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Browsing publications by Professor Volker Straub

Newcastle AuthorsTitleYearFull text
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern2020
Dr Claire Wood
Professor Volker Straub
A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse2020
Emine Bagdatlioglu
Dr Paola Porcari
Liz Greally
Professor Andrew Blamire
Professor Volker Straub
et al.
Cognitive impairment appears progressive in the mdx mouse2020
Professor Volker Straub
Dr Ana Topf
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity2020
Dr Jana Haberlova
Professor Volker Straub
Dr Chiara Marini Bettolo
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)2020
Phillip Cammish
Dr Teresinha Evangelista
Professor Volker Straub
Dr Chiara Marini Bettolo
Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms2020
Dr Lindsay Murphy
Agata Robertson
Dr Ana Topf
Professor Volker Straub
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R92020
Dr Katherine Johnson
Dr Ana Topf
Rachel Thompson
Professor Hanns Lochmuller
Professor Volker Straub
et al.
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies2020
Dr Ana Topf
Dr Katherine Johnson
Adam Bates
Lauren Phillips
Dr Marta Bertoli
et al.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness2020
Dr Paola Porcari
Liz Greally
Professor Volker Straub
Professor Andrew Blamire
Time-dependent diffusion MRI as a probe of microstructural changes in a mouse model of Duchenne muscular dystrophy2020
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