Journal
- Muscle & nerve3
- Human mutation2
- Molecular and cellular probes2
- BMJ case reports1
- BioMed research international1
- Brain pathology1
- Clinical EEG and neuroscience1
- European journal of paediatric neurology1
- Journal of child neurology1
- Journal of clinical neuroscience1
- Journal of inherited metabolic disease1
- Journal of medical genetics1
- Journal of the peripheral nervous system1
- Molecular genetics & genomic medicine1
- Neurology1
- Practical neurology1