Ausgabe 2/2007
Inhalt (11 Artikel)
Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein
Melanie Kuhn, Karina Haebig, Michael Bonin, Natalia Ninkina, Vladimir L. Buchman, Sven Poths, Olaf Riess
The medial and lateral substantia nigra in Parkinson’s disease: mRNA profiles associated with higher brain tissue vulnerability
D. C. Duke, L. B. Moran, R. K. B. Pearce, M. B. Graeber
Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson’s disease
Julie P. Taylor, Mary M. Hulihan, Jennifer M. Kachergus, Heather L. Melrose, Sarah J. Lincoln, Kelly M. Hinkle, Jeremy T. Stone, Owen A. Ross, Robert Hauser, Jan Aasly, Thomas Gasser, Haydeh Payami, Zbigniew K. Wszolek, Matthew J. Farrer
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis
Anne Grünewald, Guido J. Breedveld, Katja Lohmann-Hedrich, Christan F. Rohé, Inke R. König, Johann Hagenah, Nicola Vanacore, Giuseppe Meco, Angelo Antonini, Stefano Goldwurm, Suzanne Lesage, Alexandra Dürr, Ferdinand Binkofski, Hartwig Siebner, Alexander Münchau, Alexis Brice, Ben A. Oostra, Christine Klein, Vincenzo Bonifati
A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer’s disease
Dimitrios Avramopoulos, Ruihua Wang, David Valle, M. Daniele Fallin, Susan S. Bassett
Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies
Jessica J. Hawes, Robert G. Tuskan, Karlyne M. Reilly
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia
Haijun Chen, Christian von Hehn, Leonard K. Kaczmarek, Laura R. Ment, Barbara R. Pober, Fuki M. Hisama
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy
Sabine Rudnik-Schöneborn, Elke Botzenhart, Thomas Eggermann, Jan Senderek, Benedikt G. H. Schoser, Rolf Schröder, Manfred Wehnert, Brunhilde Wirth, Klaus Zerres
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin–Lowry syndrome
Shelli R. Kesler, Richard J. Simensen, Kytja Voeller, Fatima Abidi, Roger E. Stevenson, Charles E. Schwartz, Allan L. Reiss
Large germline deletions and duplication in isolated cerebral cavernous malformation patients
U. Felbor, S. Gaetzner, D. J. Verlaan, R. Vijzelaar, G. A. Rouleau, A. M. Siegel
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe
Stephan Klebe, Arnaud Lacour, Alexandra Durr, Tanya Stojkovic, Christel Depienne, Sylvie Forlani, Sandrine Poea-Guyon, Isabelle Vuillaume, Bernard Sablonniere, Patrick Vermersch, Alexis Brice, Giovanni Stevanin