Haack, Tobias Bernd

Top Publications

Top Publications Authored or Co-Authored by "Haack, Tobias Bernd"

• Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

  American Journal of Human Genetics, Volume 93, No. 3, Year 2013, Citations 141
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

  Molecular Psychiatry, Volume 28, No. 2, Year 2023, Citations 99
• 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
• SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: A large multi-centre study

  Brain, Volume 139, No. 5, Year 2016, Citations 84