Papanicolaou, Eleni Zamba

Top Publications

Top Publications Authored or Co-Authored by "Papanicolaou, Eleni Zamba"

• Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

  Brain, Volume 142, No. 10, Year 2019, Citations 94
• Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

  Brain, Volume 143, No. 8, Year 2020, Citations 79
• PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

  Annals of Neurology, Volume 86, No. 2, Year 2019, Citations 61
• Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

  American Journal of Human Genetics, Volume 106, No. 3, Year 2020, Citations 40
• A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

  Genetics in Medicine, Volume 24, No. 10, Year 2022, Citations 1