K M D Bushby

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. ncbi 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
  2. ncbi 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
  3. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi Diagnosis and management of the limb girdle muscular dystrophies
    Kate Bushby
    Pract Neurol 9:314-23. 2009
  8. ncbi 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
  9. ncbi 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
  10. ncbi 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

Collaborators

Detail Information

Publications30

  1. ncbi 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
  2. ncbi 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...
  3. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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...
  8. ncbi 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...
  9. ncbi 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
    ....
  10. ncbi 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...
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi 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...
  14. ncbi 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...
  15. ncbi 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
    ..The large number of single nucleotide polymorphisms which we generated in the course of this work may be of importance in determining the major phenotypic variability seen in this group of disorders...
  16. ncbi 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...
  17. ncbi 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...
  18. ncbi 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...
  19. ncbi 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
    ....
  20. ncbi 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...
  21. ncbi 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...
  22. ncbi 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
    ..CONCLUSIONS: LGMD2I due to FKRP mutations appears to be a relatively common cause of LGMD, with respiratory and cardiac failure as prominent complications...
  23. ncbi 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...
  24. ncbi 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...
  25. ncbi 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...
  26. ncbi 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...
  27. ncbi 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...
  28. ncbi 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...
  29. ncbi 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...
  30. ncbi 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
    ....