Publications Q4 2017

Jacobsen JC, Whitford W, Swan B, Taylor J, Love DR, Hill R, Molyneux S, George PM, Mackay R, Robertson SP, Snell RG, Lehnert K. Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair. JIMD Rep,  (2017) Thanks to the collaborative effort with some of our stellar New Zealand clinicians, the genetics team recently published results of a family, registered on our database, which have two girls with ataxia (loss of co-ordination of gait). After identifying the genetic cause in the two girls…continue reading →