Publications by Dr Lizzie Harris - ePrints

Browsing publications by Dr Lizzie Harris.

Newcastle Authors	Title	Year
Dr ursula Moore Roberto Fernandez-Torron Meredith James Dr Anna Mayhew Dr Lizzie Harris et al.	Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study	2022
Dr Ana Topf Daniel Cox Dr Lizzie Harris	STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39	2022
Dr Lizzie Harris Dr Umar Burki Professor Chiara Marini Bettolo Dr Marta Bertoli Dr Teresinha Evangelista et al.	Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains	2017
Dr Lizzie Harris Dr Rita Barresi Professor Chiara Marini Bettolo Dr Ana Topf Professor Volker Straub et al.	Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion	2017
Dr Hannah Steele Dr Lizzie Harris Dr Rita Barresi Dr John Bourke Professor Volker Straub et al.	Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study	2016
Dr Ursula Moore Meredith James Dr Anna Mayhew Dr Fiona Smith Dr Lizzie Harris et al.	Clinical outcome study for dysferlinopathy: One-year follow-up	2016
Sebastian Figueroa Bonaparte Dr Rita Barresi Dr Tuomo Polvikoski Dr Timothy Williams Dr Ana Topf et al.	Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK	2016
Dr Lizzie Harris Dr Catherine Bladen Dr Anna Mayhew Meredith James Karen Bettinson et al.	The Clinical Outcome Study for dysferlinopathy: An international multicenter study	2016
Dr Marta Bertoli Dr Ana Topf Dr Lizzie Harris Dr Steven Laval Dr Anna Sarkozy et al.	A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism	2015
Dr Lizzie Harris Emerita Professor Katherine Bushby Professor Hanns Lochmuller Professor Volker Straub Dr Rita Barresi et al.	A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome	2015
Dr Lizzie Harris Dr Ana Topf Professor Volker Straub	Clinical data and MRI findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations	2015
Dr Anna Mayhew Meredith James Dr Michelle Eagle Dr Catherine Bladen Karen Bettinson et al.	Preparation of a disease specific functional measure suitable for trials in dysferlinopathy	2015
Dr Lizzie Harris Karen Bettinson Meredith James Dr Anna Mayhew Dr Michelle Eagle et al.	International Clinical Outcome Study in Dysferlinopathy (COS): Results of screening questionnaires in UK patients	2014
Dr Anna Sarkozy Dr Debbie Hicks Dr Steven Laval Dr Rita Barresi Dr Lizzie Harris et al.	ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation	2013
Dr Anna Sarkozy Dr Debbie Hicks Dr Steven Laval Dr Rita Barresi Professor Michela Guglieri et al.	Clinical and molecular analysis of a large cohort of patients with anoctaminopathy	2013