Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Tomas, Gescheidt"'
Autor:
Kristyna, Doleckova, Jan, Roth, Julia, Stellmachova, Tomas, Gescheidt, Vladimir, Sigut, Pavel, Houska, Robert, Jech, Michael, Zech, Martin, Vyhnalek, Emilie, Vyhnalkova, Pavel, Seeman, Anna Uhrova, Meszarosova
Publikováno v:
Neurological Research. 44:379-389
SPG11 is one of the most frequent autosomal recessively inherited types of hereditary spastic paraplegias (HSP or SPG). We describe the first seven patients from the Czech Republic with biallelic pathogenic variants in the SPG11. The typical HSP neur