Felhi, Rahma

Top Publications

Top Publications Authored or Co-Authored by "Felhi, Rahma"

• Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

  Molecular Biology Reports, Volume 47, No. 5, Year 2020, Citations 16
• A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations

  International Journal of Developmental Neuroscience, Volume 82, No. 7, Year 2022, Citations 15
• Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

  Clinica Chimica Acta, Volume 488, Year 2019, Citations 14
• Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family

  Biochemical and Biophysical Research Communications, Volume 495, No. 2, Year 2018, Citations 13
• Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene

  Biochemical and Biophysical Research Communications, Volume 474, No. 4, Year 2016, Citations 11