TY - JOUR
TI - A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
AU - Breza, M.
AU - Bourinaris, T.
AU - Efthymiou, S.
AU - Maroofian, R.
AU - Athanasiou-Fragkouli, A.
AU - Tzartos, J.
AU - Velonakis, G.
AU - Karavasilis, E.
AU - Angelopoulou, G.
AU - Kasselimis, D.
AU - Potagas, C.
AU - Stefanis, L.
AU - Karadima, G.
AU - Koutsis, G.
AU - Houlden, H.
JO - Brain Sciences
PY - 2020
VL - 143
TODO - 6
SP - e49
PB - Oxford University Press
SN - -
TODO - 10.1093/brain/awaa120
TODO - 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
TODO - null
ER -