The definition of neuronopathic Gaucher disease

por Schiffmann, Raphael, Sevigny, Jeff, Rolfs, Arndt, Davies, Elin Haf, Goker‐Alpan, Ozlem, Abdelwahab, Magy, Vellodi, Ashok, Mengel, Eugen, Lukina, Elena, Yoo, Han‐Wook, Collin‐Histed, Tanya, Narita, Aya, Dinur, Tama, Revel‐Vilk, Shoshana, Arkadir, David, Szer, Jeff, Wajnrajch, Michael, Ramaswami, Uma, Sidransky, Ellen, Donald, Aimee, Zimran, Ari
Publicado 2020

SARS‐CoV‐2 targets neurons of 3D human brain organoids

por Ramani, Anand, Müller, Lisa, Ostermann, Philipp N, Gabriel, Elke, Abida‐Islam, Pranty, Müller‐Schiffmann, Andreas, Mariappan, Aruljothi, Goureau, Olivier, Gruell, Henning, Walker, Andreas, Andrée, Marcel, Hauka, Sandra, Houwaart, Torsten, Dilthey, Alexander, Wohlgemuth, Kai, Omran, Heymut, Klein, Florian, Wieczorek, Dagmar, Adams, Ortwin, Timm, Jörg, Korth, Carsten, Schaal, Heiner, Gopalakrishnan, Jay
Publicado 2020

SEVTAR—A multicenter randomized controlled trial to investigate the impact of prophylactic endoluminal placed vacuum sponge for prevention of anastomotic leakage after low rectal r...

por Schiffmann, Leif, Becker, Matthias, Develing, Leendert, Varga-Szabo, David, Scheidereiter-Krüger, Caroline, Zirngibl, Hubert, Seifert, Michael, Biermann, Lothar, Schlüter, Claudia, Tumczak, Felicitas, Weimann, Arved, Jansen-Winkeln, Boris, Wallstabe, Ingo, Schwandner, Frank, Denecke, Sandra, Schafmayer, Clemens, Kamaleddine, Imad, Stier, Albrecht, Haegele, Katharina, Kindler, Michael, Michling, Sabine, Horling, Ernst-Wilhelm, Denzer, Ulrike
Publicado 2023

Pharmacological prion protein silencing accelerates central nervous system autoimmune disease via T cell receptor signalling

por Hu, Wei, Nessler, Stefan, Hemmer, Bernhard, Eagar, Todd N., Kane, Lawrence P., Leliveld, S. Rutger, Müller-Schiffmann, Andreas, Gocke, Anne R., Lovett-Racke, Amy, Ben, Li-Hong, Hussain, Rehana Z., Breil, Andreas, Elliott, Jeffrey L., Puttaparthi, Krishna, Cravens, Petra D., Singh, Mahendra P., Petsch, Benjamin, Stitz, Lothar, Racke, Michael K., Korth, Carsten, Stüve, Olaf
Publicado 2010

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

por Benjamin, Elfrida R., Della Valle, Maria Cecilia, Wu, Xiaoyang, Katz, Evan, Pruthi, Farhana, Bond, Sarah, Bronfin, Benjamin, Williams, Hadis, Yu, Julie, Bichet, Daniel G., Germain, Dominique P., Giugliani, Roberto, Hughes, Derralynn, Schiffmann, Raphael, Wilcox, William R., Desnick, Robert J., Kirk, John, Barth, Jay, Barlow, Carrolee, Valenzano, Kenneth J., Castelli, Jeff, Lockhart, David J.
Publicado 2017

A Polar Corundum Oxide Displaying Weak Ferromagnetism at Room Temperature

por Li, Man-Rong, Adem, Umut, McMitchell, Sean R. C., Xu, Zhongling, Thomas, Chris I., Warren, John E., Giap, Duong V., Niu, Hongjun, Wan, Xinming, Palgrave, Robert G., Schiffmann, Florian, Cora, Furio, Slater, Ben, Burnett, Tim L., Cain, Markys G., Abakumov, Artem M., van Tendeloo, Gustaaf, Thomas, Michael F., Rosseinsky, Matthew J., Claridge, John B.
Publicado 2012

Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified D...

por Hughes, Derralynn A, Aguiar, Patricio, Deegan, Patrick B, Ezgu, Fatih, Frustaci, Andrea, Lidove, Olivier, Linhart, Aleš, Lubanda, Jean-Claude, Moon, James C, Nicholls, Kathleen, Niu, Dau-Ming, Nowak, Albina, Ramaswami, Uma, Reisin, Ricardo, Rozenfeld, Paula, Schiffmann, Raphael, Svarstad, Einar, Thomas, Mark, Torra, Roser, Vujkovac, Bojan, Warnock, David G, West, Michael L, Johnson, Jack, Rolfe, Mark J, Feriozzi, Sandro
Publicado 2020

Age-related shift in LTD is dependent on neuronal adenosine A(2A) receptors interplay with mGluR5 and NMDA receptors

por Temido-Ferreira, Mariana, Ferreira, Diana G., Batalha, Vânia L., Marques-Morgado, Inês, Coelho, Joana E., Pereira, Pedro, Gomes, Rui, Pinto, Andreia, Carvalho, Sara, Canas, Paula M., Cuvelier, Laetitia, Buée-Scherrer, Valerie, Faivre, Emilie, Baqi, Younis, Müller, Christa E., Pimentel, José, Schiffmann, Serge N., Buée, Luc, Bader, Michael, Outeiro, Tiago F., Blum, David, Cunha, Rodrigo A., Marie, Hélène, Pousinha, Paula A., Lopes, Luísa V.
Publicado 2018

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

por Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E., Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G., Boles, Richard G., Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A., Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa
Publicado 2016

Misassembly of full-length Disrupted-in-Schizophrenia 1 protein is linked to altered dopamine homeostasis and behavioral deficits

por Trossbach, S V, Bader, V, Hecher, L, Pum, M E, Masoud, S T, Prikulis, I, Schäble, S, de Souza Silva, M A, Su, P, Boulat, B, Chwiesko, C, Poschmann, G, Stühler, K, Lohr, K M, Stout, K A, Oskamp, A, Godsave, S F, Müller-Schiffmann, A, Bilzer, T, Steiner, H, Peters, P J, Bauer, A, Sauvage, M, Ramsey, A J, Miller, G W, Liu, F, Seeman, P, Brandon, N J, Huston, J P, Korth, C
Publicado 2016

Genome sequencing in persistently unsolved white matter disorders

por Helman, Guy, Lajoie, Bryan R., Crawford, Joanna, Takanohashi, Asako, Walkiewicz, Marzena, Dolzhenko, Egor, Gross, Andrew M., Gainullin, Vladimir G., Bent, Stephen J., Jenkinson, Emma M., Ferdinandusse, Sacha, Waterham, Hans R., Dorboz, Imen, Bertini, Enrico, Miyake, Noriko, Wolf, Nicole I., Abbink, Truus E. M., Kirwin, Susan M., Tan, Christina M., Hobson, Grace M., Guo, Long, Ikegawa, Shiro, Pizzino, Amy, Schmidt, Johanna L., Bernard, Genevieve, Schiffmann, Raphael, van der Knaap, Marjo S., Simons, Cas, Taft, Ryan J., Vanderver, Adeline
Publicado 2020

The Priority position paper: Protecting Europe's food chain from prions

por Requena, Jesús R., Kristensson, Krister, Korth, Carsten, Zurzolo, Chiara, Simmons, Marion, Aguilar-Calvo, Patricia, Aguzzi, Adriano, Andreoletti, Olivier, Benestad, Sylvie L., Böhm, Reinhard, Brown, Karen, Calgua, Byron, del Río, José Antonio, Espinosa, Juan Carlos, Girones, Rosina, Godsave, Sue, Hoelzle, Ludwig E., Knittler, Michael R., Kuhn, Franziska, Legname, Giuseppe, Laeven, Paul, Mabbott, Neil, Mitrova, Eva, Müller-Schiffmann, Andreas, Nuvolone, Mario, Peters, Peter J., Raeber, Alex, Roth, Klaus, Schmitz, Matthias, Schroeder, Björn, Sonati, Tiziana, Stitz, Lothar, Taraboulos, Albert, Torres, Juan María, Yan, Zheng-Xin, Zerr, Inga
Publicado 2016

Promoter Activation in Δhfq Mutants as an Efficient Tool for Specialized Metabolite Production Enabling Direct Bioactivity Testing

por Bode, Edna, Heinrich, Antje K., Hirschmann, Merle, Abebew, Desalegne, Shi, Yan‐Ni, Vo, Tien Duy, Wesche, Frank, Shi, Yi‐Ming, Grün, Peter, Simonyi, Svenja, Keller, Nadine, Engel, Yvonne, Wenski, Sebastian, Bennet, Reuel, Beyer, Sophie, Bischoff, Iris, Buaya, Anthony, Brandt, Sophie, Cakmak, Ibrahim, Çimen, Harun, Eckstein, Simone, Frank, Denia, Fürst, Robert, Gand, Martin, Geisslinger, Gerd, Hazir, Selcuk, Henke, Marina, Heermann, Ralf, Lecaudey, Virginie, Schäfer, Wilhelm, Schiffmann, Susanne, Schüffler, Anja, Schwenk, Rebecca, Skaljac, Marisa, Thines, Eckhard, Thines, Marco, Ulshöfer, Thomas, Vilcinskas, Andreas, Wichelhaus, Thomas A., Bode, Helge B.
Publicado 2019

Structural trends in atomic nuclei from laser spectroscopy of tin

por Yordanov, Deyan T., Rodríguez, Liss V., Balabanski, Dimiter L., Bieroń, Jacek, Bissell, Mark L., Blaum, Klaus, Cheal, Bradley, Ekman, Jörgen, Gaigalas, Gediminas, Garcia Ruiz, Ronald F., Georgiev, Georgi, Gins, Wouter, Godefroid, Michel R., Gorges, Christian, Harman, Zoltán, Heylen, Hanne, Jönsson, Per, Kanellakopoulos, Anastasios, Kaufmann, Simon, Keitel, Christoph H., Lagaki, Varvara, Lechner, Simon, Maaß, Bernhard, Malbrunot-Ettenauer, Stephan, Nazarewicz, Witold, Neugart, Rainer, Neyens, Gerda, Nörtershäuser, Wilfried, Oreshkina, Natalia S., Papoulia, Asimina, Pyykkö, Pekka, Reinhard, Paul-Gerhard, Sailer, Stefan, Sánchez, Rodolfo, Schiffmann, Sacha, Schmidt, Stefan, Wehner, Laura, Wraith, Calvin, Xie, Liang, Xu, Zhengyu, Yang, Xiaofei
Publicado 2020

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

por Hughes, Derralynn A, Nicholls, Kathleen, Shankar, Suma P, Sunder-Plassmann, Gere, Koeller, David, Nedd, Khan, Vockley, Gerard, Hamazaki, Takashi, Lachmann, Robin, Ohashi, Toya, Olivotto, Iacopo, Sakai, Norio, Deegan, Patrick, Dimmock, David, Eyskens, François, Germain, Dominique P, Goker-Alpan, Ozlem, Hachulla, Eric, Jovanovic, Ana, Lourenco, Charles M, Narita, Ichiei, Thomas, Mark, Wilcox, William R, Bichet, Daniel G, Schiffmann, Raphael, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Johnson, Franklin, Boudes, Pol, Benjamin, Elfrida R, Lockhart, David J, Barlow, Carrolee, Skuban, Nina, Castelli, Jeffrey P, Barth, Jay, Feldt-Rasmussen, Ulla
Publicado 2017

Conversion to Secondary Progressive Multiple Sclerosis: Patient Awareness and Needs. Results From an Online Survey in Italy and Germany

por Solari, Alessandra, Giovannetti, Ambra Mara, Giordano, Andrea, Tortorella, Carla, Torri Clerici, Valentina, Brichetto, Giampaolo, Granella, Franco, Lugaresi, Alessandra, Patti, Francesco, Salvetti, Marco, Pesci, Ilaria, Pucci, Eugenio, Centonze, Diego, Danni, Maura Chiara, Bonavita, Simona, Ferraro, Diana, Gallo, Antonio, Gajofatto, Alberto, Nociti, Viviana, Grimaldi, Luigi, Grobberio, Monica, Lanzillo, Roberta, Di Giovanni, Rachele, Gregori, Silvia, Manni, Alessia, Pietrolongo, Erika, Bertagnoli, Sarah, Ronzoni, Marco, Compagnucci, Laura, Fantozzi, Roberta, Allegri, Beatrice, Arena, Sebastiano, Buscarinu, Maria Chiara, Sabattini, Loredana, Quartuccio, Maria Esmeralda, Tsantes, Elena, Confaloneri, Paolo, Tacchino, Andrea, Schiffmann, Insa, Rahn, Anne Christin, Kleiter, Ingo, Messmer Uccelli, Michele, Barabasch, Anna, Heesen, Christoph, the ManTra Project
Publicado 2019

Large Shape Staggering in Neutron-Deficient Bi Isotopes

por Barzakh, A, Andreyev, A N, Raison, C, Cubiss, J G, Van Duppen, P, Péru, S, Hilaire, S, Goriely, S, Andel, B, Antalic, S, Al Monthery, M, Berengut, J C, Bieroń, J, Bissell, M L, Borschevsky, A, Chrysalidis, K, Cocolios, T E, Day Goodacre, T, Dognon, J -P, Elantkowska, M, Eliav, E, Farooq-Smith, G J, Fedorov, D V, Fedosseev, V N, Gaffney, L P, Garcia Ruiz, R F, Godefroid, M, Granados, C, Harding, R D, Heinke, R, Huyse, M, Karls, J, Larmonier, P, Li, J G, Lynch, K M, Maison, D E, Marsh, B A, Molkanov, P, Mosat, P, Oleynichenko, A V, Panteleev, V, Pyykkö, P, Reitsma, M L, Rezynkina, K, Rossel, R E, Rothe, S, Ruczkowski, J, Schiffmann, S, Seiffert, C, Seliverstov, M D, Sels, S, Skripnikov, L V, Stryjczyk, M, Studer, D, Verlinde, M, Wilman, S, Zaitsevskii, A V
Publicado 2021

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

por Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yohann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O’Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Geraldine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E.G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, van der Knaap, Marjo S., Livingston, John H., O’Keefe, Raymond T., Crow, Yanick J.
Publicado 2016

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

por Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève
Publicado 2020