomas, Cahagne, Vincent, Ferre, Jean-Christophe, Pinel, Jean-François, Raoult, Hélène, Mas, Jean-Louis, Meder, Jean-François, Al Najjar-Carpentier, Amen-Adam, Birchenall, Julia, Bodiguel, Eric, Calvet, David, Domigo, Valérie, Godon-Hardy, Sylvie, Guiraud, Vincent, Lamy, Catherine, Majhadi, Loubna, Morin, Ludovic, Naggara, Olivier, Trystram, Denis, Turc, Guillaume, Berge, Jérôme, Sibon, Igor, Menegon, Patrice, Barreau, Xavier, Rouanet, François, Debruxelles, Sabrina, Kazadi, Annabelle, Renou, Pauline, Fleury, Olivier, Pasco-Papon, Anne, Dubas, Frédéric, Caroff, Jildaz, Godard Ducceschi, Sophie, Hamon, Marie-Aurélie, Lecluse, Alderic, Marc, Guillaume, Giroud, Maurice, Ricolfi, Frédéric, Bejot, Yannick, Chavent, Adrien, Gentil, Arnaud, Kazemi, Apolline, Osseby, Guy-Victor, Voguet, Charlotte, Mahagne, Marie-Hélène, Sedat, Jacques, Chau, Yves, Suissa, Laurent, Lachaud, Sylvain, Houdart, Emmanuel, Stapf, Christian, Buffon Porcher, Frédérique, Chabriat, Hugues, Guedin, Pierre, Herve, Dominique, Jouvent, Eric, Mawet, Jérôme, Saint-Maurice, Jean-Pierre, Schneble, Hans-Martin, Nighoghossian, Norbert, Berhoune, Nadia-Nawel, Bouhour, Françoise, Cho, Tae-Hee, Derex, Laurent, Felix, Sandra, Gervais-Bernard, Hélène, Gory, Benjamin, Manera, Luis, Mechtouff, Laura, Ritzenthaler, Thomas, Riva, Roberto, Salaris Silvio, Fabrizio, Tilikete, Caroline, Blanc, Raphael, Obadia, Michaël, Bartolini, Mario Bruno, Gueguen, Antoine, Piotin, Michel, Pistocchi, Silvia, Redjem, Hocine, Drouineau, Jacques, Neau, Jean-Philippe, Godeneche, Gaelle, Lamy, Matthias, Marsac, Emilia, Velasco, Stephane, Clavelou, Pierre, Chabert, Emmanuel, Bourgois, Nathalie, Cornut-Chauvinc, Catherine, Ferrier, Anna, Gabrillargues, Jean, Jean, Betty, Marques, Anna-Raquel, Vitello, Nicolas, Detante, Olivier, Barbieux, Marianne, Boubagra, Kamel, Favre Wiki, Isabelle, Garambois, Katia, Tahon, Florence, Ashok, Vasdev, Coskun, Oguzhan, Rodesch, Georges, Lapergue, Bertrand, Bourdain, Frédéric, Evrard, Serge, Graveleau, Philippe, Decroix, Jean Pierre, Wang, Adrien, Sellal, François, Ahle, Guido, Carelli, Gabriela, Dugay, Marie-Hélène, Gaultier, Claude, Lebedinsky, Ariel Pablo, Lita, Lavinia, Musacchio, Raul Mariano, Renglewicz-Destuynder, Catherine, Tournade, Alain, Vuillemet, Françis, Montoro, Francisco Macian, Mounayer, Charbel, Faugeras, Frederic, Gimenez, Laetitia, Labach, Catherine, Lautrette, Géraldine, Denier, Christian, Saliou, Guillaume, Chassin, Olivier, Dussaule, Claire, Melki, Elsa, Ozanne, Augustin, Puccinelli, Francesco, Sachet, Marina, Sarov, Mariana, Bonneville, Jean-François, Moulin, Thierry, Biondi, Alessandra, De Bustos Medeiros, Elisabeth, Vuillier, Fabrice, Courtheoux, Patrick, Viader, Fausto, Apoil-Brissard, Marion, Bataille, Mathieu, Bonnet, Anne-Laure, Cogez, Julien, Touze, Emmanuel, Leclerc, Xavier, Leys, Didier, Aggour, Mohamed, Aguettaz, Pierre, Bodenant, Marie, Cordonnier, Charlotte, Deplanque, Dominique, Girot, Marie, Henon, Hilde, Kalsoum, Erwah, Lucas, Christian, Pruvo, Jean-Pierre, Zuniga, Paolo, Arquizan, Caroline, Costalat, Vincent, Machi, Paolo, Mourand, Isabelle, Riquelme, Carlos, Bounolleau, Pierre, Arteaga, Charles, Faivre, Anthony, Bintner, Marc, Tournebize, Patrice, Charlin, Cyril, Darcel, Françoise, Gauthier-Lasalarie, Pascale, Jeremenko, Marcia, Mouton, Servane, Zerlauth, Jean-Baptiste, Lamy, Chantal, Hervé, Deramond, Hassan, Hosseini, Gaston, André, Barral, Francis-Guy, Garnier, Pierre, Beaujeux, Rémy, Wolff, Valérie, Herbreteau, Denis, Debiais, Séverine, Murray, Alicia, Ford, Gary, Muir, Keith W, White, Philip, Brown, Martin M, Clifton, Andy, Freeman, Janet, Ford, Ian, Markus, Hugh, Wardlaw, Joanna, Molyneux, Andy, Robinson, Thompson, Lewis, Steff, Norrie, John, Robertson, Fergus, Perry, Richard, Dixit, Anand, Cloud, Geoffrey, Clifton, Andrew, Madigan, Jeremy, Roffe, Christine, Nayak, Sanjeev, Lobotesis, Kyriakos, Smith, Craig, Herwadkar, Amit, Kandasamy, Naga, Goddard, Tony, Bamford, John, Subramanian, Ganesh, Lenthall, Rob, Littleton, Edward, Lamin, Sal, Storey, Kelley, Ghatala, Rita, Banaras, Azra, Aeron-Thomas, John, Hazel, Bath, Maguire, Holly, Veraque, Emelda, Harrison, Louise, Keshvara, Rekha, Cunningham, James, Campbell, Bruce C V, van Zwam, Wim H, Menon, Bijoy K, Dippel, Diederik W J, Demchuk, Andrew M, Bracard, Serge, Dávalos, Antoni, Majoie, Charles B L M, Ford, Gary A, de la Ossa, Natalia Pérez, Kelly, Michael, Bourcier, Romain, Roos, Yvo B W E M, Bang, Oh Young, Nogueira, Raul G, Devlin, Thomas G, Clarençon, Frédéric, Burns, Paul, Carpenter, Jeffrey, Yavagal, Dileep R, Pereira, Vitor Mendes, Quesada, Helena, Epstein, Jonathan, Rubiera, Marta, Urra, Xabier, Micard, Emilien, Brown, Scott, Guillemin, Francis, van Oostenbrugge, Robert J, Jovin, Tudor G, and Hill, Michael D

Published
2018
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20. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

Author

Poggio, E., Barazzuol, L., Salmaso, A., Milani, C., Deligiannopoulou, A., Cazorla, A. G., Jang, S. S., Julia-Palacios, N., Keren, B., Kopajtich, R., Lynch, S. A., Mignot, C., Moorwood, C., Neuhofer, C., Nigro, V., Oostra, A., Prokisch, H., Saillour, V., Schuermans, N., Torella, A., Verloo, P., Yazbeck, E., Zollino, Marcella, Jech, R., Winkelmann, J., Necpal, J., Cali, T., Brini, M., Zech, M., Zollino M. (ORCID:0000-0003-4871-9519), Poggio, E., Barazzuol, L., Salmaso, A., Milani, C., Deligiannopoulou, A., Cazorla, A. G., Jang, S. S., Julia-Palacios, N., Keren, B., Kopajtich, R., Lynch, S. A., Mignot, C., Moorwood, C., Neuhofer, C., Nigro, V., Oostra, A., Prokisch, H., Saillour, V., Schuermans, N., Torella, A., Verloo, P., Yazbeck, E., Zollino, Marcella, Jech, R., Winkelmann, J., Necpal, J., Cali, T., Brini, M., Zech, M., and Zollino M. (ORCID:0000-0003-4871-9519)

Abstract

Purpose: ATP2B2 encodes the variant-constrained plasma-membrane calcium-transporting ATPase-2, expressed in sensory ear cells and specialized neurons. ATP2B2/Atp2b2 variants were previously linked to isolated hearing loss in patients and neurodevelopmental deficits with ataxia in mice. We aimed to establish the association between ATP2B2 and human neurological disorders. Methods: Multinational case recruitment, scrutiny of trio-based genomics data, in silico analyses, and functional variant characterization were performed. Results: We assembled 7 individuals harboring rare, predicted deleterious heterozygous ATP2B2 variants. The alleles comprised 5 missense substitutions that affected evolutionarily conserved sites and 2 frameshift variants in the penultimate exon. For 6 variants, a de novo status was confirmed. Unlike described patients with hearing loss, the individuals displayed a spectrum of neurological abnormalities, ranging from ataxia with dystonic features to complex neurodevelopmental manifestations with intellectual disability, autism, and seizures. Two cases with recurrent amino-acid variation showed distinctive overlap with cerebellar atrophy-associated ataxia and epilepsy. In cell-based studies, all variants caused significant alterations in cytosolic calcium handling with both loss- and gain-of-function effects. Conclusion: Presentations in our series recapitulate key phenotypic aspects of Atp2b2-mouse models and underline the importance of precise calcium regulation for neurodevelopment and cerebellar function. Our study documents a role for ATP2B2 variants in causing heterogeneous neurodevelopmental and movement-disorder syndromes.

Published
2023

21. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Author

Smallwood, K, Watt, KEN, Ide, S, Baltrunaite, K, Brunswick, C, Inskeep, K, Capannari, C, Adam, MP, Begtrup, A, Bertola, DR, Demmer, L, Demo, E, Devinsky, O, Gallagher, ER, Guillen Sacoto, MJ, Jech, R, Keren, B, Kussmann, J, Ladda, R, Lansdon, LA, Lunke, S, Mardy, A, McWalters, K, Person, R, Raiti, L, Saitoh, N, Saunders, CJ, Schnur, R, Skorvanek, M, Sell, SL, Slavotinek, A, Sullivan, BR, Stark, Z, Symonds, JD, Wenger, T, Weber, S, Whalen, S, White, SM, Winkelmann, J, Zech, M, Zeidler, S, Maeshima, K, Stottmann, RW, Trainor, PA, Weaver, KN, Smallwood, K, Watt, KEN, Ide, S, Baltrunaite, K, Brunswick, C, Inskeep, K, Capannari, C, Adam, MP, Begtrup, A, Bertola, DR, Demmer, L, Demo, E, Devinsky, O, Gallagher, ER, Guillen Sacoto, MJ, Jech, R, Keren, B, Kussmann, J, Ladda, R, Lansdon, LA, Lunke, S, Mardy, A, McWalters, K, Person, R, Raiti, L, Saitoh, N, Saunders, CJ, Schnur, R, Skorvanek, M, Sell, SL, Slavotinek, A, Sullivan, BR, Stark, Z, Symonds, JD, Wenger, T, Weber, S, Whalen, S, White, SM, Winkelmann, J, Zech, M, Zeidler, S, Maeshima, K, Stottmann, RW, Trainor, PA, and Weaver, KN

Abstract

Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. The predominant phenotypes observed in the cohort of 3 individuals were craniofacial anomalies reminiscent of Treacher Collins syndrome. We subsequently identified 17 additional individuals with 12 unique heterozygous variants in POLR1A and observed numerous additional phenotypes including neurodevelopmental abnormalities and structural cardiac defects, in combination with highly prevalent craniofacial anomalies and variable limb defects. To understand the pathogenesis of this pleiotropy, we modeled an allelic series of POLR1A variants in vitro and in vivo. In vitro assessments demonstrate variable effects of individual pathogenic variants on ribosomal RNA synthesis and nucleolar morphology, which supports the possibility of variant-specific phenotypic effects in affected individuals. To further explore variant-specific effects in vivo, we used CRISPR-Cas9 gene editing to recapitulate two human variants in mice. Additionally, spatiotemporal requirements for Polr1a in developmental lineages contributing to congenital anomalies in affected individuals were examined via conditional mutagenesis in neural crest cells (face and heart), the second heart field (cardiac outflow tract and right ventricle), and forebrain precursors in mice. Consistent with its ubiquitous role in the essential function of ribosome biogenesis, we observed that loss of Polr1a in any of these lineages causes cell-autonomous apoptosis resulting in embryonic malformations. Altogether, our work greatly expands the phenotype of human POLR1A-related disorders and demonstrates variant-specific effects that provide insights into the underlying pathogenesis of ribosomopathies.

Published
2023

22. Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.

Author

Reid, K.M., Steel, D., Nair, S., Bhate, S., Biassoni, L., Sudhakar, S., Heys, M., Burke, E., Kamsteeg, E.J., Hameed, B., Zech, M., Mencacci, N.E., Barwick, K., Topf, M., Kurian, Manju A., Reid, K.M., Steel, D., Nair, S., Bhate, S., Biassoni, L., Sudhakar, S., Heys, M., Burke, E., Kamsteeg, E.J., Hameed, B., Zech, M., Mencacci, N.E., Barwick, K., Topf, M., and Kurian, Manju A.

Abstract

Item does not contain fulltext, The human dopaminergic system is vital for a broad range of neurological processes, including the control of voluntary movement. Here we report a proband presenting with clinical features of dopamine deficiency: severe infantile parkinsonism-dystonia, characterised by frequent oculogyric crises, dysautonomia and global neurodevelopmental impairment. CSF neurotransmitter analysis was unexpectedly normal. Triome whole-genome sequencing revealed a homozygous variant (c.110C>A, (p.T37K)) in DRD1, encoding the most abundant dopamine receptor (D(1)) in the central nervous system, most highly expressed in the striatum. This variant was absent from gnomAD, with a CADD score of 27.5. Using an in vitro heterologous expression system, we determined that DRD1-T37K results in loss of protein function. Structure-function modelling studies predicted reduced substrate binding, which was confirmed in vitro. Exposure of mutant protein to the selective D(1) agonist Chloro APB resulted in significantly reduced cyclic AMP levels. Numerous D(1) agonists failed to rescue the cellular defect, reflected clinically in the patient, who had no benefit from dopaminergic therapy. Our study identifies DRD1 as a new disease-associated gene, suggesting a crucial role for the D(1) receptor in motor control.

Published
2023

23. Reconstructing the Paleo‐Ecological Diet of Snow Petrels (Pagodroma nivea) From Modern Samples and Fossil Deposits: Implications for Southern Ocean Paleoenvironmental Reconstructions

Author

Berg, S., primary, Emmerson, L., additional, Heim, C., additional, Buchta, E., additional, Fromm, T., additional, Glaser, B., additional, Hermichen, W.‐D., additional, Rethemeyer, J., additional, Southwell, C., additional, Wand, U., additional, Zech, M., additional, and Melles, M., additional

Published
2023
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26. Reconstructing the paleo-ecological diet of snow petrels (Pagodroma nivea) from modern samples and fossil deposits : implications for southern ocean paleoenvironmental reconstructions

Author

Berg, S., Emmerson, L., Heim, C., Buchta, E., Fromm, T., Glaser, Bruno, Hermichen, W.-D., Rethemeyer, J., Southwell, C., Wand, U., Zech, M., and Melles, Martin

Abstract

Snow petrels (Pagodroma nivea), which are endemic to the Antarctic region, produce proventricular stomach oil from ingested food for feeding purposes but also spit the oil in the immediate surrounds of the nests, where it forms encrustations over time (Antarctic mumiyo). These deposits provide a unique opportunity to understand the paleo-ecological diet of snow petrels and because the seabirds forage in the ocean, they potentially provide an archive of past marine environmental conditions in the Southern Ocean. For validating methods for reconstructions we use compositional data obtained on modern stomach oils and DNA data from fecal samples of snow petrels. We find that the distribution of carboxylic acid compounds in modern stomach oils and in the fossil deposits are consistent with variable contributions of fish and krill, which are the main constituents of modern snow petrel diet, and allows inference of past changes in snow petrel diet from the fossil record. Analyses of mumiyo deposits from six regions in East Antarctica reveal systematic differences in the isotopic composition of organic matter (δ13C and δ15N) and carboxylic acid patterns. This may suggest regional and/or temporal variability in the composition of snow petrels diet, likely differing in response to the prevailing environmental conditions in the foraging range of the birds, such as sea-ice variability, polynya activity and primary productivity. Our study provides confidence for using these approaches for broader scale paleo-studies in the future and for an assessment of the temporal changes and regional variability in snow petrel diet.

Published
2023
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27. Fermi Surface and Pseudogap Evolution in a Cuprate Superconductor

Author

He, Yang, Yin, Yi, Zech, M., Soumyanarayanan, Anjan, Yee, Michael M., Williams, Tess, Boyer, M. C., Chatterjee, Kamalesh, Wise, W. D., Zeljkovic, I., Kondo, Takeshi, Takeuchi, T., Ikuta, H., Mistark, Peter, Markiewicz, Robert S., Bansil, Arun, Sachdev, Subir, Hudson, E. W., and Hoffman, J. E.

Published
2014

28. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

Author

Zech, M., Kopajtich, R., Steinbrücker, K., Bris, C., Gueguen, N., Feichtinger, R.G., Achleitner, M.T., Duzkale, N., Périvier, M., Koch, J., Engelhardt, H., Freisinger, P., Wagner, M., Brunet, T., Berutti, R., Smirnov, D., Navaratnarajah, T., Rodenburg, R.J.T., Pais, L.S., Austin-Tse, C., O'Leary, M., Boesch, S., Jech, R., Bakhtiari, S., Jin, S.C., Wilbert, F., Kruer, M.C., Wortmann, S.B., Eckenweiler, M., Mayr, J.A., Distelmaier, F., Steinfeld, R., Winkelmann, J., Prokisch, H., Zech, M., Kopajtich, R., Steinbrücker, K., Bris, C., Gueguen, N., Feichtinger, R.G., Achleitner, M.T., Duzkale, N., Périvier, M., Koch, J., Engelhardt, H., Freisinger, P., Wagner, M., Brunet, T., Berutti, R., Smirnov, D., Navaratnarajah, T., Rodenburg, R.J.T., Pais, L.S., Austin-Tse, C., O'Leary, M., Boesch, S., Jech, R., Bakhtiari, S., Jin, S.C., Wilbert, F., Kruer, M.C., Wortmann, S.B., Eckenweiler, M., Mayr, J.A., Distelmaier, F., Steinfeld, R., Winkelmann, J., and Prokisch, H.

Abstract

Item does not contain fulltext, OBJECTIVE: ATP synthase (ATPase) is responsible for the majority of ATP production. Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare. We aimed at expanding the spectrum of ATPase-related diseases. METHODS: Whole-exome sequencing in cohorts with 2,962 patients diagnosed with mitochondrial disease and/or dystonia and international collaboration were used to identify deleterious variants in ATPase-encoding genes. Findings were complemented by transcriptional and proteomic profiling of patient fibroblasts. ATPase integrity and activity were assayed using cells and tissues from 5 patients. RESULTS: We present 10 total individuals with biallelic or de novo monoallelic variants in nuclear ATPase subunit genes. Three unrelated patients showed the same homozygous missense ATP5F1E mutation (including one published case). An intronic splice-disrupting alteration in compound heterozygosity with a nonsense variant in ATP5PO was found in one patient. Three patients had de novo heterozygous missense variants in ATP5F1A, whereas another 3 were heterozygous for ATP5MC3 de novo missense changes. Bioinformatics methods and populational data supported the variants' pathogenicity. Immunohistochemistry, proteomics, and/or immunoblotting revealed significantly reduced ATPase amounts in association to ATP5F1E and ATP5PO mutations. Diminished activity and/or defective assembly of ATPase was demonstrated by enzymatic assays and/or immunoblotting in patient samples bearing ATP5F1A-p.Arg207His, ATP5MC3-p.Gly79Val, and ATP5MC3-p.Asn106Lys. The associated clinical profiles were heterogeneous, ranging from hypotonia with spontaneous resolution (1/10) to epilepsy with early death (1/10) or variable persistent abnormalities, including movement disorders, developmental delay, intellectual disability, hyperlactatemia, and other neurologic and systemic features. Although potentially reflecting an ascertainment bias, dystonia was common (7/10). INTERPRETA

Published
2022

31. Onkologie I: Klinik

Author

Popella, Ch., Glanz, H., Kleinsasser, O., Kiefer, J., Knecht, R., Baum, R. P., Hertel, A., Steinhart, H., Heide, M., Zech, M., Heppt, W. J., Issing, W. J., Jungehülsing, M., Eckel, H. E., Volling, P., Smolarz, K., Stennert, E., Schicha, H., Heinritz, H., Nitsche, N., Hoffmann, K., Iro, H., Eßer, D., Meyer, W.-D., Willgeroth, Ch., Motsch, Ch., Reißer, Chr., Haberkorn, U., Strauss, L. G., Herter, M., Scheel, M., Kwok, P., Hauser, R., Strutz, J., Feyh, J., Haas, I., Bier, H., Harder, Th., Lippert, B. M., Werner, J. A., Rudert, H., Baumgart, F., Gewiese, B., Axhausen, M., Jäckel, M., Tausch-Treml, R., Köpf-Maier, P., Schröder, M., Kautzky, M., Schenk, P., Waldecker-Herrmann, P., Fritz, P., Maier, H., Feldmann, Harald, and Herberhold, Claus

Published
1993
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33. Validation of a coupled δ2Hn-alkane–δ18Osugar paleohygrometer approach based on a climate chamber experiment

Author

Hepp, J., Mayr. C., Rozanski, K., Schaefer, I.K., Tuthorn, M., Glaser, B., Juchelka, D., Stichler, W., Zech, R., and Zech, M.

Subjects
TheoryofComputation_MATHEMATICALLOGICANDFORMALLANGUAGES, TheoryofComputation_ANALYSISOFALGORITHMSANDPROBLEMCOMPLEXITY
Abstract

The hydrogen isotope composition of leaf-wax-derived biomarkers, e.g., long-chain n-alkanes (δ2Hn-alkane), is widely applied in paleoclimate. However, a direct reconstruction of the isotope composition of source water based on δ2Hn-alkane alone is challenging due to the enrichment of heavy isotopes during evaporation. The coupling of δ2Hn-alkane with δ18O of hemicellulose-derived sugars (δ18Osugar) has the potential to disentangle this limitation and additionally to allow relative humidity reconstructions. Here, we present δ2Hn-alkane as well as δ18Osugar results obtained from leaves of Eucalyptus globulus, Vicia faba, and Brassica oleracea, which grew under controlled conditions. We addressed the questions of (i) whether δ2Hn-alkane and δ18Osugar values allow reconstructions of leaf water isotope composition, (ii) how accurately the reconstructed leaf water isotope composition enables relative humidity (RH) reconstruction, and (iii) whether the coupling of δ2Hn-alkane and δ18Osugar enables a robust source water calculation. For all investigated species, the n-alkane n-C29 was most abundant and therefore used for compound-specific δ2H measurements. For Vicia faba, additionally the δ2H values of n-C31 could be evaluated robustly. Regarding hemicellulose-derived monosaccharides, arabinose and xylose were most abundant, and their δ18O values were therefore used to calculate weighted mean leaf δ18Osugar values. Both δ2Hn-alkane and δ18Osugar yielded significant correlations with δ2Hleaf water and δ18Oleaf water, respectively (r2=0.45 and 0.85, respectively; p, n=24). Mean fractionation factors between biomarkers and leaf water were found to be −156 ‰ (ranging from −133 ‰ to −192 ‰) for εn-alkane/leaf water and +27.3 ‰ (ranging from +23.0 ‰ to 32.3 ‰) for εsugar/leaf water, respectively. Modeled RHair values from a Craig–Gordon model using measured Tair, δ2Hleaf water and δ18Oleaf water as input correlate highly significantly with modeled RHair values (R2=0.84, p, RMSE = 6 %). When coupling δ2Hn-alkane and δ18Osugar values, the correlation of modeled RHair values with measured RHair values is weaker but still highly significant, with R2=0.54 (p, RMSE = 10 %). Finally, the reconstructed source water isotope composition (δ2Hs and δ18Os) as calculated from our coupled approach matches the source water in the climate chamber experiment (δ2Htank water and δ18Otank water). This highlights the great potential of the coupled δ2Hn-alkane–δ18Osugar paleohygrometer approach for paleoclimate and relative humidity reconstructions.

Published
2021

34. Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Author

Steel, D., Zech, M., Zhao, C., Barwick, K.E.S., Burke, D., Demailly, D., Kumar, K.R., Zorzi, G., Nardocci, N., Kaiyrzhanov, R., Wagner, M., Iuso, A., Berutti, R., Škorvánek, M., Necpál, J., Davis, R., Wiethoff, S., Mankad, K., Sudhakar, S., Ferrini, A., Sharma, S., Kamsteeg, E.J., Tijssen, Marina A. J., Verschuuren, C., Egmond, M.E. van, Flowers, J.M., McEntagart, M., Tucci, A., Coubes, P., Bustos, B.I., Gonzalez-Latapi, P., Tisch, S., Darveniza, P., Gorman, K.M., Peall, K.J., Bötzel, K., Koch, J.C., Kmieć, T., Plecko, B., Boesch, S., Haslinger, B., Jech, R., Garavaglia, B., Wood, N., Houlden, H., Gissen, P., Lubbe, S.J., Sue, C.M., Cif, L., Mencacci, N.E., Anderson, G., Kurian, M.A., and Winkelmann, J.

Subjects
Adult, Male, Vesicular Transport Proteins, Genetic Variation, Fibroblasts, Middle Aged, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pedigree, Lysosomal Storage Diseases, Dystonia, Cost of Illness, Mutation, Humans, Exome, Female, Genetic Predisposition to Disease
Abstract

Contains fulltext : 229267.pdf (Publisher’s version ) (Open Access) OBJECTIVES: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses. METHODS: We undertook weighted burden analysis of whole-exome sequencing (WES) data from 138 individuals with unresolved generalized dystonia of suspected genetic etiology, followed by additional case-finding from international databases, first for the gene implicated by the burden analysis (VPS16), and then for other functionally related genes. Electron microscopy was performed on patient-derived cells. RESULTS: Analysis revealed a significant burden for VPS16 (Fisher's exact test p value, 6.9 × 10(9) ). VPS16 encodes a subunit of the homotypic fusion and vacuole protein sorting (HOPS) complex, which plays a key role in autophagosome-lysosome fusion. A total of 18 individuals harboring heterozygous loss-of-function VPS16 variants, and one with a microdeletion, were identified. These individuals experienced early onset progressive dystonia with predominant cervical, bulbar, orofacial, and upper limb involvement. Some patients had a more complex phenotype with additional neuropsychiatric and/or developmental comorbidities. We also identified biallelic loss-of-function variants in VPS41, another HOPS-complex encoding gene, in an individual with infantile-onset generalized dystonia. Electron microscopy of patient-derived lymphocytes and fibroblasts from both patients with VPS16 and VPS41 showed vacuolar abnormalities suggestive of impaired lysosomal function. INTERPRETATION: Our study strongly supports a role for HOPS complex dysfunction in the pathogenesis of dystonia, although variants in different subunits display different phenotypic and inheritance characteristics. ANN NEUROL 2020;88:867-877.

Published
2020

38. Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Author

Steel, D, Zech, M, Zhao, C, Barwick, KES, Burke, D, Demailly, D, Kumar, KR, Zorzi, G, Nardocci, N, Kaiyrzhanov, R, Wagner, M, Iuso, A, Berutti, R, Škorvánek, M, Necpál, J, Davis, R, Wiethoff, S, Mankad, K, Sudhakar, S, Ferrini, A, Sharma, S, Kamsteeg, E-J, Tijssen, MA, Verschuuren, C, van Egmond, ME, Flowers, JM, McEntagart, M, Tucci, A, Coubes, P, Bustos, BI, Gonzalez-Latapi, P, Tisch, S, Darveniza, P, Gorman, KM, Peall, KJ, Bötzel, K, Koch, JC, Kmieć, T, Plecko, B, Boesch, S, Haslinger, B, Jech, R, Garavaglia, B, Wood, N, Houlden, H, Gissen, P, Lubbe, SJ, Sue, CM, Cif, L, Mencacci, NE, Anderson, G, Kurian, MA, Winkelmann, J, and Genomics England Research Consortium

Abstract

OBJECTIVES: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses. METHODS: We undertook weighted burden analysis of whole-exome sequencing (WES) data from 138 individuals with unresolved generalized dystonia of suspected genetic etiology, followed by additional case-finding from international databases, first for the gene implicated by the burden analysis (VPS16), and then for other functionally related genes. Electron microscopy was performed on patient-derived cells. RESULTS: Analysis revealed a significant burden for VPS16 (Fisher's exact test p value, 6.9 × 109 ). VPS16 encodes a subunit of the homotypic fusion and vacuole protein sorting (HOPS) complex, which plays a key role in autophagosome-lysosome fusion. A total of 18 individuals harboring heterozygous loss-of-function VPS16 variants, and one with a microdeletion, were identified. These individuals experienced early onset progressive dystonia with predominant cervical, bulbar, orofacial, and upper limb involvement. Some patients had a more complex phenotype with additional neuropsychiatric and/or developmental comorbidities. We also identified biallelic loss-of-function variants in VPS41, another HOPS-complex encoding gene, in an individual with infantile-onset generalized dystonia. Electron microscopy of patient-derived lymphocytes and fibroblasts from both patients with VPS16 and VPS41 showed vacuolar abnormalities suggestive of impaired lysosomal function. INTERPRETATION: Our study strongly supports a role for HOPS complex dysfunction in the pathogenesis of dystonia, although variants in different subunits display different phenotypic and inheritance characteristics. ANN NEUROL 2020;88:867-877.

Published
2020

39. Revisiting afro-alpine Lake Garba Guracha in the Bale Mountains of Ethiopia: rationale, chronology, geochemistry, and paleoenvironmental implications

Author

Bittner, L., Bliedtner, M., Grady, D., Gil-Romera, G., Martin-Jones, C., Lemma, B., Mekonnen, B., Lamb, H. F., Yang, H., Glaser, B., Szidat, S., Salazar, G., Rose, N. L., Opgenoorth, L., Miehe, G., Zech, W., Zech, M., Heisenberg Chair of Physical Geography with Focus on Paleoenvironmental Research, Institute of Geography, Technical University of Dresden, Dresden, Germany, Department of Physical Geography, Institute of Geography, Friedrich-Schiller-University Jena, Jena, Germany, Department of Geography and Earth Sciences, Aberystwyth University, Aberystwyth, UK, Department of Geo-Environmental Processes and Global Change, CSIC, Pyrenean Institute of Ecology, Zaragoza, Spain, Limnology Unit, Department of Biology, Ghent University, Gent, Belgium, Institute of Agronomy and Nutritional Sciences, Soil Biogeochemistry, Martin-Luther-Universität Halle-Wittenberg, Halle, Germany, Environmental Change Research Centre, University College London, London, UK, Department of Chemistry and Biochemistry and Oeschger Centre for Climate Change Research, University of Bern, Bern, Switzerland, Department of Geography, University of Marburg, Marburg, Germany, Institute of Soil Science and Soil Geography, University of Bayreuth, Bayreuth, Germany, Bittner, L [0000-0003-2521-5596], Apollo - University of Cambridge Repository, and Bittner, L. [0000-0003-2521-5596]

Subjects
Radiocarbon dating, 010506 paleontology, 010504 meteorology & atmospheric sciences, Sedimentation rate, Aquatic Science, 01 natural sciences, law.invention, law, 540 Chemistry, Paleoclimatology, Afro-alpine, Sedimentary organic matter, Glacial period, Younger Dryas, Paleolimnology, Sedimentology, Holocene, 0105 earth and related environmental sciences, Earth-Surface Processes, Original Paper, ddc:551, XRF scanning, 570 Life sciences, biology, Physical geography, Geology, Biomarkers, Chronology
Abstract

Previous paleolimnological studies demonstrated that the sediments of Garba Guracha, situated at 3950 m asl in the afro-alpine zone of the Bale Mountains of Ethiopia, provide a complete Late Glacial and Holocene paleoclimate and environmental archive. We revisited Garba Guracha in order to retrieve new sediment cores and to apply new environmental proxies, e.g. charcoal, diatoms, biomarkers, and stable isotopes. Our chronology is established using 210Pb dating and radiocarbon dating of bulk sedimentary organic matter, bulk n-alkanes, and charcoal. Although bedrock was not reached during coring, basal ages confirm that sedimentation started at the earliest ~ 16 cal kyr BP. The absence of a systematic age offset for the n-alkanes suggests that “pre-aging” is not a prominent issue in this lake, which is characterised by a very small afro-alpine catchment. X-ray fluorescence scans and total organic carbon contents show a prominent transition from minerogenic to organic-rich sediments around 11 cal kyr BP coinciding with the Holocene onset. While an unambiguous terrestrial versus aquatic source identification seems challenging, the n-alkane-based Paq proxy, TOC/N ratios, δ13C values, and the sugar biomarker patterns suggest a predominantly autochthonous organic matter source. Supraregional climate events, such as the African Humid Period, the Younger Dryas (YD), a 6.5 cal kyr BP short drying event, and the 4.2 cal kyr BP transition to overall drier climate are recorded in our archive. The Garba Guracha record suggests that northern hemisphere forcings played a role in the Eastern African highland paleoclimate., Deutsche Forschungsgemeinschaft http://dx.doi.org/10.13039/501100001659

Published
2020
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45. Atypical presentations of DYT1 dystonia with acute craniocervical onset

Author

Pavelekova, P., primary, Jech, R., additional, Zech, M., additional, Krepelova, A., additional, Han, V., additional, Mosejova, A., additional, Liba, Z., additional, Urgosik, D., additional, Gdovinova, Z., additional, Havrankova, P., additional, Fecikova, A., additional, Winkelmann, J., additional, and Skorvanek, M., additional

Published
2021
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46. Revisiting afro-alpine Lake Garba Guracha in the Bale Mountains of Ethiopia: rationale, chronology, geochemistry, and paleoenvironmental implications

Author

Bittner, L., primary, Bliedtner, M., additional, Grady, D., additional, Gil-Romera, G., additional, Martin-Jones, C., additional, Lemma, B., additional, Mekonnen, B., additional, Lamb, H. F., additional, Yang, H., additional, Glaser, B., additional, Szidat, S., additional, Salazar, G., additional, Rose, N. L., additional, Opgenoorth, L., additional, Miehe, G., additional, Zech, W., additional, and Zech, M., additional

Published
2020
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48. Editorial: E&G Quaternary Science Journal - a community-based open-access journal

Author

Luethgens, C, Sauer, D, Zech, M, Briant, B, Brown, E, Dietze, E, Fuchs, M, Klasen, N, Lukas, S, May, J-H, Meister, J, Reimann, T, Rixhon, G, Ruszkiczay-Ruediger, Z, Salcher, B, Sprafke, T, Unkel, I, von Suchodoletz, H, Zeeden, C, Luethgens, C, Sauer, D, Zech, M, Briant, B, Brown, E, Dietze, E, Fuchs, M, Klasen, N, Lukas, S, May, J-H, Meister, J, Reimann, T, Rixhon, G, Ruszkiczay-Ruediger, Z, Salcher, B, Sprafke, T, Unkel, I, von Suchodoletz, H, and Zeeden, C

Published
2020

49. Revisiting Mt. Kilimanjaro: Do n-alkane biomarkers in soils reflect the δ2H isotopic composition of precipitation?

Author

Zech, M., Zech, R., Rozanski, K., Hemp, A., Gleixner, G., and Zech, W.

Abstract

During the last decade compound-specific deuterium (δ2H) analysis of plant leaf wax-derived n-alkanes has become a promising and popular tool in paleoclimate research. This is based on the widely accepted assumption that n-alkanes in soils and sediments generally reflect δ2H of precipitation (δ2Hprec). Recently, several authors suggested that δ2H of n-alkanes (δ2H,sub>n-alkanes) can also be used as proxy in paleoaltimetry studies. Here we present results from a δ2H transect study (~1500 to 4000 m a.s.l.) carried out on precipitation and soil samples taken from the humid southern slopes of Mt. Kilimanjaro. Contrary to earlier suggestions, a distinct altitude effect in δ2Hprec is present above ~2000 m a.s.l., i.e. δ2Hprec values become more negative with increasing altitude. The compound-specific δ2H values of nC27 and nC29 do not confirm this altitudinal trend, but rather become more positive both in the O-layers (organic layers) and the Ah-horizons (mineral topsoils). Although our δ2Hn-alkane results are in agreement with previously published results from the southern slopes of Mt. Kilimanjaro (Peterse et al., 2009, BG, 6, 2799–2807), a major re-interpretation is required given that the δ2Hn-alkane results do not reflect the δ2Hprec results. The theoretical framework for this re-interpretation is based on the evaporative isotopic enrichment of leaf water associated with transpiration process. Modelling results show that relative humidity, decreasing considerably along the southern slopes of Mt. Kilimanjaro (from 78% at ~ 2000 m a.s.l. to 51% at 4000 m a.s.l.), strongly controls δ2Hleaf water. The modelled δ2H leaf water enrichment along the altitudinal transect matches well the measured 2H leaf water enrichment as assessed by using the δ2Hprec and δ2Hn-alkane results and biosynthetic fractionation during n-alkane biosynthesis in leaves. Given that our results clearly demonstrate that n-alkanes in soils do not simply reflect δ2Hprec but rather δ2Hleaf water, we conclude that care has to be taken not to over-interpret δ2Hn-alkane records from soils and sediments when reconstructing δ2H of paleoprecipitation. Both in paleoaltimetry and in paleoclimate studies changes in relative humidity and consequently in δ2Hn-alkane values can completely mask altitudinally or climatically-controlled changes in δ2Hprec.

Published
2018

50. Technical Note: n-Alkane lipid biomarkers in loess: post-sedimentary or syn-sedimentary?

Author

Zech, M., Kreutzer, S., Goslar, T., Meszner, S., Krause, T., Faust, D., and Fuchs, M.

Abstract

There is an ongoing discussion whether n-alkane biomarkers – and organic matter (OM) from loess in general – reflect a syn-sedimentary paleoenvironmental and paleoclimate signal or whether they are significantly a post-sedimentary feature contaminated by root-derived OM. We present first radiocarbon data for the n-alkane fraction of lipid extracts and for the first time luminescence ages for the Middle to Late Weichselian loess-paleosol sequence of Gleina in Saxony, Germany. Comparison of these biomarker ages with sedimentation ages as assessed by optically stimulated luminescence (OSL) dating shows that one n-alkane sample features a syn-sedimentary age (14C: 29.2 ± 1.4 kyr cal BP versus OSL: 27.3 ± 3.0 kyr). By contrast, the 14C ages derived from the other n-alkane samples are clearly younger (20.3 ± 0.7 kyr cal BP, 22.1 ± 0.7 kyr cal BP and 29.8 ± 1.4 kyr cal BP) than the corresponding OSL ages (26.6 ± 3.1 kyr, 32.0 ± 3.5 kyr and 45.6 ± 5.3 kyr). This finding suggests that a post-sedimentary n-alkane contamination presumably by roots has occurred. In order to estimate the post-sedimentary n-alkane contamination more quantitatively, we applied a 14C mass balance calculation based on the measured pMC (percent modern carbon) values, the calculated syn-sedimentary pMC values and pMC values suspected to reflect likely time points of post-sedimentary contamination (current, modern, 3 kyr, 6 kyr and 9 kyr). Accordingly, current and modern root-contamination would account for up to 7%, a 3 kyr old root-contamination for up to 10%, and an Early and Middle Holocene root-contamination for up to 20% of the total sedimentary n-alkane pool. We acknowledge and encourage that these first radiocarbon results need further confirmation both from other loess-paleosol sequences and for different biomarkers, e.g. carboxylic acids or alcohols as further lipid biomarkers.

Published
2018

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