Ausgabe 3/2014
Inhalt (13 Artikel)
The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues
Ione O. C. Woollacott, Simon Mead
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
Johnathan Cooper-Knock, Pamela J. Shaw, Janine Kirby
The neuropathology associated with repeat expansions in the C9ORF72 gene
Ian R. A. Mackenzie, Petra Frick, Manuela Neumann
Mechanisms of toxicity in C9FTLD/ALS
Tania F. Gendron, Veronique V. Belzil, Yong-Jie Zhang, Leonard Petrucelli
Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia
Alan Stepto, Jean-Marc Gallo, Christopher E. Shaw, Frank Hirth
Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion
Hannah A. Pliner, David M. Mann, Bryan J. Traynor
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
Marka van Blitterswijk, Bianca Mullen, Alexandra M. Nicholson, Kevin F. Bieniek, Michael G. Heckman, Matthew C. Baker, Mariely DeJesus-Hernandez, NiCole A. Finch, Patricia H. Brown, Melissa E. Murray, Ging-Yuek R. Hsiung, Heather Stewart, Anna M. Karydas, Elizabeth Finger, Andrew Kertesz, Eileen H. Bigio, Sandra Weintraub, Marsel Mesulam, Kimmo J. Hatanpaa, Charles L. White III, Michael J. Strong, Thomas G. Beach, Zbigniew K. Wszolek, Carol Lippa, Richard Caselli, Leonard Petrucelli, Keith A. Josephs, Joseph E. Parisi, David S. Knopman, Ronald C. Petersen, Ian R. Mackenzie, William W. Seeley, Lea T. Grinberg, Bruce L. Miller, Kevin B. Boylan, Neill R. Graff-Radford, Bradley F. Boeve, Dennis W. Dickson, Rosa Rademakers
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
Michael D. Gallagher, Eunran Suh, Murray Grossman, Lauren Elman, Leo McCluskey, John C. Van Swieten, Safa Al-Sarraj, Manuela Neumann, Ellen Gelpi, Bernardino Ghetti, Jonathan D. Rohrer, Glenda Halliday, Christine Van Broeckhoven, Danielle Seilhean, Pamela J. Shaw, Matthew P. Frosch, Irina Alafuzoff, Anna Antonell, Nenad Bogdanovic, William Brooks, Nigel J. Cairns, Johnathan Cooper-Knock, Carl Cotman, Patrick Cras, Marc Cruts, Peter P. De Deyn, Charles DeCarli, Carol Dobson-Stone, Sebastiaan Engelborghs, Nick Fox, Douglas Galasko, Marla Gearing, Ilse Gijselinck, Jordan Grafman, Päivi Hartikainen, Kimmo J. Hatanpaa, J. Robin Highley, John Hodges, Christine Hulette, Paul G. Ince, Lee-Way Jin, Janine Kirby, Julia Kofler, Jillian Kril, John B. J. Kwok, Allan Levey, Andrew Lieberman, Albert Llado, Jean-Jacques Martin, Eliezer Masliah, Christopher J. McDermott, Ann McKee, Catriona McLean, Simon Mead, Carol A. Miller, Josh Miller, David G. Munoz, Jill Murrell, Henry Paulson, Olivier Piguet, Martin Rossor, Raquel Sanchez-Valle, Mary Sano, Julie Schneider, Lisa C. Silbert, Salvatore Spina, Julie van der Zee, Tim Van Langenhove, Jason Warren, Stephen B. Wharton, Charles L. White III, Randall L. Woltjer, John Q. Trojanowski, Virginia M. Y. Lee, Vivianna Van Deerlin, Alice S. Chen-Plotkin
Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD)
Johannes Brettschneider, Kelly Del Tredici, David J. Irwin, Murray Grossman, John L. Robinson, Jon B. Toledo, Lubin Fang, Vivianna M. Van Deerlin, Albert C. Ludolph, Virginia M.-Y. Lee, Heiko Braak, John Q. Trojanowski
Staging TDP-43 pathology in Alzheimer’s disease
Keith A. Josephs, Melissa E. Murray, Jennifer L. Whitwell, Joseph E. Parisi, Leonard Petrucelli, Clifford R. Jack, Ronald C. Petersen, Dennis W. Dickson
Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability
Malcolm Proudfoot, Nick J. Gutowski, Dieter Edbauer, David A. Hilton, Mark Stephens, Julia Rankin, Ian R. A. Mackenzie