Ausgabe 6/2019
Inhalt (14 Artikel)
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study
Sara Baldassari, Théo Ribierre, Elise Marsan, Homa Adle-Biassette, Sarah Ferrand-Sorbets, Christine Bulteau, Nathalie Dorison, Martine Fohlen, Marc Polivka, Sarah Weckhuysen, Georg Dorfmüller, Mathilde Chipaux, Stéphanie Baulac
Precise detection of low-level somatic mutation in resected epilepsy brain tissue
Nam Suk Sim, Ara Ko, Woo Kyeong Kim, Se Hoon Kim, Ju Seong Kim, Kyu-Won Shim, Eleonora Aronica, Caroline Mijnsbergen, Wim G. M. Spliet, Hyun Yong Koh, Heung Dong Kim, Joon Soo Lee, Dong Seok Kim, Hoon-Chul Kang, Jeong Ho Lee
Aβ-induced acceleration of Alzheimer-related τ-pathology spreading and its association with prion protein
Luis Aragão Gomes, Silvia Andrea Hipp, Ajeet Rijal Upadhaya, Karthikeyan Balakrishnan, Simona Ospitalieri, Marta J. Koper, Pablo Largo-Barrientos, Valerie Uytterhoeven, Julia Reichwald, Sabine Rabe, Rik Vandenberghe, Christine A. F. von Arnim, Thomas Tousseyn, Regina Feederle, Camilla Giudici, Michael Willem, Matthias Staufenbiel, Dietmar Rudolf Thal
Granulovacuolar degeneration bodies are neuron-selective lysosomal structures induced by intracellular tau pathology
Vera I. Wiersma, Anna Maria van Ziel, Sonia Vazquez-Sanchez, Anna Nölle, Ernesto Berenjeno-Correa, Anna Bonaterra-Pastra, Florence Clavaguera, Markus Tolnay, René J. P. Musters, Jan R. T. van Weering, Matthijs Verhage, Jeroen J. M. Hoozemans, Wiep Scheper
Early defects in translation elongation factor 1α levels at excitatory synapses in α-synucleinopathy
Sonja Blumenstock, Maria Florencia Angelo, Finn Peters, Mario M. Dorostkar, Viktoria C. Ruf, Manja Luckner, Sophie Crux, Lenka Slapakova, Thomas Arzberger, Stéphane Claverol, Etienne Herzog, Jochen Herms
Detrimental and protective action of microglial extracellular vesicles on myelin lesions: astrocyte involvement in remyelination failure
Marta Lombardi, Roberta Parolisi, Federica Scaroni, Elisabetta Bonfanti, Alice Gualerzi, Martina Gabrielli, Nicole Kerlero de Rosbo, Antonio Uccelli, Paola Giussani, Paola Viani, Cecilia Garlanda, Maria P. Abbracchio, Linda Chaabane, Annalisa Buffo, Marta Fumagalli, Claudia Verderio
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
S. Donkervoort, R. Sabouny, P. Yun, L. Gauquelin, K. R. Chao, Y. Hu, I. Al Khatib, A. Töpf, P. Mohassel, B. B. Cummings, R. Kaur, D. Saade, S. A. Moore, L. B. Waddell, M. A. Farrar, J. K. Goodrich, P. Uapinyoying, S.H. S. Chan, A. Javed, M. E. Leach, P. Karachunski, J. Dalton, L. Medne, A. Harper, C. Thompson, I. Thiffault, S. Specht, R. E. Lamont, C. Saunders, H. Racher, F. P. Bernier, D. Mowat, N. Witting, J. Vissing, R. Hanson, K. A. Coffman, M. Hainlen, J. S. Parboosingh, A. Carnevale, G. Yoon, R. E. Schnur, K. M. Boycott, J. K. Mah, V. Straub, A. Reghan Foley, A. M. Innes, C. G. Bönnemann, T. E. Shutt
The dystroglycan receptor maintains glioma stem cells in the vascular niche
Bryan W. Day, Justin D. Lathia, Zara C. Bruce, Rochelle C. J. D’Souza, Ulrich Baumgartner, Kathleen S. Ensbey, Yi Chieh Lim, Brett W. Stringer, Seçkin Akgül, Carolin Offenhäuser, Yuchen Li, Paul R. Jamieson, Fiona M. Smith, Courtney L. R. Jurd, Thomas Robertson, Po-Ling Inglis, Zarnie Lwin, Rosalind L. Jeffree, Terrance G. Johns, Krishna P. L. Bhat, Jeremy N. Rich, Kevin P. Campbell, Andrew W. Boyd
Epigenetic loss of RNA-methyltransferase NSUN5 in glioma targets ribosomes to drive a stress adaptive translational program
Maxime Janin, Vanessa Ortiz-Barahona, Manuel Castro de Moura, Anna Martínez-Cardús, Pere Llinàs-Arias, Marta Soler, Daphna Nachmani, Joffrey Pelletier, Ulrike Schumann, Maria E. Calleja-Cervantes, Sebastian Moran, Sonia Guil, Alberto Bueno-Costa, David Piñeyro, Montserrat Perez-Salvia, Margalida Rosselló-Tortella, Laia Piqué, Joan J. Bech-Serra, Carolina De La Torre, August Vidal, María Martínez-Iniesta, Juan F. Martín-Tejera, Alberto Villanueva, Alexandra Arias, Isabel Cuartas, Ana M. Aransay, Andres Morales La Madrid, Angel M. Carcaboso, Vicente Santa-Maria, Jaume Mora, Agustin F. Fernandez, Mario F. Fraga, Iban Aldecoa, Leire Pedrosa, Francesc Graus, Noemi Vidal, Fina Martínez-Soler, Avelina Tortosa, Cristina Carrato, Carme Balañá, Matthew W. Boudreau, Paul J. Hergenrother, Peter Kötter, Karl-Dieter Entian, Jürgen Hench, Stephan Frank, Sheila Mansouri, Gelareh Zadeh, Pablo D. Dans, Modesto Orozco, George Thomas, Sandra Blanco, Joan Seoane, Thomas Preiss, Pier Paolo Pandolfi, Manel Esteller
MYCN amplification drives an aggressive form of spinal ependymoma
David R. Ghasemi, Martin Sill, Konstantin Okonechnikov, Andrey Korshunov, Stephen Yip, Peter W. Schutz, David Scheie, Anders Kruse, Patrick N. Harter, Marina Kastelan, Marlies Wagner, Christian Hartmann, Julia Benzel, Kendra K. Maass, Mustafa Khasraw, Ronald Sträter, Christian Thomas, Werner Paulus, Christian P. Kratz, Hendrik Witt, Daisuke Kawauchi, Christel Herold-Mende, Felix Sahm, Sebastian Brandner, Marcel Kool, David T. W. Jones, Andreas von Deimling, Stefan M. Pfister, David E. Reuss, Kristian W. Pajtler
A single-center study of the clinicopathologic correlates of gliomas with a MYB or MYBL1 alteration
Jason Chiang, Julie H. Harreld, Christopher L. Tinkle, Daniel C. Moreira, Xiaoyu Li, Sahaja Acharya, Ibrahim Qaddoumi, David W. Ellison
C9orf72-specific phenomena associated with frontotemporal dementia and gastrointestinal symptoms in the absence of TDP-43 aggregation
Paul J. Sampognaro, Sarat C. Vatsavayai, Celica G. Cosme, Ji-Hye L. Hwang, Amber Nolan, Eric J. Huang, William W. Seeley, Mary G. De May
Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells
Sandra Almeida, Gopinath Krishnan, Mia Rushe, Yuanzheng Gu, Mark W. Kankel, Fen-Biao Gao
Neuroglial stem cell-derived inflammatory pseudotumor (n-SCIPT): clinicopathologic characterization of a novel lesion of the lumbosacral spinal cord and nerve roots following intrathecal allogeneic stem cell intervention
Emily A. Sloan, Paul J. Sampognaro, Jacqueline C. Junn, Cynthia Chin, Line Jacques, Prashanth S. Ramachandran, Joseph L. DeRisi, Michael R. Wilson, Arnold R. Kriegstein, Andrew W. Bollen, David A. Solomon, Marta Margeta, John W. Engstrom