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Plos Currents|June 22, 2013
Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysisElizabeth Harris, Steve Laval, Judith Hudson, et al.European Journal of Human Genetics : EJHG|March 5, 2009
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?Ralf Bauer, Judith Hudson, Harald D Müller, et al.Brain : a Journal of Neurology|December 7, 2007
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2AEmma J Groen, Richard Charlton, Rita Barresi, et al.Journal of Neurology, Neurosurgery, and Psychiatry|June 17, 2009
New aspects on patients affected by dysferlin deficient muscular dystrophyLars Klinge, Ahmed Aboumousa, Michelle Eagle, et al.Neuromuscular Disorders : NMD|June 28, 2008
Caveolinopathy--new mutations and additional symptomsAhmed Aboumousa, Jessica Hoogendijk, Richard Charlton, et al.European Journal of Human Genetics : EJHG|June 2, 2011
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneAnna Sarkozy, Christian Windpassinger, Judith Hudson, et al.Neuromuscular Disorders : NMD|July 19, 2017
A 'second truncation' in TTN causes early onset recessive muscular dystrophyElizabeth Harris, Ana Töpf, Anna Vihola, et al.Journal of Neurology|May 11, 2016
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registryTeresinha Evangelista, Libby Wood, Roberto Fernandez-Torron, et al.Rheumatology (Oxford, England)|July 15, 2021
Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosisItalo Marago, Mark Roberts, Federico Roncaroli, et al.Brain : a Journal of Neurology|June 5, 2016
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophyJohn Vissing, Rita Barresi, Nanna Witting, et al.Pageof 3