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Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.
A detailed population study of patients with genetic muscle disease in the northern region of England, comparing the case profile with that from Walton and Nattrass' seminal study from 1954, together with data from other more recent studies from around the world.
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
The development and analysis of the TREAT‐NMD DMD Global database is described and mutations were identified that would potentially benefit from novel genetic therapies for DMD including stop codon read‐through therapies and exon skipping therapy.
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
The spectrum of LGMD2I phenotypes ranged from infants with an early presentation and a Duchenne-like disease course including cardiomyopathy, to milder phenotypes compatible with a favourable long-term outcome, and at least two possible haplotypes in linkage disequilibrium with this mutation.
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
Using a positional cloning approach, the gene for a form of limb-girdle muscular dystrophy that was previously mapped to chromosome 2p13 (LGMD2B) is identified and the proposed name `dysferlin' combines the role of the gene in producing muscular Dystrophy with its C. elegans homology.
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
A marked inter‐ and intra‐familial variability in the clinical expression of LMNA mutations exists, ranging from patients expressing the full clinical picture of EDMD to those characterized only by cardiac involvement, which points toward a significant role of possible modifier genes in the course of this disease.
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Muscular dystrophies with reduced glycosylation of alpha-dystroglycan (alpha-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive conditions which
SOX2 anophthalmia syndrome
Identifying SOX2 mutations from large cohorts of patients with structural eye defects has delineated a new, clinically‐recognizable, multisystem disorder and has provided important insight into the developmental pathways critical for morphogenesis of the eye, brain, and male genital tract.
Collagen VI related muscle disorders
The clinical phenotypes of BM and UCMD are reviewed, the current knowledge of the pathogenesis of collagen VI related disorders is provided, and an overview of the currently known genes encoding collagen VI is provided.
Calpainopathy-a survey of mutations and polymorphisms.
This report represents a compilation of the mutations and variants identified so far in the human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family, and describes 56 of which have not been described previously.