Heales, Simon J.R.

Top Publications

Top Publications Authored or Co-Authored by "Heales, Simon J.R."

• PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

  Annals of Neurology, Volume 86, No. 2, Year 2019, Citations 61
• Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

  Nature Communications, Volume 9, No. 1, Article 3505, Year 2018, Citations 37
• Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism

  Science Translational Medicine, Volume 13, No. 594, Article eaaw1564, Year 2021, Citations 31
• Fetal gene therapy for neurodegenerative disease of infants

  Nature Medicine, Volume 24, No. 9, Year 2018, Citations 22
• Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes

  Journal of Inherited Metabolic Disease, Volume 36, No. 5, Year 2013, Citations 22