Zobrazeno 1 - 1
of 1
pro vyhledávání: '"NOP56 protein, human"'
Autor:
Yuishin Izumi, Nozomu Sato, Ludger Schöls, Yasushi Kita, Alain Vighetto, Alexis Brice, Masato Obayashi, Thomas Illig, Virginie Desestret, Thomas Klopstock, Giovanni Stevanin, Alexandra Durr, Kinya Ishikawa, Matthis Synofzik, Marie-Lorraine Monin, Johanna Huttenlocher, Charles Duyckaerts, Nathalie Streichenberger, Hidehiro Mizusawa, Christelle Tesson, H-Erich Wichmann
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry 86(9), 986-995 (2014). doi:10.1136/jnnp-2014-309153
Objective Spinocerebellar ataxia 36 (SCA36) is an autosomal-dominant neurodegenerative disorder caused by a large (>650) hexanucleotide GGCCTG repeat expansion in the first intron of the NOP56 gene. The aim of this study is to clarify the prevalence,