Giunti, Paola

Top Publications

Top Publications Authored or Co-Authored by "Giunti, Paola"

• Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

  Nature Genetics, Volume 17, No. 1, Year 1997, Citations 753
• De novo expansion of intermediate alleles in spinocerebellar ataxia 7

  Human Molecular Genetics, Volume 7, No. 11, Year 1998, Citations 105
• Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 100
• PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

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