Rosa Campopiano Rosangela Ferese Fabio Buttari Cinzia Femiano Diego Centonze Francesco Fornai Francesca Biagioni Maria Antonietta Chiaravalloti Mauro Magnani Emiliano Giardina Anna Ruzzo Stefano Gambardella
10.3389/fneur.2019.01331
Front Neurol
2020 Jan 15;10:1331.
pnkp gene ataxia with oculomotor apraxia clinical exome late onset neurogenetics
CC BY
https://pubmed.ncbi.nlm.nih.gov/32010037/
Case Reports
PMC6974581
32010037
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4
2020