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Browsing publications by Dr Richard Charlton

Newcastle AuthorsTitleYearFull text
Dr Sabine Specht
Dr Jennifer Duff
Dr Richard Charlton
Dr Tuomo Polvikoski
Dr Rita Barresi
et al.
A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A2021
Daniel Cox
Dr Richard Charlton
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH2021
Professor Roger Whittaker
Dr Richard Charlton
Dr Rita Barresi
Professor Hanns Lochmuller
Professor Rita Horvath
et al.
Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies2020
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
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
Dr Richard Charlton
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Rita Barresi
et al.
The importance of dosage analysis in dysferlinopathy2015
Dr Richard Charlton
Emerita Professor Katherine Bushby
Dr Rita Barresi
The National Diagnostic and Advisory Service for Limb-Girdle Muscular Dystrophies in Newcastle2014
Dr Liesbeth De Waele
Dr Michelle Eagle
Dr Richard Charlton
Dr Langping He
Dr Emma Watson
et al.
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities2013
Dr Richard Charlton
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Dr Rita Barresi
et al.
A single in-frame deletion in the CAPN3 gene is linked to muscular dystrophy with a dominant pattern of inheritance2012
Dr Anna Sarkozy
Dr Michelle Eagle
Dr Richard Charlton
Dr Rita Barresi
Professor Hanns Lochmuller
et al.
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene2011
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