Browsing publications by Professor Volker Straub

Newcastle AuthorsTitleYearFull text
Dr Katherine Johnson
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Professor Hanns Lochmuller
Professor Katherine Bushby
et al.
A 'second truncation' in TTN causes early onset recessive muscular dystrophy2017
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 Anna Sarkozy
Dr Marta Bertoli
Professor Volker Straub
Professor Katherine Bushby
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period2017
Dr Michela Guglieri
Professor Katherine Bushby
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
et al.
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy2017
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
Dr Ana Topf
Professor Volker Straub
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing2017
Brid Crowley
Professor Volker Straub
Dr Marta Bertoli
Multidisciplinary clinics2017
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
Professor Volker Straub
Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments2017
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