Ausgabe 2/2013
Inhalt (11 Artikel)
Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders
Nasim Vasli, Jocelyn Laporte
Presenilin-1 adopts pathogenic conformation in normal aging and in sporadic Alzheimer’s disease
Lara Wahlster, Muriel Arimon, Navine Nasser-Ghodsi, Kathryn Leigh Post, Alberto Serrano-Pozo, Kengo Uemura, Oksana Berezovska
Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease
Marta Pera, Daniel Alcolea, Raquel Sánchez-Valle, Cristina Guardia-Laguarta, Martí Colom-Cadena, Nahuai Badiola, Marc Suárez-Calvet, Albert Lladó, Alvaro A. Barrera-Ocampo, Diego Sepulveda-Falla, Rafael Blesa, José L. Molinuevo, Jordi Clarimón, Isidre Ferrer, Ellen Gelpi, Alberto Lleó
Neurochemical mapping of the human hippocampus reveals perisynaptic matrix around functional synapses in Alzheimer’s disease
Dávid Lendvai, Markus Morawski, László Négyessy, Georgina Gáti, Carsten Jäger, Gábor Baksa, Tibor Glasz, Johannes Attems, Heikki Tanila, Thomas Arendt, Tibor Harkany, Alán Alpár
Reduced expression of PGC-1α partly underlies mitochondrial changes and correlates with neuronal loss in multiple sclerosis cortex
Maarten E. Witte, Philip G. Nijland, Joost A. R. Drexhage, Wouter Gerritsen, Dirk Geerts, Bert van het Hof, Arie Reijerkerk, Helga E. de Vries, Paul van der Valk, Jack van Horssen
Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion
Stefan Vielhaber, Grazyna Debska-Vielhaber, Viktoriya Peeva, Susanne Schoeler, Alexei P. Kudin, Irina Minin, Stefanie Schreiber, Reinhard Dengler, Katja Kollewe, Werner Zuschratter, Cornelia Kornblum, Gábor Zsurka, Wolfram S. Kunz
Charcot–Marie–Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin
Laura Cogli, Cinzia Progida, Claire L. Thomas, Bradley Spencer-Dene, Claudia Donno, Giampietro Schiavo, Cecilia Bucci
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion
Jacqueline C. Mitchell, Philip McGoldrick, Caroline Vance, Tibor Hortobagyi, Jemeen Sreedharan, Boris Rogelj, Elizabeth L. Tudor, Bradley N. Smith, Christian Klasen, Christopher C. J. Miller, Jonathan D. Cooper, Linda Greensmith, Christopher E. Shaw
Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion
Kevin F. Bieniek, Melissa E. Murray, Nicola J. Rutherford, Monica Castanedes-Casey, Mariely DeJesus-Hernandez, Amanda M. Liesinger, Matthew C. Baker, Kevin B. Boylan, Rosa Rademakers, Dennis W. Dickson
Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant
Andrew King, Safa Al-Sarraj, Claire Troakes, Bradley N. Smith, Satomi Maekawa, Mariangela Iovino, Maria Grazia Spillantini, Christopher E. Shaw