Kurian, Manju A.

Top Publications

Top Publications Authored or Co-Authored by "Kurian, Manju A."

• Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

  Neurology, Volume 90, No. 1, Year 2018, Citations 72
• Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

  Molecular Genetics and Metabolism, Volume 139, No. 3, Article 107624, Year 2023, Citations 50
• 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
• Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

  Brain, Volume 146, No. 12, Year 2023