Haridy, Nourelhoda A.

Top Publications

Top Publications Authored or Co-Authored by "Haridy, Nourelhoda A."

• Genetic and phenotypic characterization of complex hereditary spastic paraplegia

  Brain, Volume 139, No. 7, Year 2016, Citations 167
• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Nature Communications, Volume 10, No. 1, Article 3094, Year 2019, Citations 120
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• 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
• PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

  Annals of Neurology, Volume 86, No. 2, Year 2019, Citations 61