Ausgabe 3/2005
Inhalt (8 Artikel)
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
Sara E. Mole, Ruth E. Williams, Hans H. Goebel
The Gem interacting protein (GMIP) gene is associated with major depressive disorder
Kazuyuki Tadokoro, Ryota Hashimoto, Masahiko Tatsumi, Asako Kosuga, Kunitoshi Kamijima, Hiroshi Kunugi
Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia
Ingrid K. Svenson, Mark T. Kloos, Amy Jacon, Carol Gallione, April C. Horton, Margaret A. Pericak-Vance, Michael D. Ehlers, Douglas A. Marchuk
Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures
C. L. Bennett, H. M. Huynh, P. F. Chance, I. A. Glass, S. M. Gospe Jr
Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis
Carol Dobson-Stone, Antonio Velayos-Baeza, An Jansen, Frederick Andermann, François Dubeau, Francine Robert, Anne Summers, Anthony E. Lang, Sylvain Chouinard, Adrian Danek, Eva Andermann, Anthony P. Monaco
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot–Marie–Tooth disease family
K. W. Chung, I. N. Sunwoo, S. M. Kim, K. D. Park, W.-K. Kim, T. S. Kim, H. Koo, M. Cho, J. Lee, B. O. Choi
X-linked creatine transporter deficiency
Maria C. Schiaffino, Carlo Bellini, Laura Costabello, Ubaldo Caruso, Cornelis Jakobs, Gajja S. Salomons, Eugenio Bonioli
A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs
Maria Spadaro, Simona Ursu, Frank Lehmann-Horn, Liana Veneziano, Giovanni Antonini, Paola Giunti, Marina Frontali, Karin Jurkat-Rott