Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients von Rudnik-Schöneborn, S., Tölle, D., Senderek, J., Eggermann, K., Elbracht, M., Kornak, U., von der Hagen, M., Kirschner, J., Leube, B., Müller-Felber, W., Schara, U., von Au, K., Wieczorek, D., Bußmann, C., Zerres, K.

Volltext

G.P.192 von Radke, J, von Au, K, Dreesmann, M, von Pein, H, Stenzel, W, Goebel, H.H

Volltext

Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1) von Kaindl, A M, Guenther, U-P, Rudnik-Schöneborn, S, Varon, R, Zerres, K, Gressens, P, Schuelke, M, Hubner, C, von Au, K

Volltext

Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis von Nikolaus, Marc, Rausch, Philipp, Rostásy, Kevin, Bertolini, Annikki, Wickström, Ronny, Johannsen, Jessika, Denecke, Jonas, Breu, Markus, Schimmel, Mareike, Diepold, Katharina, Haeusler, Martin, Quade, Annegret, Berger, Andrea, Rosewich, Hendrik, Steen, Claudia, von Au, Katja, Dreesmann, Mona, Finke, Carsten, Bartels, Frederik, Kaindl, Angela M., Schuelke, Markus, Knierim, Ellen

Volltext

Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy von Jablonka, Sibylle, Karle, Kathrin, Sandner, Beatrice, Andreassi, Catia, von Au, Katja, Sendtner, Michael

Volltext

L’amyotrophie spinale distale de type 1 (DSMA1 ou SMARD1) von Kaindl, A.M., Guenther, U.-P., Rudnik-Schöneborn, S., Varon, R., Zerres, K., Gressens, P., Schuelke, M., Hubner, C., von Au, K.

Volltext

G.P.192: Muscle heart brain disease in 3 of 4 siblings von Radke, J., von Au, K., Dreesmann, M., von Pein, H., Stenzel, W., Goebel, H.H.

Volltext

NMP05 Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in IGHMBP2 gene von Barisic, N, von Au, K, Rados, M, Pazanin, L, Galic, S, Cvitkovic, M, Novak, M, Lochmüller, H, Sperling, K, Lehman, I, Varon, R

Volltext

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception von Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M, Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J, Nahorski, Michael S, Shaikh, Samiha S, Carvalho, Ofélia P, Nicholas, Adeline K, Karbani, Gulshan, McAleer, Maeve A, Cilio, Maria Roberta, McHugh, John C, Murphy, Sinead M, Irvine, Alan D, Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L H, Woods, C Geoffrey, Senderek, Jan

Volltext

N.I.5 Clinical and pathophysiological concepts of spinal muscular atrophy with relaxatio diaphragmatica (SMARD1) von von Au-Grohmann, K.

Volltext

Comparison of the disease course of two patients with SMARD1 von Schlicke, M, Polster, T, Albani, M, Huebner, C, von Au, K

Volltext

N.P.2 08 Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene von Barisic, N., von Au, K., Rados, M., Pazanin, L., Galic, S., Cvitkovic, M., Novak, M., Lochmueller, H., Sperling, K., Lehman, I., Varon, R.

Volltext

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2 von Cottenie, E, Kochanski, A, Jordanova, A, Bansagi, B, Zimon, M, Horga, A, Jaunmuktane, Z, Saveri, P, Rasic, VM, Baets, J, Bartsakoulia, M, Ploski, R, Teterycz, P, Nikolic, M, Quinlivan, R, Laura, M, Sweeney, MG, Taroni, F, Lunn, MP, Moroni, I, Gonzalez, M, Hanna, MG, Bettencourt, C, Chabrol, E, Franke, A, von Au, K, Schilhabel, M, Kabzińska, D, Hausmanowa-Petrusewicz, I, Brandner, S, Lim, SC, Song, H, Choi, BO, Horvath, R, Chung, KW, Zuchner, S, Pareyson, D, Harms, M, Reilly, MM, Houlden, H

Volltext bestellen

CeO2−x nanorods with intrinsic urease-like activity von Korschelt, K, Schwidetzky, R, Pfitzner, F, Strugatchi, J, Schilling, C, von der Au, M, Kirchhoff, K, Panthöfer, M, Lieberwirth, I, Tahir, M N, Hess, C, Meermann, B, Tremel, W

Volltext

Obeticholic acid for the treatment of non-alcoholic steatohepatitis: interim analysis from a multicentre, randomised, placebo-controlled phase 3 trial von Goodman, Zachary, Sheikh, Muhammad Y, Mazzella, Giuseppe, Gluud, Lise Lotte, Shapiro, David, Campagna, Jason, Shringarpure, Reshma, Abdelmalek, Manal, Aigner, Elmar, Alazawi, William, Allison, Michael, Andreone, Pietro, Arenas Ruiz, Juan Ignacio, Arkkila, Perttu, Berenguer, Marina, Bradley, David, Braun, Marius, Bruno, Savino, Calderon, Amy, Carey, Elizabeth, Cave, Matthew, Cruz Pereira, Oscar, de Ledinghen, Victor, Dufour, Jean-François, Falcone, Robert, Ferreira, Jose, Finnegan, Kevin, Francque, Sven, Freilich, Bradley, Frias, Juan, Fuchs, Michael, Fuentes, Javier, Geerts, Anja, Geier, Andreas, George, Jacob, Gholam, Pierre, Goff, John, Gordon, Frederic, Greer, Shaun, Gunaratnam, Naresh, Harrison, Stephen, Hartleb, Marek, Heurich, Eva, Holland Fischer, Peter, Jeffers, Lennox, Kaita, Kelly, Kechagias, Stergios, Knapple, Whitfield, Korenblat, Kevin, Krag, Aleksander, Krause, Richard, Krok, Karen, Kuwada, Scott, Lee, Alice, Long, Michelle, Lurie, Yoav, Macedo, Guilherme, Mantry, Parvez, Marinho, Carla, Marschall, Hanns-Ulrich, McCullen, Mark, Molina, Esther, Montano-Loza, Aldo, Monteverde, Carlos, Muellhaupt, Beat, Naik, Jahnavi, Nguyen-Khac, Eric, Olveira, Antonio, Orr, David, Paredes, Angelo, Patel, Joykumar, Patel, Keyur, Piekarska, Anna, Pyrsopoulos, Nikolaos, Rafiq, Nila, Muller, Kate, Riera, Andres, Rinella, Mary, Rivera Acosta, Jose, Rushbrook, Simon, Ryan, Michael, Salminen, Kimmo, Schneider, Jeffrey, Sheikh, Aasim, Sheridan, David, Sherman, Kenneth, Siddique, Asma, Solis, Joel, Strasser, Simone, Svorcan, Petar, Talal, Andrew, Thuluvath, Paul, Tsochatzis, Emanuel, Veitsman, Ella, Vespasiani Gentilucci, Umberto, Victor, David, von der Ohe, Manfred, Waters, Michael, Wieland, Amanda, Yataco, Maria

Volltext

A mutation in the viral sensor 2'-5'-oligoadenylate synthetase 2 causes failure of lactation von Oakes, Samantha R, Gallego-Ortega, David, Stanford, Prudence M, Junankar, Simon, Au, Wendy Wing Yee, Kikhtyak, Zoya, von Korff, Anita, Sergio, Claudio M, Law, Andrew M K, Castillo, Lesley E, Allerdice, Stephanie L, Young, Adelaide I J, Piggin, Catherine, Whittle, Belinda, Bertram, Edward, Naylor, Matthew J, Roden, Daniel L, Donovan, Jesse, Korennykh, Alexei, Goodnow, Christopher C, O'Bryan, Moira K, Ormandy, Christopher J

Volltext

DNA methylation profiling to predict recurrence risk in meningioma: development and validation of a nomogram to optimize clinical management von Nassiri, Farshad, Mamatjan, Yasin, Suppiah, Suganth, Badhiwala, Jetan H, Mansouri, Sheila, Karimi, Shirin, Saarela, Olli, Poisson, Laila, Gepfner-Tuma, Irina, Schittenhelm, Jens, Ng, Ho-Keung, Noushmehr, Houtan, Harter, Patrick, Baumgarten, Peter, Weller, Michael, Preusser, Matthias, Herold-Mende, Christel, Tatagiba, Marcos, Tabatabai, Ghazaleh, Sahm, Felix, von Deimling, Andreas, Zadeh, Gelareh, Aldape, Kenneth D

Volltext

Imaging and diagnostic advances for intracranial meningiomas von Huang, Raymond Y, Bi, Wenya Linda, Griffith, Brent, Kaufmann, Timothy J, la Fougère, Christian, Schmidt, Nils Ole, Tonn, Jöerg C, Vogelbaum, Michael A, Wen, Patrick Y, Aldape, Kenneth, Nassiri, Farshad, Zadeh, Gelareh, Dunn, Ian F

Volltext

Advances in multidisciplinary therapy for meningiomas von Brastianos, Priscilla K, Galanis, Evanthia, Butowski, Nicholas, Chan, Jason W, Dunn, Ian F, Goldbrunner, Roland, Herold-Mende, Christel, Ippen, Franziska M, Mawrin, Christian, McDermott, Michael W, Sloan, Andrew, Snyder, James, Tabatabai, Ghazaleh, Tatagiba, Marcos, Tonn, Joerg C, Wen, Patrick Y, Aldape, Kenneth, Nassiri, Farshad, Zadeh, Gelareh, Jenkinson, Michael D, Raleigh, David R

Volltext

Enhanced neutralizing antibody titers and Th1 polarization from a novel Escherichia coli derived pandemic influenza vaccine von Skibinski, David A G, Hanson, Brendon J, Lin, Yufang, von Messling, Veronika, Jegerlehner, Andrea, Tee, Jason Boon Sern, Chye, De Hoe, Wong, Steven K K, Ng, Amanda A P, Lee, Hui Yin, Au, Bijin, Lee, Bernett T K, Santoso, Lucia, Poidinger, Michael, Fairhurst, Anna-Marie, Matter, Alex, Bachmann, Martin F, Saudan, Philippe, Connolly, John E

Volltext