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Browsing publications by Professor Volker Straub

Newcastle AuthorsTitleYearFull text
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 phenotypes2018
Rebecca Crow
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
Professor Hanns Lochmuller
et al.
A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial2018
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair2018
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Phillips
Dr Ana Topf
Roberto Fernandez-Torron
et al.
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness2018
Lauren Phillips
Professor Volker Straub
Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients2018
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 population2018
Sarah Moore
Dr Katherine Johnson
Dr Teresinha Evangelista
Professor Volker Straub
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation2018
Dr Katherine Johnson
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
Limb girdle muscular dystrophy due to mutations in POMT22018
Dr Chiara Marini Bettolo
Professor Volker Straub
MRI in sarcoglycanopathies: a large international cohort study2018
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Fiona Smith
Dr Ursula Moore
et al.
Muscle MRI in dysferlinopathy patients: Pattern recognition and implications for clinical trials2018
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