Isohanni, Pirjo

Top Publications

Top Publications Authored or Co-Authored by "Isohanni, Pirjo"

• 3-Methylglutaconic aciduria - Lessons from 50 genes and 977 patients

  Journal of Inherited Metabolic Disease, Volume 36, No. 6, Year 2013, Citations 77
• Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

  Neuromuscular Disorders, Volume 31, No. 6, Year 2021, Citations 75
• Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

  Annals of Neurology, Volume 82, No. 6, Year 2017, Citations 58
• 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
• Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

  Annals of Neurology, Volume 82, No. 3, Year 2017, Citations 47