Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variabilit...

av Antoniadi, Thalia, Buxton, Chris, Dennis, Gemma, Forrester, Natalie, Smith, Debbie, Lunt, Peter, Burton-Jones, Sarah
I publikationen BMC Med Genet (2015)

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

av Bansagi, Boglarka, Antoniadi, Thalia, Burton-Jones, Sarah, Murphy, Sinead M., McHugh, John, Alexander, Michael, Wells, Richard, Davies, Joanna, Hilton-Jones, David, Lochmüller, Hanns, Chinnery, Patrick, Horvath, Rita
I publikationen J Neurol (2015)