Volume 6; Issue 3

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neurogenetics
Volume 6; Issue 3

neurogenetics

Volume 6; Issue 3

1

X-linked creatine transporter deficiency

Maria C. Schiaffino, Carlo Bellini, Laura Costabello, Ubaldo Caruso, Cornelis Jakobs, Gajja S. Salomons, Eugenio Bonioli

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 228 KB

english, 2005

2

The Gem interacting protein (GMIP) gene is associated with major depressive disorder

Kazuyuki Tadokoro, Ryota Hashimoto, Masahiko Tatsumi, Asako Kosuga, Kunitoshi Kamijima, Hiroshi Kunugi

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 117 KB

english, 2005

3

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 43 KB

english, 2005

4

Two missense mutations ofEGR2R359W andGJB1V136A 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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 231 KB

english, 2005

5

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

Sara E. Mole, Ruth E. Williams, Hans H. Goebel

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 370 KB

english, 2005

6

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 306 KB

english, 2005

7

Identification of aVPS13Afounder 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. M

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 229 KB

english, 2005

8

Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures

C. L. Bennett, H. M. Huynh, P. F. Chance, I. A. Glass, S. M. Gospe

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 206 KB

english, 2005