Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

Por Protasova, Maria S, Grigorenko, Anastasia P, Tyazhelova, Tatiana V, Andreeva, Tatiana V, Reshetov, Denis A, Gusev, Fedor E, Laptenko, Alexander E, Kuznetsova, Irina L, Goltsov, Andrey Y, Klyushnikov, Sergey A, Illarioshkin, Sergey N, Rogaev, Evgeny I
Publicado no Eur J Hum Genet (2016)

Manifestation of Huntington’s disease pathology in human induced pluripotent stem cell-derived neurons

Por Nekrasov, Evgeny D., Vigont, Vladimir A., Klyushnikov, Sergey A., Lebedeva, Olga S., Vassina, Ekaterina M., Bogomazova, Alexandra N., Chestkov, Ilya V., Semashko, Tatiana A., Kiseleva, Elena, Suldina, Lyubov A., Bobrovsky, Pavel A., Zimina, Olga A., Ryazantseva, Maria A., Skopin, Anton Yu., Illarioshkin, Sergey N., Kaznacheyeva, Elena V., Lagarkova, Maria A., Kiselev, Sergey L.
Publicado no Mol Neurodegener (2016)