Tincheva, Radka Stefanova

Top Publications

Top Publications Authored or Co-Authored by "Tincheva, Radka Stefanova"

• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Nature Communications, Volume 10, No. 1, Article 3094, Year 2019, Citations 120
• Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

  Brain, Volume 142, No. 10, Year 2019, Citations 94
• Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

  American Journal of Human Genetics, Volume 104, No. 4, Year 2019, Citations 84
• 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