Ausgabe 4/2008
Inhalt (11 Artikel)
Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorders
Stormy J. Chamberlain, Xue-Jun Li, Marc Lalande
Behavioral effects of a deletion in Kcnn2, the gene encoding the SK2 subunit of small-conductance Ca2+-activated K+ channels
Marek Szatanik, Nicolas Vibert, Isabelle Vassias, Jean-Louis Guénet, Daniel Eugène, Catherine de Waele, Jean Jaubert
Nitric oxide synthase genes and their interactions with environmental factors in Parkinson’s disease
Dana B. Hancock, Eden R. Martin, Jeffery M. Vance, William K. Scott
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease
Jung Mi Choi, Myoung Soo Woo, Hyeo-Il Ma, Suk Yun Kang, Young-Hee Sung, Seok Woo Yong, Sun Ju Chung, Joong-Seok Kim, Hae-won Shin, Chul Hyoung Lyoo, Phil Hyu Lee, Jong Sam Baik, Sang-Jin Kim, Mee Young Park, Young Ho Sohn, Jin-Ho Kim, Jae Woo Kim, Myung Sik Lee, Myoung Chong Lee, Dong-Hyun Kim, Yun Joong Kim
The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population
Chin-Song Lu, Yah-Huei Wu-Chou, Marina van Doeselaar, Erik J. Simons, Hsiu-Chen Chang, Guido J. Breedveld, Alessio Di Fonzo, Rou-Shayn Chen, Yi-Hsin Weng, Szu-Chia Lai, Ben A. Oostra, Vincenzo Bonifati
The location of DCX mutations predicts malformation severity in X-linked lissencephaly
Pierre-Louis Leger, Isabelle Souville, Nathalie Boddaert, Caroline Elie, Jean Marc Pinard, Perrine Plouin, Marie Laure Moutard, Vincent des Portes, Hilde Van Esch, Sylvie Joriot, Jean Louis Renard, Jamel Chelly, Fiona Francis, Cherif Beldjord, Nadia Bahi-Buisson
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12
E. Chouery, J. Kfoury, V. Delague, N. Jalkh, P. Bejjani, J. L. Serre, A. Mégarbané
Identification and characterisation of a large Senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2)
Larissa Arning, Ludger Schöls, Huriye Cin, Manfred Souquet, Jörg T. Epplen, Dagmar Timmann
Global distribution of Fatal familial insomnia: founder or recurrent mutations
H.-S. Lee, L. G. Goldfarb
Founder effect and recurrent mutational events in fatal familial insomnia
José A. Peña, Miguel A. Alfonso-Sánchez, Ana B. Rodríguez-Martínez, Marian M. de Pancorbo