Dr Ana Topf
Dr Katherine Johnson
Adam Bates
Lauren Charlotte Phillips Phillips
Dr Marta Bertoli
et al. | Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness | 2020 |
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Dr Kate Bailey
Dr Guy MacGowan
Dr Simon Tual-Chalot
Lauren Charlotte Phillips Phillips
Professor Deborah Henderson
et al. | Disruption of embryonic ROCK signalling reproduces the sarcomeric phenotype of Hypertrophic Cardiomyopathy | 2019 |
|
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 population | 2019 |
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Dr Katherine Johnson
Dr Marta Bertoli
Lauren Charlotte Phillips 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 weakness | 2018 |
|
Lauren Charlotte Phillips Phillips
Professor Volker Straub
| Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients | 2018 |
|
Dr Katherine Johnson
Lauren Charlotte Phillips Phillips
Dr Ana Topf
Professor Volker Straub
| Limb girdle muscular dystrophy due to mutations in POMT2 | 2018 |
|
Lauren Charlotte Phillips Phillips
Dr Katherine Johnson
Dr Marta Bertoli
Professor Hanns Lochmuller
Professor Volker Straub
et al. | A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population | 2017 |
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Dr Katherine Johnson
Lauren Charlotte Phillips Phillips
Dr Ana Topf
Professor Volker Straub
| Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046] | 2017 |
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