Kate Bushby

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. ncbi request reprint Collagen type VI myopathies
    Kate M D Bushby
    Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Adv Exp Med Biol 802:185-99. 2014
  2. ncbi request reprint Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands
    K Bushby
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE3 4YQ, UK
    Neuromuscul Disord 14:526-34. 2004
  3. ncbi request reprint 145th ENMC International Workshop: planning for an International Trial of Steroid Dosage Regimes in DMD (FOR DMD), 22-24th October 2006, Naarden, The Netherlands
    K Bushby
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Neuromuscul Disord 17:423-8. 2007
  4. ncbi request reprint 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands
    K Bushby
    Department of Neuromuscular Genetics, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Neuromuscul Disord 13:166-72. 2003
  5. ncbi request reprint Interventions for muscular dystrophy: molecular medicines entering the clinic
    Kate Bushby
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Lancet 374:1849-56. 2009
  6. ncbi request reprint Diagnosis and management of the limb girdle muscular dystrophies
    Kate Bushby
    Pract Neurol 9:314-23. 2009
  7. ncbi request reprint Gene table: the limb-girdle muscular dystrophies
    Kate Buchby
    Institute of Human Genetics, University of Newcastle upon Tyne, UK
    Eur J Paediatr Neurol 6:233-4. 2002
  8. ncbi request reprint Nonmolecular treatment for muscular dystrophies
    Kate Bushby
    Newcastle upon Tyne Muscle Centre, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
    Curr Opin Neurol 18:511-8. 2005
  9. ncbi request reprint Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports
    K M Bushby
    Department of Human Genetics, Newcastle upon Tyne, UK
    Neuromuscul Disord 8:574-9. 1998
  10. ncbi request reprint Making sense of the limb-girdle muscular dystrophies
    K M Bushby
    Department of Biochemistry and Genetics, University of Newcastle upon Tyne, UK
    Brain 122:1403-20. 1999

Detail Information

Publications70

  1. ncbi request reprint Collagen type VI myopathies
    Kate M D Bushby
    Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Adv Exp Med Biol 802:185-99. 2014
    ..We discuss the diagnostic criteria of these disorders, the molecular pathogenesis, genetics, treatment, and related disorders. ..
  2. ncbi request reprint Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands
    K Bushby
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE3 4YQ, UK
    Neuromuscul Disord 14:526-34. 2004
  3. ncbi request reprint 145th ENMC International Workshop: planning for an International Trial of Steroid Dosage Regimes in DMD (FOR DMD), 22-24th October 2006, Naarden, The Netherlands
    K Bushby
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Neuromuscul Disord 17:423-8. 2007
  4. ncbi request reprint 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands
    K Bushby
    Department of Neuromuscular Genetics, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Neuromuscul Disord 13:166-72. 2003
  5. ncbi request reprint Interventions for muscular dystrophy: molecular medicines entering the clinic
    Kate Bushby
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Lancet 374:1849-56. 2009
    ..Various therapeutic targets are being investigated, from personalised medicines targeting specific mutations and drugs targeting cellular pathways to gene-based and cell-based therapies...
  6. ncbi request reprint Diagnosis and management of the limb girdle muscular dystrophies
    Kate Bushby
    Pract Neurol 9:314-23. 2009
    ..As more is understood about the clinical features of the different types of LGMD, targeted management is increasingly possible, especially focusing on those patients at high risk of cardiac and respiratory complications...
  7. ncbi request reprint Gene table: the limb-girdle muscular dystrophies
    Kate Buchby
    Institute of Human Genetics, University of Newcastle upon Tyne, UK
    Eur J Paediatr Neurol 6:233-4. 2002
  8. ncbi request reprint Nonmolecular treatment for muscular dystrophies
    Kate Bushby
    Newcastle upon Tyne Muscle Centre, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
    Curr Opin Neurol 18:511-8. 2005
    ..This review highlights emerging evidence on the management of patients with muscular dystrophies...
  9. ncbi request reprint Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports
    K M Bushby
    Department of Human Genetics, Newcastle upon Tyne, UK
    Neuromuscul Disord 8:574-9. 1998
    ..We believe that pain in FSHD is an under-reported but significant symptom and that further work is necessary to determine its prevalence, understand its cause and provide effective treatment...
  10. ncbi request reprint Making sense of the limb-girdle muscular dystrophies
    K M Bushby
    Department of Biochemistry and Genetics, University of Newcastle upon Tyne, UK
    Brain 122:1403-20. 1999
    ....
  11. ncbi request reprint The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms
    K M Bushby
    Department of Human Genetics, Newcastle upon Tyne, UK
    Hum Mol Genet 8:1875-82. 1999
    ..At a practical level, despite the marked heterogeneity of this group real progress can at last be made in determining a precise diagnosis...
  12. ncbi request reprint The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002
    K M D Bushby
    Institute of Human Genetics, International Centre for Life, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK
    Neuromuscul Disord 13:80-90. 2003
  13. pmc A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy
    Debbie Hicks
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 134:171-82. 2011
    ..191dupA, should be an early step in the diagnostic algorithm of adult limb-girdle muscular dystrophy patients...
  14. ncbi request reprint Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
    Lars Klinge
    Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, NE1 3BZ Newcastle upon Tyne, UK
    Neuromuscul Disord 18:934-41. 2008
    ..A concomitant reduction of dystrophin and beta-dystroglycan was observed more frequently than previously reported and illustrates the important differential diagnosis of DMD and BMD for sarcoglycan deficient LGMD...
  15. ncbi request reprint Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle
    Lars Klinge
    Institute of Human Genetics, International Centre for Life, University of Newcastle, Newcastle upon Tyne NE1 3BZ, UK
    Muscle Nerve 41:166-73. 2010
    ..These findings indicate that dysferlin is necessary for correct T-tubule formation, and dysferlin-deficient skeletal muscle is characterized by abnormally configured T-tubules...
  16. ncbi request reprint Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism
    Ralf Bauer
    Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne NE1 3BZ, UK
    Neuromuscul Disord 20:21-8. 2010
    ..This study demonstrates the beneficial effects of oral spironolactone on cardiac haemodynamics in Sgcd-null mice and its ability to prevent some of the adverse effects of glucocorticoids...
  17. pmc New aspects on patients affected by dysferlin deficient muscular dystrophy
    Lars Klinge
    University of Newcastle, Institute of Human Genetics, The Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
    J Neurol Neurosurg Psychiatry 81:946-53. 2010
    ....
  18. pmc Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
    Anna Sarkozy
    Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
    Eur J Hum Genet 19:1038-44. 2011
    ....
  19. doi request reprint Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency
    Alasdair J Wood
    International Centre for Life, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Hum Mol Genet 20:4879-90. 2011
    ..Despite anecdotal reports about vascular abnormalities in patients affected by dystroglycanopathies, the clinical relevance of such lesions remains unclear and should be subject to further review and investigations...
  20. pmc Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy
    Yen Hui Chiu
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Hum Mol Genet 18:1976-89. 2009
    ..This study reveals a novel pathomechanism affecting muscle regeneration and maintenance in dysferlinopathy and highlights enhancement of the neutrophil response as a potential therapeutic avenue in these disorders...
  21. pmc Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
    Ralf Bauer
    Institute of Human Genetics, Newcastle University, International Center for Life, Newcastle upon Tyne, UK
    Eur J Hum Genet 17:1148-53. 2009
    ....
  22. ncbi request reprint Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy
    Ralf Bauer
    Institute of Human Genetics, Newcastle University, International Center for Life, Newcastle upon Tyne, UK
    Eur J Heart Fail 11:463-71. 2009
    ..We aimed to determine the effects of steroids and ACE-I on development of left ventricular dysfunction in the mdx mouse, a model for dystrophin-deficient cardiomyopathy...
  23. ncbi request reprint Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes
    Juliane S Muller
    Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Hum Mol Genet 19:1726-40. 2010
    ..Our findings in the zebrafish model contribute to a better understanding of the signalling pathways at the NMJ and the pathomechanisms of DOK7 CMSs...
  24. ncbi request reprint Caveolinopathy--new mutations and additional symptoms
    Ahmed Aboumousa
    Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Neuromuscul Disord 18:572-8. 2008
    ..Presentation with myalgia is common and management of it as well as of myoglobinuria and hypoglycaemia may have a major impact on the patients' quality of life...
  25. ncbi request reprint Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I
    Kieren G Hollingsworth
    Newcastle Magnetic Resonance Centre, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK
    Eur J Heart Fail 15:986-94. 2013
    ..826C > A FKRP (fukutin-related protein) mutation, using a comprehensive magnetic resonance (MR) examination...
  26. pmc Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study
    Tracey A Willis
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, Shropshire, United Kingdom
    PLoS ONE 9:e90377. 2014
    ..We demonstrated (i) that the quantitative Dixon technique is an objective quantitative marker of disease and (ii) new observations of gender specific patterns of muscle involvement in LGMD2I...
  27. doi request reprint Magnetic resonance imaging in Duchenne muscular dystrophy: longitudinal assessment of natural history over 18 months
    Kieren G Hollingsworth
    Newcastle Magnetic Resonance Centre, Institute of Cellular Medicine, Campus for Ageing and Vitality, Newcastle University, Newcastle upon Tyne NE4 5PL, UK
    Muscle Nerve 48:586-8. 2013
    ..In this study we assessed the progression of fat replacement with T(1) -weighted imaging over 2 9-month periods...
  28. doi request reprint Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy
    Ralf Bauer
    Institute of Human Genetics, Newcastle University, International Center for Life, Newcastle upon Tyne, UK
    Eur J Heart Fail 12:1163-70. 2010
    ..Patients with mutations predisposing to cardiomyopathy often have routine assessments of left ventricular function. It is unclear whether asymptomatic mild cardiomyopathy should be treated with standard heart failure therapies...
  29. ncbi request reprint Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies
    Volker Straub
    Institute of Human Genetics, University of Newcastle upon Tyne, United Kingdom
    Neurotherapeutics 5:619-26. 2008
    ....
  30. pmc Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscle
    Louise H Jørgensen
    Institute of Human Genetics, International Centre of Life, Newcastle University, Newcastle upon Tyne, UK
    Am J Pathol 178:273-83. 2011
    ..These findings highlight the importance of analyzing several time points throughout the life of the treated mice, as well as analyzing many tissues, to get a complete picture of treatment efficacy...
  31. doi request reprint Presymptomatic late-onset Pompe disease identified by the dried blood spot test
    Matias Wagner
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Neuromuscul Disord 23:89-92. 2013
    ..The case highlights the variability in clinical phenotype and difficulties to diagnose late-onset Pompe disease. Dried Blood Spot (DBS) might be the most sensitive tool to pick up mildly symptomatic patients...
  32. ncbi request reprint Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
    Gerald Pfeffer
    Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
    J Neurol Neurosurg Psychiatry 85:331-8. 2014
    ..Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations could be a much more common cause of inherited muscle disease, especially in presence of early respiratory involvement...
  33. doi request reprint ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation
    Anna Sarkozy
    Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK
    Hum Mutat 34:1111-8. 2013
    ..Anoctaminopathy appears to be one of the most common adult muscular dystrophies in Northern Europe, with a prevalence of about 20%-25% in unselected undiagnosed cases. ..
  34. doi request reprint Muscular dystrophy in dysferlin-deficient mouse models
    Mark A Hornsey
    Newcastle University, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom
    Neuromuscul Disord 23:377-87. 2013
    ....
  35. doi request reprint Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy
    Anna G Mayhew
    Institute of Genetic Medicine, Newcastle University, Newcastle, UK
    Dev Med Child Neurol 55:1046-52. 2013
    ..In this study, we use Rasch-transformed data to examine the responsiveness and minimal important difference (MID) of the NSAA in males with DMD receiving different corticosteroid regimes...
  36. pmc Collagen VI related muscle disorders
    A K Lampe
    Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ
    J Med Genet 42:673-85. 2005
    ..Here we review the clinical phenotypes of BM and UCMD and their diagnosis and management, and provide an overview of the current knowledge of the pathogenesis of collagen VI related disorders...
  37. pmc Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
    Fiona L M Norwood
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 132:3175-86. 2009
    ..The study also illustrates the immense diagnostic progress since the first regional survey over 50 years ago by Walton and Nattrass...
  38. ncbi request reprint Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival
    Michelle Eagle
    University of Newcastle and Newcastle upon Tyne Hospitals Trust, New Castle Muscle Centre, Institute of Genetics, Center for Life, Central Parkway, Newcastle, NE13BZ, UK
    Neuromuscul Disord 17:470-5. 2007
    ..To determine the long term survival in patients with Duchenne muscular dystrophy (DMD) following spinal surgery and nocturnal ventilation...
  39. pmc Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study
    Tracey A Willis
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    PLoS ONE 8:e70993. 2013
    ..We hypothesised that quantitative fat imaging by MRI (Dixon technique) could provide more discriminating quantitative, patient-independent measurements of the progress of muscle fat replacement within individual muscle groups...
  40. ncbi request reprint MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise
    Penelope Garrood
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, United Kingdom
    J Magn Reson Imaging 30:1130-8. 2009
    ....
  41. ncbi request reprint Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)
    Paul Thornhill
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Brain 131:1551-61. 2008
    ..Further characterization of the developmental processes affected in FKRP morphant embryos may lead to a better understanding of the pathological spectrum observed in muscular dystrophies associated with mutations in the human FKRP gene...
  42. ncbi request reprint Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue
    D Hicks
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
    Brain 132:147-55. 2009
    ..Further work is needed on the relationship of PTP dysregulation with UCMD pathology...
  43. ncbi request reprint Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I
    Maja Poppe
    Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
    Ann Neurol 56:738-41. 2004
    ..These complications are a primary part of this specific type of limb-girdle muscular dystrophy, with important implications for management...
  44. ncbi request reprint From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis
    Lars Klinge
    Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Pkwy, NE1 3BZ Newcastle upon Tyne, England, UK
    FASEB J 21:1768-76. 2007
    ..These results shed light on the dynamics of muscle membrane repair and are highly indicative of a specific role of dysferlin in this process in early myogenesis...
  45. doi request reprint Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy
    Anna Mayhew
    Institute of Human Genetics, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
    Dev Med Child Neurol 53:535-42. 2011
    ..In this study, we used Rasch analysis to test its suitability in these roles as a measurement instrument...
  46. ncbi request reprint Limb-girdle muscular dystrophies
    Michela Guglieri
    Newcastle upon Tyne Muscle Centre, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
    Curr Opin Neurol 21:576-84. 2008
    ..The aim of this review is to provide an up-to-date analysis of current knowledge about limb-girdle muscular dystrophies (LGMDs)...
  47. ncbi request reprint Molecular treatments in Duchenne muscular dystrophy
    Michela Guglieri
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom
    Curr Opin Pharmacol 10:331-7. 2010
    ....
  48. pmc Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
    A K Lampe
    Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    J Med Genet 42:108-20. 2005
    ..BM is a relatively mild dominantly inherited disorder with proximal weakness and distal joint contractures. UCMD is an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity...
  49. ncbi request reprint Multiplex SSCP and heteroduplex analysis with Southern hybridization for large-scale mutation detection
    R Pogue
    Department of Human Molecular Genetics, University of Newcastle upon Tyne, Ridley Building, Claremont Road, Newcastle upon Tyne, NE1 7RU, United Kingdom
    Genomics 54:1-4. 1998
    ..We confirmed the validity of our approach by detecting 90% of mutations in a blind study of previously characterized mutations in the adenomatous polyposis coli (APC) gene that underlies familial adenomatous polyposis...
  50. ncbi request reprint Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy
    P Garrood
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Neuromuscul Disord 18:71-3. 2008
    ..Families and physicians need to have an increased awareness of this possibility and of the appropriate management of myoglobinuria...
  51. ncbi request reprint Late onset in dysferlinopathy widens the clinical spectrum
    L Klinge
    Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom
    Neuromuscul Disord 18:288-90. 2008
    ..This case represents the eldest age of onset of dysferlinopathy reported so far and widens the clinical spectrum of this disease...
  52. ncbi request reprint Limb-girdle muscular dystrophies--from genetics to molecular pathology
    S H Laval
    Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK
    Neuropathol Appl Neurobiol 30:91-105. 2004
    ....
  53. ncbi request reprint A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    R Bashir
    Department of Human Genetics, University of Newcastle upon Tyne, United Kingdom
    Nat Genet 20:37-42. 1998
    ..The proposed name 'dysferlin' combines the role of the gene in producing muscular dystrophy with its C. elegans homology...
  54. ncbi request reprint Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy
    Debbie Hicks
    MRC Centre for Neuromusc ular Disease at Newcastle, Institute of Genetic Medicine, Newcastle, UK
    Hum Mol Genet 23:2353-63. 2014
    ..We conclude that the spectrum of causative genes in extracellular matrix (ECM)-related myopathies be extended to include COL12A1. ..
  55. ncbi request reprint How to go about diagnosing and managing the limb-girdle muscular dystrophies
    Michela Guglieri
    Department of Genetics, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom
    Neurol India 56:271-80. 2008
    ..This article will concentrate on the diagnostic process by which these disorders can be defined and the implications of making these diagnoses...
  56. ncbi request reprint The limb-girdle muscular dystrophies--diagnostic strategies
    Kate Bushby
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Biochim Biophys Acta 1772:238-42. 2007
    ..This brings advantages for the patients of today in recognising the specific risks of their disorders, and in the future will be the starting point for specific gene and protein based therapies...
  57. ncbi request reprint Characterisation of the dysferlin skeletal muscle promoter
    R M Foxton
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Eur J Hum Genet 12:127-31. 2004
    ..Finally, the core promoter region has been screened for mutations in suspected dysferlinopathy patients...
  58. ncbi request reprint The third human FER-1-like protein is highly similar to dysferlin
    S Britton
    Molecular Genetics Unit, School of Biochemistry and Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, England, NE1 7RU, United Kingdom
    Genomics 68:313-21. 2000
    ..Sequence and predicted structural comparisons have highlighted the high degree of similarity of dysferlin and FER1L3, which have sequences corresponding to six C2 domains and which share more than 60% amino acid sequence identity...
  59. ncbi request reprint Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation
    E Vafiadaki
    School of Biochemistry and Genetics, University of Newcastle upon Tyne, UK
    Neuroreport 12:625-9. 2001
    ..The identification of this mutation has implications for the various groups using this widely available mouse stock...
  60. ncbi request reprint MRI for the demonstration of subclinical muscle involvement in muscular dystrophy
    S Sookhoo
    Department of Neuroradiology, Newcastle upon Tyne, UK
    Clin Radiol 62:160-5. 2007
    ..To compare magnetic resonance imaging (MRI) with clinical examination for the detection of muscle abnormality in patients with muscular dystrophy...
  61. ncbi request reprint The phenotype of limb-girdle muscular dystrophy type 2I
    M Poppe
    Institute of Human Genetics, the University Newcastle upon Tyne, UK
    Neurology 60:1246-51. 2003
    ..Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C)...
  62. ncbi request reprint The childhood limb-girdle muscular dystrophies
    Volker Straub
    Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Newcastle upon Tyne, United Kingdom
    Semin Pediatr Neurol 13:104-14. 2006
    ..In this review, the best characterized childhood limb-girdle muscular dystrophies are discussed and their management aspects highlighted...
  63. ncbi request reprint Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation
    Michelle Eagle
    Newcastle Muscle Centre, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Neuromuscul Disord 12:926-9. 2002
    ....
  64. ncbi request reprint The Golden Freeway: a preliminary evaluation of a pilot study advancing information technology as a social intervention for boys with Duchenne muscular dystrophy and their families
    Jennifer Soutter
    Department of Child Health, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne, UK
    Health Soc Care Community 12:25-33. 2004
    ..However, families did emphasise the value of the project as a way of opening the world for their sons...
  65. ncbi request reprint Survey of behaviour problems in children with neuromuscular diseases
    Joanne Darke
    Medical School, University of Newcastle, Newcastle, UK
    Eur J Paediatr Neurol 10:129-34. 2006
    ..Behaviour, social and communication problems are common in children with neuromuscular diseases and Regional Neuromuscular Clinics should consider mental health screening and assessment...
  66. ncbi request reprint A refined diagnostic algorithm for Bethlem myopathy
    D Hicks
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE1 3BZ, Great Britain
    Neurology 70:1192-9. 2008
    ..Unlike UCMD, BM is difficult to diagnose because of its clinical overlap with other contractural phenotypes and the lack of sensitivity of standard muscle biopsy immunohistochemical diagnostic techniques...
  67. ncbi request reprint Steroid treatment causes deterioration of myocardial function in the {delta}-sarcoglycan-deficient mouse model for dilated cardiomyopathy
    R Bauer
    Institute of Human Genetics, Newcastle University, International Center for Life, Newcastle upon Tyne NE1 3BZ, UK
    Cardiovasc Res 79:652-61. 2008
    ..The delta-sarcoglycan-deficient mouse (Sgcd-null) is a model for both limb girdle muscular dystrophy 2F (LGMD2F) and dilated cardiomyopathy...
  68. ncbi request reprint EFNS guideline on diagnosis and management of limb girdle muscular dystrophies
    F Norwood
    Institute of Human Genetics, Newcastle upon Tyne, UK
    Eur J Neurol 14:1305-12. 2007
    ..The proposed guidelines suggest an approach to the diagnosis and monitoring of the limb girdle dystrophies in a manner accessible to general neurologists...
  69. ncbi request reprint Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
    Katharine Bushby
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Lancet Neurol 9:77-93. 2010
    ..In part 1 of this Review, we describe the methods used to generate the recommendations, and the overall perspective on care, pharmacological treatment, and psychosocial management...
  70. ncbi request reprint Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
    A K Lampe
    Division of Neurology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Hum Mutat 29:809-22. 2008
    ....