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Research output

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

   Research output: Contribution to journal › Article › Academic › peer-review

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

   Research output: Contribution to journal › Article › Academic › peer-review

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

   Research output: Contribution to journal › Article › Academic › peer-review

4. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

   Research output: Contribution to journal › Article › Academic › peer-review

5. M. leprae components induce nerve damage by complement activation: identification of lipoarabinomannan as the dominant complement activator

   Research output: Contribution to journal › Article › Academic › peer-review

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