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Browsing publications by
Dr Rita Barresi
Newcastle Authors
Title
Year
Full text
Dr Rita Barresi
Professor Jordi Diaz Manera
Genotype–phenotype correlations in recessive titinopathies
2020
Professor Roger Whittaker
Dr Richard Charlton
Dr Rita Barresi
Professor Hanns Lochmuller
Professor Rita Horvath
et al.
Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies
2020
Daniel Cox
Matt Henderson
Professor Volker Straub
Dr Rita Barresi
A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film
2019
Dr Katherine Johnson
Dr Ana Topf
Dr Marta Bertoli
Lauren Phillips
Dr James Miller
et al.
Extending the clinical and mutational spectrum of
TRIM32
-related myopathies in a non-Hutterite population
2019
Dr Lizzie Harris
Dr Chiara Marini Bettolo
Dr Ana Topf
Dr Rita Barresi
Dr Tuomo Polvikoski
et al.
MEGF10
related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes
2018
Dr Rita Barresi
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
2018
Dr Marta Bertoli
Dr Chiara Marini Bettolo
Professor Hanns Lochmuller
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy
2018
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
A 'second truncation' in
TTN
causes early onset recessive muscular dystrophy
2017
Dr Rita Barresi
Calpainopathy with macrophage-rich, regional inflammatory infiltrates
2017
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 domains
2017
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