Ausgabe 2/2002
Inhalt (8 Artikel)
Identification of genetic loci affecting mouse-adapted bovine spongiform encephalopathy incubation time in mice
Sarah E. Lloyd, James B. Uphill, Paul V. Targonski, Elizabeth M. Fisher, John Collinge
Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation
Simone Kraner, Jörn P. Sieb, Peter N. Thompson, Ortrud K. Steinlein
Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the TOR1A (DYT1) gene
Takeshi Ikeuchi, Yoshiko Nomura, Masaya Segawa, Laurie J. Ozelius, Takayoshi Shimohata, Shoji Tsuji
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease
A. Bertoli Avella, B. Marcheco Teruel, J. Llibre Rodriguez, N. Gomez Viera, I. Borrajero Martinez, E. Severijnen, M. Joosse, C. van Duijn, L. Heredero Baute, P. Heutink
De novo MECP2 mutation in a 46,XX male patient with Rett syndrome
Robert Maiwald, Anselm Bönte, Helena Jung, Pavel Bitter, Zoe Storm, Franco Laccone, Peter Herkenrath
Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432
Marcy C. Speer, Felicia Lennon Graham, Erin Bonner, Keva Collier, Jeffrey M. Stajich, Perry C. Gaskell, Margaret A. Pericak-Vance, Jeffery M. Vance
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family
Domna-Maria Georgiou, Janez Zidar, Marko Korošec, Lefkos T. Middleton, Theodoros Kyriakides, Kyproula Christodoulou
Frontotemporal lobar degeneration – tau as a pied piper?
Markus Tolnay, Alphonse Probst