Ausgabe 6/2020
Inhalt (11 Artikel)
Prevalence in Britain of abnormal prion protein in human appendices before and after exposure to the cattle BSE epizootic
O. Noel Gill, Yvonne Spencer, Angela Richard-Loendt, Carole Kelly, David Brown, Katy Sinka, Nick Andrews, Reza Dabaghian, Marion Simmons, Philip Edwards, Peter Bellerby, David J. Everest, Mark McCall, Linda M. McCardle, Jacqueline Linehan, Simon Mead, David A. Hilton, James W. Ironside, Sebastian Brandner
The structural differences between patient-derived α-synuclein strains dictate characteristics of Parkinson’s disease, multiple system atrophy and dementia with Lewy bodies
Anke Van der Perren, Géraldine Gelders, Alexis Fenyi, Luc Bousset, Filipa Brito, Wouter Peelaerts, Chris Van den Haute, Steve Gentleman, Ronald Melki, Veerle Baekelandt
Mutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export
Shaun Martin, Stefanie Smolders, Chris Van den Haute, Bavo Heeman, Sarah van Veen, David Crosiers, Igor Beletchi, Aline Verstraeten, Helena Gossye, Géraldine Gelders, Philippe Pals, Norin Nabil Hamouda, Sebastiaan Engelborghs, Jean-Jacques Martin, Jan Eggermont, Peter Paul De Deyn, Patrick Cras, Veerle Baekelandt, Peter Vangheluwe, Christine Van Broeckhoven, Chris van der Linden, Emke Maréchal, Patrick Santens, Wim Vandenberghe, Bruno Bergmans
PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment
Luca Kleineidam, Vincent Chouraki, Tomasz Próchnicki, Sven J. van der Lee, Laura Madrid-Márquez, Holger Wagner-Thelen, Ilker Karaca, Leonie Weinhold, Steffen Wolfsgruber, Anne Boland, Pamela V. Martino Adami, Piotr Lewczuk, Julius Popp, Frederic Brosseron, Iris E. Jansen, Marc Hulsman, Johannes Kornhuber, Oliver Peters, Claudine Berr, Reinhard Heun, Lutz Frölich, Christophe Tzourio, Jean-François Dartigues, Michael Hüll, Ana Espinosa, Isabel Hernández, Itziar de Rojas, Adelina Orellana, Sergi Valero, Najada Stringa, Natasja M. van Schoor, Martijn Huisman, Philip Scheltens, Luca Kleineidam, Ilker Karaca, Michael T. Heneka, Wolfgang Maier, Anja Schneider, Michael Wagner, Vincent Chouraki, Phillipe Amouyel, Jean-Charles Lambert, Tomasz Próchnicki, Eicke Latz, Sven J. van der Lee, Iris E. Jansen, Marc Hulsman, Philip Scheltens, Wiesje M. van der Flier, Henne Holstege, Laura Madrid-Márquez, Antonio González-Pérez, Mª Eugenia Sáez, Holger Wagner-Thelen, Pamela V. Martino Adami, Frank Jessen, Alfredo Ramirez, Leonie Weinhold, Matthias Schmid, Steffen Wolfsgruber, Frederic Brosseron, Anne Boland, Jean-Francois Deleuze, Piotr Lewczuk, Johannes Kornhuber, Julius Popp, Oliver Peters, Claudine Berr, Reinhard Heun, Lutz Frölich, Christophe Tzourio, Jean-François Dartigues, Michael Hüll, Ana Espinosa, Isabel Hernández, Itziar de Rojas, Adelina Orellana, Sergi Valero, Agustin Ruiz, Lluis Tarraga, Merce Boada, Najada Stringa, Natasja M. van Schoor, Martijn Huisman, Eckart Rüther, Jens Wiltfang, Martin Scherer, Steffi Riedel-Heller, Eckart Rüther, Jean-Francois Deleuze, Jens Wiltfang, Lluis Tarraga, Matthias Schmid, Martin Scherer, Steffi Riedel-Heller, Michael T. Heneka, Philippe Amouyel, Frank Jessen, Merce Boada, Wolfgang Maier, Anja Schneider, Antonio González-Pérez, Wiesje M. van der Flier, Michael Wagner, Jean-Charles Lambert, Henne Holstege, Mª Eugenia Sáez, Eicke Latz, Agustin Ruiz, Alfredo Ramirez
Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT-P301L mutation
Nathalie Daude, Chae Kim, Sang-Gyun Kang, Ghazaleh Eskandari-Sedighi, Tracy Haldiman, Jing Yang, Shelaine C. Fleck, Erik Gomez-Cardona, Zhuang Zhuang Han, Sergi Borrego-Ecija, Serene Wohlgemuth, Olivier Julien, Holger Wille, Laura Molina-Porcel, Ellen Gelpi, Jiri G. Safar, David Westaway
Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition
Gourish Mondal, Julieann C. Lee, Ajay Ravindranathan, Javier E. Villanueva-Meyer, Quynh T. Tran, Sariah J. Allen, Jairo Barreto, Rohit Gupta, Pamela Doo, Jessica Van Ziffle, Courtney Onodera, Patrick Devine, James P. Grenert, David Samuel, Rong Li, Laura K. Metrock, Lee-way Jin, Reuben Antony, Mouied Alashari, Samuel Cheshier, Nicholas S. Whipple, Carol Bruggers, Corey Raffel, Nalin Gupta, Cassie N. Kline, Alyssa Reddy, Anu Banerjee, Matthew D. Hall, Minesh P. Mehta, Ziad Khatib, Ossama M. Maher, Carole Brathwaite, Melike Pekmezci, Joanna J. Phillips, Andrew W. Bollen, Tarik Tihan, John T. Lucas Jr, Alberto Broniscer, Mitchel S. Berger, Arie Perry, Brent A. Orr, David A. Solomon
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
Alexander Kushnir, Joshua J. Todd, Jessica W. Witherspoon, Qi Yuan, Steven Reiken, Harvey Lin, Ross H. Munce, Benjamin Wajsberg, Zephan Melville, Oliver B. Clarke, Kaylee Wedderburn-Pugh, Anetta Wronska, Muslima S. Razaqyar, Irene C. Chrismer, Monique O. Shelton, Ami Mankodi, Christopher Grunseich, Mark A. Tarnopolsky, Kurenai Tanji, Michio Hirano, Sheila Riazi, Natalia Kraeva, Nicol C. Voermans, Angela Gruber, Carolyn Allen, Katherine G. Meilleur, Andrew R. Marks
Concomitant 1p/19q co-deletion and IDH1/2, ATRX, and TP53 mutations within a single clone of “dual-genotype” IDH-mutant infiltrating gliomas
Cinthya J. Zepeda-Mendoza, Rachael A. Vaubel, Shabnam Zarei, Cristiane M. Ida, Martin Matthews, Sara Acree, Aditya Raghunathan, Caterina Giannini, Robert B. Jenkins
Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation
David Castel, Thomas Kergrohen, Arnault Tauziède-Espariat, Alan Mackay, Samia Ghermaoui, Emmanuèle Lechapt, Stefan M. Pfister, Christof M. Kramm, Nathalie Boddaert, Thomas Blauwblomme, Stéphanie Puget, Kévin Beccaria, Chris Jones, David T. W. Jones, Pascale Varlet, Jacques Grill, Marie-Anne Debily
Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8
Leanne de Kock, Barbara Rivera, William D. Foulkes
Complement deposition at the neuromuscular junction in seronegative myasthenia gravis
Sarah Hoffmann, Lutz Harms, Markus Schuelke, Jens-Carsten Rückert, Hans-Hilmar Goebel, Werner Stenzel, Andreas Meisel