Toggle Main Menu Toggle Search

Open Access padlockePrints

Browsing publications by Dr Rita Barresi

Newcastle AuthorsTitleYearFull text
Dr Andreas Roos
Dr Hadil Alrohaif
Dr Rita Barresi
Dr Ana Topf
Dr Teresinha Evangelista
et al.		Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects2023
Dr ursula Moore
Professor Volker Straub
Dr Rita Barresi
Professor Michela Guglieri
Dr Hannah Hayhurst
et al.		Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy2022
Dr Sabine Specht
Dr Jennifer Duff
Dr Richard Charlton
Dr Tuomo Polvikoski
Dr Rita Barresi
et al.		A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A2021
Dr Rita Barresi
Professor Giorgio Tasca
Professor Jordi Diaz Manera
Genotype–phenotype correlations in recessive titinopathies2020
Professor Roger Whittaker
Dr Richard Charlton
Dr Rita Barresi
Professor Hanns Lochmuller
Professor Rita Horvath
Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies2020
Daniel Cox
Matt Henderson
Professor Volker Straub
Dr Rita Barresi
A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film2019
Dr Katherine Johnson
Dr Ana Topf
Dr Marta Bertoli
Lauren Charlotte Phillips Phillips
Dr James Miller
et al.		Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population2019
Dr Lizzie Harris
Professor 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 phenotypes2018
Dr Rita Barresi
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study2018
Dr Marta Bertoli
Professor 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 dystrophy2018
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 dystrophy2017
Dr Rita Barresi
Calpainopathy with macrophage-rich, regional inflammatory infiltrates2017
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 domains2017
Dr Rita Barresi
Diagnostic Pitfalls of an Atypical Form of Congenital Muscular Dystrophy - Partial Merosin Deficiency - Case Reports2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Dr Debbie Hicks
Dr Anna Porter
et al.		Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy2017
12345678