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Browsing publications by
Dr Richard Charlton
Newcastle Authors
Title
Year
Full text
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 pathologies
2020
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 phenotypes
2018
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 Impairment
2017
Dr Richard Charlton
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Rita Barresi
et al.
The importance of dosage analysis in dysferlinopathy
2015
Dr Richard Charlton
Emerita Professor Katherine Bushby
Dr Rita Barresi
The National Diagnostic and Advisory Service for Limb-Girdle Muscular Dystrophies in Newcastle
2014
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 abnormalities
2013
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 inheritance
2012
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 gene
2011
Dr Lars Klinge
Dr Richard Charlton
Dr Steven Laval
Dr Mark Hornsey
Professor Volker Straub
et al.
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle
2010
Dr Richard Charlton
Dr Anna Sarkozy
Dr Debbie Hicks
Emerita Professor Katherine Bushby
Dr Rita Barresi
et al.
Muscle protein profile in Anoctaminopathies
2010
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