Horvàth, Rita

Top Publications

Top Publications Authored or Co-Authored by "Horvàth, Rita"

• Clinical expression of leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

  American Journal of Human Genetics, Volume 81, No. 2, Year 2007, Citations 353
• Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

  Brain, Volume 137, No. 1, Year 2014, Citations 149
• Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal γ subunit

  American Journal of Human Genetics, Volume 79, No. 2, Year 2006, Citations 149
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• 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