Athanasiou-Fragkouli, Alkyoni

Top Publications

Top Publications Authored or Co-Authored by "Athanasiou-Fragkouli, Alkyoni"

• Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

  Nature Genetics, Volume 52, No. 5, Year 2020, Citations 94
• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 92
• TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

  Nature Communications, Volume 14, No. 1, Article 1009, Year 2023, Citations 41
• 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
• Negative screening for 12 rare LRRK2 pathogenic variants in a cohort of Nigerians with Parkinson's disease

  Neurobiology of Aging, Volume 99, Year 2021, Citations 7