Distelmaier, Felix

Top Publications

Top Publications Authored or Co-Authored by "Distelmaier, Felix"

• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 92
• Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

  Human Mutation, Volume 36, No. 1, Year 2015, Citations 76
• Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

  Genetics in Medicine, Volume 25, No. 6, Article 100314, Year 2023, Citations 61
• CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome

  EMBO Molecular Medicine, Volume 9, No. 1, Year 2017, Citations 57
• Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

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