Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

por Wiethoff, Sarah, Bettencourt, Conceição, Paudel, Reema, Madon, Prochi, Liu, Yo-Tsen, Hersheson, Joshua, Wadia, Noshir, Desai, Joy, Houlden, Henry
Publicado 2016