Dr Lars Klinge Dr Richard Charlton Dr Juliane Mueller Dr Louise VB Anderson Professor Volker Straub et al. | Late onset in dysferlinopathy widens the clinical spectrum | 2008 |
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Dr Louise VB Anderson
| A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein | 2007 |
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Dr Steven Laval Dr Louise VB Anderson Professor Volker Straub Emerita Professor Katherine Bushby
| AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration | 2007 |
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Dr Richard Charlton Dr Rita Barresi Dr Louise VB Anderson Dr Michelle Eagle Dr Mauro Santibanez Koref et al. | Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A | 2007 |
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Dr Louise VB Anderson
| Patients with a non-dysferlin miyoshi myopathy have a novel membrane repair defect | 2007 |
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Dr Louise VB Anderson
| Five year follow-up study in Miyoshi myopathy | 2006 |
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Dr Louise VB Anderson Emerita Professor Katherine Bushby
| Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice | 2006 |
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Emeritus Professor Clarke Slater Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby Dr Louise VB Anderson et al. | Altered protein localisation during muscle regeneration in humans and rats | 2005 |
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Faye Haldane Dr Steven Laval Dr Louise VB Anderson Emerita Professor Katherine Bushby
| Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display | 2005 |
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Dr Steven Laval Dr Lynsey Cree Faye Haldane Ilka Wappler Dr Heiko Peters et al. | The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice | 2005 |
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Dr Louise VB Anderson Emerita Professor Katherine Bushby Professor Volker Straub
| A new mutation in the transmembrane domain of Caveolin-3 in a patient with percussion-induced rapid muscle contractions | 2004 |
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Dr Louise VB Anderson Emerita Professor Katherine Bushby
| Abnormalities in alpha-Dystroglycan Expression in MDC1C and LGMD21 Muscular Dystrophies | 2004 |
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Dr Steven Laval Dr Lynsey Cree Faye Haldane Ilka Wappler Professor Hanns Lochmuller et al. | Cell culture, biochemical and microarray analyses of dysferlin | 2004 |
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Faye Haldane Emerita Professor Katherine Bushby Dr Louise VB Anderson
| Problems associated with the detection and interpretation of dysferlin deficiency | 2004 |
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Dr Louise VB Anderson
| A distinct phenotype of distal myopathy in a large Finnish family | 2003 |
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Dr Louise VB Anderson
| Altered expression of the ferlins following cell membrane injury in muscle cells | 2003 |
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Dr Louise VB Anderson
| Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus | 2003 |
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Dr Louise VB Anderson
| Sarcoglycans of the zebrafish: Orthology and localization to the sarcolemma and myosepta of muscle | 2003 |
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Dr Lynsey Cree Dr John Bourke Dr Michelle Eagle Dr Louise VB Anderson Dr Daniel Birchall et al. | The phenotype of limb-girdle muscular dystrophy type 2I | 2003 |
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Dr Louise VB Anderson Emerita Professor Katherine Bushby
| X-linked Emery-Dreifuss muscular dystrophy in a female with 45X/46XX mosaic constitution | 2003 |
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Dr Louise VB Anderson
| Clinical variability in calpainopathy: What makes the difference? | 2002 |
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Dr Louise VB Anderson
| Dysferlin expression after normal myoblast transplantation in SCID and in SJL mice | 2002 |
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Dr Louise VB Anderson
| Analysis of Protein Expression in the Muscular Dystrophies | 2001 |
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Dr Louise VB Anderson Emerita Professor Katherine Bushby
| Analysis of skeletal muscle from patients with facioscapulohumeral dystrophy | 2001 |
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Emerita Professor Katherine Bushby Dr Louise VB Anderson
| Autosomal dominant limb-girdle muscular dystrophy: description of a phenotype | 2001 |
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Dr Elizabeth Vafiadaki Dr Alexandra Reis Ruth Harrison Dr Louise VB Anderson Emerita Professor Katherine Bushby et al. | Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation | 2001 |
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Dr Louise VB Anderson
| Dysferlin protein analysis in limb-girdle muscular dystrophies | 2001 |
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Emerita Professor Katherine Bushby Dr Louise VB Anderson
| Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations | 2001 |
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Dr Louise VB Anderson
| Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers | 2001 |
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Dr Louise VB Anderson Dr Rumaisa Bashir Professor Volker Straub Emerita Professor Katherine Bushby
| Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C | 2001 |
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Dr Louise VB Anderson
| Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A | 2001 |
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Dr Louise VB Anderson
| Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A | 2001 |
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Dr Julie Gray Rebecca Harrison Dr Elizabeth Vafiadaki Dr Robert Pogue Emerita Professor Katherine Bushby et al. | Secondary changes in dysferlin expression | 2001 |
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Dr Robert Pogue Dr Louise VB Anderson Dr Angela Pyle Jennifer Moss Emerita Professor Katherine Bushby et al. | Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies | 2001 |
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Dr Louise VB Anderson
| The Molecular Basis of Muscle Disease | 2001 |
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Dr Louise VB Anderson Dr Robert Pogue Dr Angela Pyle Emerita Professor Katherine Bushby
| The phenotype of calpainopathy: Diagnosis based on a multidisciplinary approach | 2001 |
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Dr Louise VB Anderson
| Calpain3 expression during human cardiogenesis | 2000 |
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Dr Louise VB Anderson
| Diagnostic protein expression in human muscle biopsies | 2000 |
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Dr Louise VB Anderson
| Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family | 2000 |
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Dr Louise VB Anderson
| Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease | 2000 |
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Dr Louise VB Anderson
| Partial α-sarcoglycan deficiency with retention of the dystrophin- glycoprotein complex in a LGMD2D family | 2000 |
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Dr Louise VB Anderson
| Plenary Lecture L02: Muscular dystrophies | 2000 |
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Dr Louise VB Anderson
| Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy | 2000 |
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Dr Louise VB Anderson Ruth Harrison Dr Robert Pogue Dr Elizabeth Vafiadaki Jennifer Moss et al. | Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies) | 2000 |
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Dr Louise VB Anderson
| Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation | 2000 |
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Dr Louise VB Anderson
| A splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation | 1999 |
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Dr Louise VB Anderson
| Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A | 1999 |
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Dr Robert Pogue Dr Louise VB Anderson Emerita Professor Katherine Bushby
| Calpainopathy - A survey of mutations and polymorphisms | 1999 |
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Dr Louise VB Anderson
| Characterization of the transmembrane molecular architecture of the dystroglycan complex in Schwann cells | 1999 |
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Dr Louise VB Anderson Emerita Professor Katherine Bushby Dr Robert Pogue Dr Angela Pyle
| Definition of the phenotype in limb-girdle muscular dystrophy (LGMD) 2A, (calpainopathy) | 1999 |
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Dr Louise VB Anderson Dr Rumaisa Bashir Dr Elizabeth Vafiadaki Rebecca Harrison Emerita Professor Katherine Bushby et al. | Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B | 1999 |
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Dr Louise VB Anderson Jennifer Moss Dr Michael Cullen Dr Margaret Johnson Dr Rumaisa Bashir et al. | Dysferlin is a plasma membrane protein and is expressed early in human development | 1999 |
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Dr Rumaisa Bashir Dr Louise VB Anderson Jennifer Moss Stephen Britton Dr Elizabeth Vafiadaki et al. | Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s) | 1999 |
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Dr Louise VB Anderson
| Immunomarkers for molecular mass | 1999 |
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Emerita Professor Katherine Bushby Dr Louise VB Anderson Dr Rumaisa Bashir
| Merosin-positive congenital muscular dystrophy: a large inbred family | 1999 |
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Dr Louise VB Anderson
| Molecular analysis of a spontaneous dystrophin 'knockout' dog | 1999 |
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Dr Louise VB Anderson
| Multiplex Western blotting system for the analysis of muscular dystrophy proteins | 1999 |
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Dr Louise VB Anderson Dr Rumaisa Bashir Dr Elizabeth Vafiadaki Jennifer Moss Rebecca Harrison et al. | Redesignation of the SJL mouse (SJL-dysf) as a model for human dysferlin-deficient muscle disorders | 1999 |
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Dr Robert Pogue Dr Angela Pyle Rebecca Harrison Dr Louise VB Anderson Dr Ann Curtis et al. | Strategy for mutation analysis in the autosomal recessive limb girdle muscular dystrophies | 1999 |
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