Browsing publications by Dr Rita Barresi

Newcastle AuthorsTitleYearFull text
Dr Rita Barresi
Diagnostic Pitfalls of an Atypical Form of Congenital Muscular Dystrophy - Partial Merosin Deficiency - Case Reports2017
Dr Andreas Roos
Daniel Cox
Dr Chiara Marini Bettolo
Dr Rita Barresi
Dr Richard Charlton
et al.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment2017
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 Rita Barresi
Professor Katherine Bushby
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies2016
Dr Rita Barresi
Professor Volker Straub
Professor Hanns Lochmuller
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy2016
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
Amy Vincent
Hannah Rosa
Charlotte Alston
Dr John Grady
Dr Karolina Rygiel
et al.
Dysferlin mutations and mitochondrial dysfunction2016
Dr Rita Barresi
Focal, macrophage rich myopathy as a manifestation of calpain-3 mutations: are there modifiers of histological phenotype?2016
Amy Vincent
Dr John Grady
Dr Mariana Rocha
Charlotte Alston
Dr Karolina Rygiel
et al.
Mitochondrial dysfunction in myofibrillar myopathy2016
Professor Katherine Bushby
Dr Rita Barresi
Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene2016
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