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Browsing publications by Dr Lizzie Harris.

Newcastle AuthorsTitleYearFull text
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 study2022
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-392022
Dr Lizzie Harris
Dr Umar Burki
Dr Chiara Marini Bettolo
Dr Marta Bertoli
Dr Teresinha Evangelista
et al.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains2017
Dr Lizzie Harris
Dr Rita Barresi
Dr Chiara Marini Bettolo
Dr Ana Topf
Professor Volker Straub
et al.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion2017
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 study2016
Dr Ursula Moore
Meredith James
Dr Anna Mayhew
Dr Fiona Smith
Dr Lizzie Harris
et al.
Clinical outcome study for dysferlinopathy: One-year follow-up2016
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 UK2016
Dr Lizzie Harris
Dr Catherine Bladen
Dr Anna Mayhew
Meredith James
Karen Bettinson
et al.
The Clinical Outcome Study for dysferlinopathy: An international multicenter study2016
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 symphalangism2015
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 syndrome2015
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 mutations2015
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 dysferlinopathy2015
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 patients2014
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 Mutation2013
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 anoctaminopathy2013