Friedreich Ataxia: current status and future prospects

Por Bürk, Katrin
Publicado no Cerebellum Ataxias (2017)

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

Por Bernard, Veronica, Minnerop, Martina, Bürk, Katrin, Kreuz, Friedmar, Gillessen-Kaesbach, Gabriele, Zühlke, Christine
Publicado em 2009

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

Por Zühlke, Christine, Mikat, Barbara, Timmann, Dagmar, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Bürk, Katrin
Publicado no Cerebellum Ataxias (2015)

KCNC3: Phenotype, mutations, channel biophysics – a study of 260 familial ataxia patients

Por Figueroa, Karla P., Minassian, Natali A., Stevanin, Giovanni, Waters, Michael, Garibyan, Vartan, Forlani, Sylvie, Strzelczyk, Adam, Bűrk, Katrin, Brice, Alexis, Dűrr, Alexandra, Papazian, Diane M., Pulst, Stefan-M
Publicado em 2010