Kinoshita, Taroh

Top Publications

Top Publications Authored or Co-Authored by "Kinoshita, Taroh"

• Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

  American Journal of Human Genetics, Volume 98, No. 4, Year 2016, Citations 76
• PIGG variant pathogenicity assessment reveals characteristic features within 19 families

  Genetics in Medicine, Volume 23, No. 10, Year 2021, Citations 51
• Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

  American Journal of Human Genetics, Volume 101, No. 5, Year 2017, Citations 51
• Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

  American Journal of Human Genetics, Volume 105, No. 2, Year 2019, Citations 45
• Kola acuminata proanthocyanidins: A class of anti-trypanosomal compounds effective against Trypanosoma brucei

  International Journal for Parasitology, Volume 35, No. 1, Year 2005, Citations 42