Ataxia is a movement disorder that manifests during the execution of purposeful movements.
It results from damage to the structures of the cerebellum and its connections or the posterior …

Mutations in the lipoyltransferase 1 (LIPT1) gene are rare inborn errors of metabolism
leading to a fatal condition characterized by lipoylation defects of the 2-ketoacid …

Ataxia is one of the most common pediatric movement disorders and can be caused by a
large number of congenital and acquired diseases affecting the cerebellum or the vestibular …

Hom ozygous variants in the peptidyl-tRNA hydrolase 2 gene (PTRH2) cause infantile-onset
multisystem neurologic, endocrine, and pancreatic disease. The objective is to delineate the …

Ataxia in children is a common clinical sign of numerous neurological disorders consisting of
impaired coordination of voluntary muscle movement. Its most common form, cerebellar …

AUSense team has developed an innovative biosensor with a great potential to measure the
free valproic acid in blood plasma. We focused on providing a quick, easy-to-use and …

Dědičné cerebelární ataxie jsou vzácnou příčinou poruch rovnováhy v dospělosti. V tomto
článku shrnujeme základní informace o této heterogenní skupině chorob s důrazem na …