Research interests

  • Genetics
  • DNA diagnostics
  • Neurological disorders

specialisation

Human Genetics

Research output

  1. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy

    Research output: Contribution to journalArticleAcademicpeer-review

  3. A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

    Research output: Contribution to journalArticleAcademicpeer-review

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