Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Galina Rudenskaia"'
Autor:
Rita Eva Varga, Christian Beetz, Hicham Fadel, Michael A. Gonzalez, Josep Gamez, Fiorella Speziani, Rebecca Schüle, Irene Valenzuela, Peter Nürnberg, Galina Rudenskaia, Stephan Züchner, Janine Altmüller, Victoria Alvarez, Gudrun Nürnberg, James Y. Garbern, Holger Thiele
Publikováno v:
Human mutation. 34(6)
The hereditary spastic paraplegias (HSPs), a group of neurodegenerative movement disorders, are among the genetically most heterogeneous clinical conditions. Still, the more than 50 forms known so far apparently explain less than 80% of cases. The pr
Autor:
Yasutoshi Koga, Ekaterina Zakharova, Matsuishi Toyojiro, Nataliya Povalko, Galina Rudenskaia, Yukihiro Akita, Koji Hirata
Publikováno v:
Mitochondrion. 5(3)
We have analyzed mitochondrial DNA sequence in 15 Russian LHON patients and found the new mtDNA sequence variant in one family (2 patients) who showed 100% penetrance of the disease in men. This family has a T14484C primary mutation, and four seconda