Estelle Healy
Belfast Health and Social Care Trust(GB)
Publications by Year
Research Areas
Inflammatory Myopathies and Dermatomyositis, Glioma Diagnosis and Treatment, Pituitary Gland Disorders and Treatments, Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → BAG3 mutations: another cause of giant axonal neuropathy(2012)74 cited
- → Atypical periodic paralysis and myalgia(2018)53 cited
- → Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis(2016)52 cited
- → Two recurrent mutations are associated with GNE myopathy in the North of Britain(2014)39 cited
- → Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis(2014)27 cited
- → Ongoing Developments in Sporadic Inclusion Body Myositis(2014)27 cited
- → Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours(2022)21 cited
- → The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis(2015)20 cited
- → Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures(2016)14 cited
- → Genetic defects are common in myopathies with tubular aggregates(2021)14 cited