Sökning: "Martin paucar"

Hittade 1 avhandling innehållade orden Martin paucar.

1. 1. Genotype-phenotype characterization of familial hyperkinetic movement disorders : emphasis on ataxia and brain calcifications

   Författare :Martin Paucar; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Differential diagnosis of familial chorea encompasses Huntington’s disease along with a group of conditions referred to as Huntington’s disease-like (HDL). One such HDL is an inherited prion disorder (IPD) caused by pathological insertions of 8 additional OPRIS in the prion protein gene (PRNP). LÄS MER