Toggle Main Menu Toggle Search

Open Access padlockePrints

Browsing publications by Lauren Charlotte Phillips Phillips.

Newcastle AuthorsTitleYearFull text
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 weakness2020
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 Cardiomyopathy2019
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 population2019
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 weakness2018
Lauren Charlotte Phillips Phillips
Professor Volker Straub
Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients2018
Dr Katherine Johnson
Lauren Charlotte Phillips Phillips
Dr Ana Topf
Professor Volker Straub
Limb girdle muscular dystrophy due to mutations in POMT22018
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 population2017
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