@article{3104371,
    title = "A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia",
    author = "Breza, M. and Bourinaris, T. and Efthymiou, S. and Maroofian, R. and Athanasiou-Fragkouli, A. and Tzartos, J. and Velonakis, G. and Karavasilis, E. and Angelopoulou, G. and Kasselimis, D. and Potagas, C. and Stefanis, L. and Karadima, G. and Koutsis, G. and Houlden, H.",
    journal = "Brain Sciences",
    year = "2020",
    volume = "143",
    number = "6",
    pages = "e49",
    publisher = "Oxford University Press",
    issn = "-",
    doi = "10.1093/brain/awaa120",
    keywords = "DNA;  ganglioside induced differentiation associated protein 2;  protein;  unclassified drug, adult;  autosomal recessive disorder;  case report;  causality;  cerebellar ataxia;  clinical article;  disease course;  dysarthria;  ethnic group;  frameshift mutation;  Greek (people);  homozygosity;  human;  Letter;  loss of function mutation;  male;  middle aged;  neurologic gait disorder;  nuclear magnetic resonance imaging;  onset age;  pathogenicity;  pedigree analysis;  priority journal;  susceptibility weighted imaging;  cerebellar ataxia;  genetics;  homozygote;  mutation;  patient, Adult;  Cerebellar Ataxia;  Homozygote;  Humans;  Mutation;  Patients"
}