Tuji, Shoji

Top Publications

Top Publications Authored or Co-Authored by "Tuji, Shoji"

• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

  Nature Communications, Volume 10, No. 1, Article 4920, Year 2019, Citations 98
• Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: Implications for the molecular mechanisms of the instability of the CAG repeat

  Human Molecular Genetics, Volume 5, No. 7, Year 1996, Citations 96
• Huntington's disease-like 2 (HDL2) in North America and Japan

  Annals of Neurology, Volume 56, No. 5, Year 2004, Citations 96
• Hereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12

  Human Mutation, Volume 34, No. 10, Year 2013, Citations 71