F Muntoni

Summary

Affiliation: Imperial College
Country: UK

Publications

  1. pmc Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
    F Muntoni
    Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, UK
    Heart 78:608-12. 1997
  2. ncbi Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins
    F Muntoni
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
    Brain 129:1260-8. 2006
  3. ncbi Immunopathology and molecular genetics of dystrophinopathies
    S C Brown
    Neuromuscular Unit, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Suppl Clin Neurophysiol 57:313-21. 2004
  4. ncbi Defective glycosylation in congenital muscular dystrophies
    Francesco Muntoni
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College of Medicine, Hammersmith Hospital, London, UK
    Curr Opin Neurol 17:205-9. 2004
  5. ncbi Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands
    Guglielmina Pepe
    Department of Internal Medicine, University of Rome Tor Vergata, Via Tor Vergata, 135 Torre E sud, 2 degrees piano, stanza E202, 00133, Rome, Italy
    Neuromuscul Disord 12:984-93. 2002
  6. ncbi Defective glycosylation in muscular dystrophy
    Francesco Muntoni
    The Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, W12 0NN, London, UK
    Lancet 360:1419-21. 2002
  7. ncbi Genetic treatments in muscular dystrophies
    Francesco Muntoni
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital Campus, Imperial College London, London, UK
    Curr Opin Neurol 20:590-4. 2007
  8. ncbi Steroids in Duchenne muscular dystrophy: from clinical trials to genomic research
    Francesco Muntoni
    The Dubowitz Neuromuscular Centre, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 12:S162-5. 2002
  9. ncbi 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands
    F Muntoni
    Department of Paediatrics, Hammersmith Hospital, London, UK
    Neuromuscul Disord 12:889-96. 2002
  10. ncbi Muscle development genes: their relevance in neuromuscular disorders
    Francesco Muntoni
    Neuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Imperial College Faculty of Medicine, Hammersmith Hospital, Du Cane Road, London, UK
    Neuromuscul Disord 12:438-46. 2002

Detail Information

Publications154 found, 100 shown here

  1. pmc Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
    F Muntoni
    Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, UK
    Heart 78:608-12. 1997
    ..This study, together with previous reports, suggests that some patients with DC have a dystrophinopathy that can be diagnosed using a combination of biochemical and genetic analyses...
  2. ncbi Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins
    F Muntoni
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
    Brain 129:1260-8. 2006
    ..Furthermore, digenic inheritance may well contribute to the clinical severity of many other neuromuscular disorders...
  3. ncbi Immunopathology and molecular genetics of dystrophinopathies
    S C Brown
    Neuromuscular Unit, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Suppl Clin Neurophysiol 57:313-21. 2004
  4. ncbi Defective glycosylation in congenital muscular dystrophies
    Francesco Muntoni
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College of Medicine, Hammersmith Hospital, London, UK
    Curr Opin Neurol 17:205-9. 2004
    ..This article provides an overview of the clinical, biochemical and genetic advances that have been made over the last year in this field...
  5. ncbi Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands
    Guglielmina Pepe
    Department of Internal Medicine, University of Rome Tor Vergata, Via Tor Vergata, 135 Torre E sud, 2 degrees piano, stanza E202, 00133, Rome, Italy
    Neuromuscul Disord 12:984-93. 2002
  6. ncbi Defective glycosylation in muscular dystrophy
    Francesco Muntoni
    The Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, W12 0NN, London, UK
    Lancet 360:1419-21. 2002
    ..Disrupted glycosylation of alpha-dystroglycan results in a loss of these interactions, giving rise to both progressive muscle degeneration and abnormal neuronal migration in the brain...
  7. ncbi Genetic treatments in muscular dystrophies
    Francesco Muntoni
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital Campus, Imperial College London, London, UK
    Curr Opin Neurol 20:590-4. 2007
    ..This review focuses on three areas in which experimental clinical studies are in progress...
  8. ncbi Steroids in Duchenne muscular dystrophy: from clinical trials to genomic research
    Francesco Muntoni
    The Dubowitz Neuromuscular Centre, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 12:S162-5. 2002
    ....
  9. ncbi 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands
    F Muntoni
    Department of Paediatrics, Hammersmith Hospital, London, UK
    Neuromuscul Disord 12:889-96. 2002
  10. ncbi Muscle development genes: their relevance in neuromuscular disorders
    Francesco Muntoni
    Neuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Imperial College Faculty of Medicine, Hammersmith Hospital, Du Cane Road, London, UK
    Neuromuscul Disord 12:438-46. 2002
    ..We also examine the possibility that some rare human conditions associated with abnormal muscle formation may be due to genetic defects in one of the myogenic regulatory genes...
  11. ncbi 85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands
    Francesco Muntoni
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 12:69-78. 2002
  12. ncbi Cardiac complications of childhood myopathies
    Francesco Muntoni
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, UK
    J Child Neurol 18:191-202. 2003
    ....
  13. ncbi Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK
    Francesco Muntoni
    The Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College, W12 ONN London, UK
    Neuromuscul Disord 16:210-9. 2006
  14. ncbi [Dilated cardiomyopathy: role of clinical and instrumental evaluation of the neuromuscular system]
    Francesco Muntoni
    Department of Paediatrics and Neonatal Medicine, Imperial College, Faculty of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Ital Heart J Suppl 3:399-404. 2002
    ..This article is focused on practical clinical suggestions on when to suspect and how to investigate patients with a cardiomyopathy secondary to neuromuscular disorders...
  15. ncbi Dystrophin and mutations: one gene, several proteins, multiple phenotypes
    Francesco Muntoni
    Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, UK
    Lancet Neurol 2:731-40. 2003
    ..Here, we focus on current understanding of the genotype-phenotype relation for mutations in the dystrophin gene and their implications for gene functions...
  16. ncbi Gene table: congenital muscular dystrophies
    F Muntoni
    Department of Paediatric Neurology, Imperial College Faculty of Medicine, Hammersmith Hospital, London, UK
    Eur J Paediatr Neurol 6:79. 2002
  17. ncbi 128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands
    Francesco Muntoni
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, England
    Neuromuscul Disord 15:450-7. 2005
  18. ncbi Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
    H Jungbluth
    Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Campus, London, UK
    Neurology 65:1930-5. 2005
    ..External ophthalmoplegia is an additional finding in a subset of patients with MmD...
  19. ncbi Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
    M Brockington
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London, UK
    Hum Mol Genet 10:2851-9. 2001
    ..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...
  20. pmc Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42
    M Brockington
    Neuromuscular Unit, Division of Paediatrics, Obstetrics, and Gynaecology, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 ONN, United Kingdom
    Am J Hum Genet 66:428-35. 2000
    ..The secondary reduction in laminin-alpha2 chain in these families suggests that the primary genetic defect resides in a gene coding for a protein involved in basal lamina assembly...
  21. ncbi A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
    C Jimenez-Mallebrera
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
    Neuromuscul Disord 16:571-82. 2006
    ..In contrast, immunohistochemical analysis of skin biopsies may not always reveal an underlying collagen VI defect...
  22. ncbi Natural history of Ullrich congenital muscular dystrophy
    A Nadeau
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK
    Neurology 73:25-31. 2009
    ..To describe the course, complications, and prognosis of Ullrich congenital muscular dystrophy (UCMD), with special reference to life-changing events, including loss of ambulation, respiratory insufficiency, and death...
  23. ncbi Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression
    V Arechavala-Gomeza
    The Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, UK
    Neuropathol Appl Neurobiol 36:265-74. 2010
    ..We therefore sought to develop a method to quantify relative levels of sarcolemma-associated proteins using digitally captured images of immunolabelled sections of skeletal muscle...
  24. ncbi X-linked dilated cardiomyopathy and the dystrophin gene
    A Ferlini
    Department of Paediatrics and Neonatal Medicine, Imperial College of Medicine, London, UK
    Neuromuscul Disord 9:339-46. 1999
    ..The aim of this review is to attempt a genotype-phenotype correlation and speculate on common pathogenic mechanisms underlying this disease...
  25. ncbi Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, London, UK
    Muscle Nerve 31:602-9. 2005
    ..The fourth case had a mild and late-onset LGMD1B phenotype. Our cases further expand the clinical spectrum associated with mutations in the LMNA gene and provide new evidence of the role played by the C-terminal domain of lamin A...
  26. ncbi Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital Faculty of Medicine, Imperial College, London
    Neurology 58:1354-9. 2002
    ..However, the clinical spectrum, frequency, and level of heterogeneity of this disorder are not known...
  27. ncbi Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy
    C A Sewry
    Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, London, UK
    Neuropediatrics 28:217-22. 1997
    ..In addition, we show that there is a tissue-specific difference in the developmental expression of the laminin alpha 2 protein...
  28. ncbi Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies
    M R Ackroyd
    Department of Cellular and Molecular Neuroscience, Hammersmith Hospital, Imperial College, London, UK
    Brain 132:439-51. 2009
    ..These results suggest the generation of a mouse model for FKRP related muscular dystrophy requires a knock-down rather than a knock-in strategy in order to give rise to a disease phenotype...
  29. ncbi Minicore myopathy in children: a clinical and histopathological study of 19 cases
    H Jungbluth
    Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, W12 0NN, London, UK
    Neuromuscul Disord 10:264-73. 2000
    ..With the exception of one family in which two generations were affected, inheritance appeared autosomal-recessive or sporadic in all cases...
  30. ncbi Predictive factors for the development of scoliosis in Duchenne muscular dystrophy
    M Kinali
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, London, UK
    Eur J Paediatr Neurol 11:160-6. 2007
    ..We evaluated possible predictive factors for scoliosis development in a large DMD population...
  31. pmc A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart
    F Muntoni
    Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, UK
    J Clin Invest 96:693-9. 1995
    ..This family may represent the first example of a mutation specifically affecting the cardiac expression of a gene, present physiologically in both the skeletal and cardiac muscles...
  32. ncbi Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy
    C A Sewry
    Department of Paediatrics and Neonatal Medicine, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, London W12 ONN, UK
    Lancet 347:582-4. 1996
    ..Here we have investigated laminin alpha2 deficiency in skin biopsy specimens from two patients with congenital muscular dystrophy...
  33. ncbi Congenital muscular dystrophy with short stature, proximal contractures and distal laxity
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, London, UK
    Neuropediatrics 35:224-9. 2004
    ..These findings extend the phenotypes within the CMD classification...
  34. ncbi Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions
    S Torelli
    The Dubowitz Neuromuscular Centre, Department of Paediatrics and Neonatal Medicine, Imperial College London, London, UK
    Neuropathol Appl Neurobiol 30:540-5. 2004
    ..Immaturity of fibres, however, needs to be taken into account, especially in neonates...
  35. ncbi Pilot trial of salbutamol in central core and multi-minicore diseases
    S Messina
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital, London, UK
    Neuropediatrics 35:262-6. 2004
    ..Larger prospective randomised, double-blind, placebo-controlled trials with salbutamol will be needed to confirm these preliminary findings...
  36. ncbi A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus
    L Hartley
    Dubowitz Neuromuscular Centre, Department of Pediatrics, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 17:174-9. 2007
    ..These seven infants are affected by a myopathic condition clinically resembling SMARD1. However, its pathogenesis appears to be a myopathy affecting predominantly the diaphragm...
  37. ncbi 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)
    F Muntoni
    Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, W12 ONN, London, UK
    Neuromuscul Disord 13:579-88. 2003
  38. ncbi Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy
    E Mercuri
    Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, London, UK
    Neuropediatrics 33:10-4. 2002
    ....
  39. pmc Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
    M Brockington
    The Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital Campus, London, United Kindom
    Am J Hum Genet 69:1198-209. 2001
    ..We suggest these abnormalities of alpha-dystroglycan are caused by its defective glycosylation and are integral to the pathology seen in MDC1C...
  40. ncbi Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy
    E Mercuri
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
    Neuromuscul Disord 11:297-9. 2001
    ..These results suggest that, by using appropriate sequences, mild white matter changes may be detectable on brain magnetic resonance imaging in the first days of life in infants with merosin-deficient congenital muscular dystrophy...
  41. ncbi Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital Faculty of Medicine, Imperial College, London, UK
    Neuromuscul Disord 13:554-8. 2003
    ..Mutation analysis of the collagen 6 genes in cases with normal collagen VI expression is needed to resolve this issue...
  42. pmc A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy
    A Ferlini
    Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, London W12 ONN, United Kingdom
    Am J Hum Genet 63:436-46. 1998
    ..Our report underlines the complexity of the pathogenic mechanism leading to X-linked dilated cardiomyopathy but suggests that differences in tissue-specific expression of dystrophin mutations may be a common feature in this condition...
  43. ncbi Diaphragmatic spinal muscular atrophy with bulbar weakness
    E Mercuri
    Department of Paediatrics and Neonatal Medicine and Dubowitz Neuromuscular Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Eur J Paediatr Neurol 4:69-72. 2000
    ..Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy...
  44. ncbi Congenital myasthenic syndromes in childhood: diagnostic and management challenges
    M Kinali
    The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital and Institute of Child Health, University College, London, UK
    J Neuroimmunol 201:6-12. 2008
    ..This guides rational therapy and multidisciplinary management, which may be crucial for survival, particularly in pedigrees where previous deaths have occurred in infancy...
  45. ncbi Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
    H Jungbluth
    Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London, UK
    Neurology 59:284-7. 2002
    ..Molecular genetic studies in one family identified a V4849I homozygous missense mutation in the RYR1 gene. This report suggests a congenital myopathy associated with recessive RYR1 mutations...
  46. ncbi Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 ONN, UK
    Neuromuscul Disord 14:125-9. 2004
    ..The identical clinical and imaging features of the sporadic and familial cases suggest that these cases are likely to be affected by the same condition...
  47. ncbi Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
    L Maggi
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children Foundation Trust, London, UK
    Neuromuscul Disord 23:195-205. 2013
    ..The underlying genetic defect remains to be identified in 1/3 of congenital myopathies cases...
  48. pmc Flow cytometry analysis: a quantitative method for collagen VI deficiency screening
    J Kim
    Dubowitz Neuromuscular Centre, University College London Institute of Child Health, London, UK
    Neuromuscul Disord 22:139-48. 2012
    ..Flow cytometry analysis provides an alternative method for screening for collagen VI deficiency at the protein level in a quantitative, time and cost-effective manner...
  49. ncbi Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia
    M Kinali
    Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College School of Medicine, London, UK
    Neuromuscul Disord 14:689-93. 2004
    ..We conclude that mutations in the potassium channel gene (KCNA1) can cause severe neuromyotonia resulting in marked skeletal deformities even if episodic ataxia is not prominent...
  50. pmc Muscular dystrophies due to defective glycosylation of dystroglycan
    F Muntoni
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK
    Acta Myol 26:129-35. 2007
    ..Systematic mutation analysis of these 6 glycosyltransferases in patients with a dystroglycan glycosylation disorder identifies mutations in approximately 65% suggesting that more genes have yet to be identified...
  51. ncbi Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain
    C A Sewry
    Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Neuromuscul Disord 7:169-75. 1997
    ..It is also important to study the expression of laminin alpha 2 with more than one antibody...
  52. ncbi Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
    Matthew R G Taylor
    University of Colorado Cardiovascular Institute, Denver, Colorado 80010, USA
    J Am Coll Cardiol 41:771-80. 2003
    ..We examined the prevalence, genotype-phenotype correlation, and natural history of lamin A/C gene (LMNA) mutations in subjects with dilated cardiomyopathy (DCM)...
  53. ncbi A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan
    Pervin Dincer
    Department of Medical Biology, Hacettepe University, Ankara, Turkey
    Neuromuscul Disord 13:771-8. 2003
    ..The biochemical studies suggest that it may belong to the growing number of muscular dystrophies with abnormal expression of alpha-dystroglycan...
  54. ncbi Prenatal diagnosis in merosin-deficient congenital muscular dystrophy
    I Naom
    Department of Paediatrics, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Neuromuscul Disord 7:176-9. 1997
    ..The results are easy to interpret in families with total absence of the protein, while caution is required when dealing with families where partial expression occurs...
  55. ncbi Update on the management of Duchenne muscular dystrophy
    A Y Manzur
    Dubowitz Neuromuscular Centre, Department of Paediatric Neurology, Great Ormond Street Hospital for Children, Institute of Child Health, London, UK
    Arch Dis Child 93:986-90. 2008
    ..Several curative therapeutic strategies including cell and gene therapy are being pursued but are still at an experimental stage...
  56. ncbi Bone mineral density in a paediatric spinal muscular atrophy population
    M Kinali
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, London W12 OHN, UK
    Neuropediatrics 35:325-8. 2004
    ..The aim of this study was to assess bone mineral density in children with spinal muscular atrophy (SMA) and to evaluate bone mineral density in relation to age and motor disability...
  57. ncbi Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?
    J Philpot
    Neuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, W12 0NN, London, UK
    Neuromuscul Disord 11:489-93. 2001
    ..Understanding more about which muscles are affected in children with congenital myopathies may provide information on the underlying pathological process and help in the search for candidate proteins and genes...
  58. ncbi Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle
    V Arechavala-Gomeza
    Department of Paediatrics, Imperial College, London W12ONN, United Kingdom
    Hum Gene Ther 18:798-810. 2007
    ..Data have been validated independently in the different model systems used, and the studies describe a rational collaborative path for the preclinical selection of AOs for evaluation in future clinical trials...
  59. ncbi Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
    Cheryl Longman
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Campus, London, UK
    Hum Mol Genet 12:2853-61. 2003
    ..This is the first description of mutations in the human LARGE gene and we propose to name this new disorder MDC1D...
  60. pmc A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity
    Cecilia Jimenez-Mallebrera
    Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK
    Brain Pathol 19:596-611. 2009
    ..These data indicate that it is not always possible to correlate clinical course and alpha-dystroglycan labeling and suggest that there might be differences in alpha-dystroglycan processing in these disorders...
  61. doi Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement
    T Cullup
    DNA Laboratory, GSTS Pathology, Guy s Hospital, London, UK
    Neuromuscul Disord 22:1096-104. 2012
    ..However, clinical features previously associated with this genetic background, namely a more distal distribution of weakness and an associated cardiomyopathy, may only evolve over time...
  62. ncbi X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10
    N Trump
    DNA Laboratory, GSTS Pathology, Guy s Hospital, London, UK
    Neuromuscul Disord 22:384-8. 2012
    ..Our findings suggest that complex rearrangements have to be considered in typically affected males with X-linked myotubular myopathy...
  63. ncbi Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells
    N F Dolatshad
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College, Du Cane Road, London W12 ONN, UK
    Exp Cell Res 309:370-8. 2005
    ....
  64. ncbi Congenital muscular dystrophy: molecular and cellular aspects
    C Jimenez-Mallebrera
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, United Kingdom
    Cell Mol Life Sci 62:809-23. 2005
    ..In this review we present the major molecular, clinical and diagnostic aspects of each group of congenital muscular dystrophy with an emphasis in the more recent developments...
  65. doi SEPN1-related myopathies: clinical course in a large cohort of patients
    M Scoto
    The Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK
    Neurology 76:2073-8. 2011
    ..To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study...
  66. ncbi The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs
    A Ferlini
    Department of Paediatrics and Neonatal Medicine, Imperial College of Science, Technology and Medicine, London, United Kingdom
    Biochem Biophys Res Commun 242:401-6. 1998
    ..We hypothesise that the 5' region of the dystrophin intron 11, containing common target areas for the insertion of mobile elements, may have a role in the rearrangement of this novel Alu-like sequence...
  67. ncbi Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene
    H Jungbluth
    Department of Paediatrics and Neonatal Medicine, Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, W12 0NN, London, UK
    Neuromuscul Disord 11:35-40. 2001
    ..In addition, it shows the diversity of pathological features that can occur in congenital myopathies due to mutations in the same gene...
  68. ncbi Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation
    H Jungbluth
    Department of Paediatrics, Dubowitz Neuromuscular Centre, Imperial College Faculty of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Neuromuscul Disord 13:55-9. 2003
    ..This case emphasizes that investigation of the MTM1 gene and X-inactivation studies are indicated in isolated females with histopathological and clinical findings suggestive of myotubular myopathy...
  69. ncbi Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
    Caroline Godfrey
    Dubowitz Neuromuscular Unit, Hammersmith Hospital, Imperial College, London, UK
    Brain 130:2725-35. 2007
    ..Mutations in these five glycosyltransferase genes were detected in 34% of patients indicating that, after the exclusion of FKRP, the majority of patients with a dystroglycanopathy harbour mutations in novel genes...
  70. ncbi Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
    Marcella Neri
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Neuromuscul Disord 17:913-8. 2007
    ..This information will be of help for the development of therapeutic approaches aimed at restoring dystrophin levels sufficient to prevent the muscle pathology in DMD...
  71. ncbi Prednisolone-induced changes in dystrophic skeletal muscle
    Ivan Fisher
    Muscle Cell Biology Group, MRC Clinical Sciences Centre, Imperial College, London, UK
    FASEB J 19:834-6. 2005
    ..These results show that glucocorticoids confer their benefit to dystrophic muscle in a complex fashion, culminating in a switch to a more normal muscle fiber type...
  72. ncbi Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle
    Kim E Wells
    Department of Neuromuscular Diseases, Imperial College Faculty of Medicine, Charing Cross Hospital, St Dunstan s Road, W6 8RP, London, UK
    Neuromuscul Disord 13:21-31. 2003
    ....
  73. ncbi The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
    Jeroen van Reeuwijk
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 27:453-9. 2006
    ..Our data suggest the existence of a disease spectrum of CMD including brain and eye abnormalities resulting from POMT1 mutations...
  74. ncbi Differential diagnosis of congenital muscular dystrophies
    Andrea Klein
    Department of Neurology, University Children s Hospital Zurich, Switzerland
    Eur J Paediatr Neurol 12:371-7. 2008
    ..This paper aims to highlight these conditions as the common differentials or more difficult to diagnoses to consider in patients presenting as CMD...
  75. ncbi Non-sarcolemmal muscular dystrophies
    S C Brown
    Dubowitz Neuromuscular Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Brain Pathol 11:193-205. 2001
    ..This review outlines the genetic basis of these "non-sarcolemmal" forms of dystrophy and discusses current ideas on their pathogenesis...
  76. ncbi Remission of clinical signs in early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy
    V Dubowitz
    Dubowitz Neuromuscular Centre, Department of Paediatrics, London, UK
    Eur J Paediatr Neurol 6:153-9. 2002
    ....
  77. ncbi Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study
    M Kinali
    Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammersmith Hospital Campus, Imperial College London, UK
    Dev Med Child Neurol 48:513-8. 2006
    ..We provide insight into the natural history of scoliosis in DMD that should help families and clinicians with decision-making when surgery is considered...
  78. ncbi Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, London, UK
    Neuropediatrics 31:186-9. 2000
    ..Linkage analysis excluded all the known loci for CMD. We propose that this may represent a novel variant of CMD...
  79. ncbi The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies
    M Brockington
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital Campus, Imperial College, London, UK
    Acta Myol 24:217-21. 2005
    ..LARGE and/or LARGE-L up regulation could therefore represent a therapeutic option for patients affected by dystroglycanopathies, regardless of their primary defect...
  80. ncbi Journey into muscular dystrophies caused by abnormal glycosylation
    Francesco Muntoni
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College of Medicine, Hammersmith Hospital, London, UK
    Acta Myol 23:79-84. 2004
    ..This article provides an overview of the clinical, biochemical and genetic features of this group of disorders...
  81. ncbi Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
    Silvia Torelli
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College London, Hammersmith Campus, UK
    Neuromuscul Disord 15:836-43. 2005
    ..These observations imply a specific role for FKRP during striated muscle, neuronal and glial development and suggest that protein mis-localisation is not a common mechanism of disease in FKRP-related dystrophies...
  82. ncbi Magnetic resonance imaging of muscle in nemaline myopathy
    Heinz Jungbluth
    Department of Paediatric Neurology, Guy s Hospital, London, UK
    Neuromuscul Disord 14:779-84. 2004
    ....
  83. ncbi Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant
    Emma M Clement
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College London, Du Cane Road, London W12 ONN, England
    Arch Neurol 65:137-41. 2008
    ..Mutations in protein-O-mannose-beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy with structural eye and brain defects and severe mental retardation...
  84. ncbi Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
    Emma Clement
    Dubowitz Neuromuscular Unit, Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom
    Ann Neurol 64:573-82. 2008
    ....
  85. ncbi Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
    Caroline Godfrey
    DNA Laboratory, Genetics Centre, Guy s Hospital, London, United Kingdom
    Ann Neurol 60:603-10. 2006
    ..The aim of this study was to determine the genetic defect in two white families with a dystroglycanopathy...
  86. pmc Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A
    E Mercuri
    Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0HN, UK
    Arch Dis Child 81:442-3. 1999
    ....
  87. ncbi Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
    Heinz Jungbluth
    Clinical Neuroscience Division, King s College, London, UK
    Neuromuscul Disord 19:344-7. 2009
    ..Late-onset congenital myopathies may be under-recognised and diagnosis requires a high degree of clinical suspicion...
  88. ncbi In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy
    Niaz Cohen
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Biochem Biophys Res Commun 317:1215-20. 2004
    ..Furthermore, the cultured cell system used can serve as a suitable model to study human alternative splicing...
  89. pmc Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies
    Ana Ferreiro
    INSERM U523, Institut de Myologie, Institut Fédératif de Recherche 14 Coeur, Muscle et Vaisseaux, Paris, France
    Am J Hum Genet 71:739-49. 2002
    ..The present study represents the first identification of a gene responsible for classical MmD, demonstrates its genetic heterogeneity, and reassesses the nosological boundaries between MmD and RSMD...
  90. ncbi Fatal infantile neuromuscular presentation of glycogen storage disease type IV
    Stacey K H Tay
    Department of Neurology, College of Physicians and Surgeons, Columbia University, 4 420, 630 West 168th Street, New York, NY 10032, USA
    Neuromuscul Disord 14:253-60. 2004
    ..The infantile neuromuscular form of glycogen storage disease type IV is considered extremely rare, but our encountering two patients in close succession suggests that the disease may be underdiagnosed...
  91. ncbi Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy
    C A Sewry
    Department of Histopathology, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, SY10 7AG, Oswestry, UK
    Neuromuscul Disord 11:146-53. 2001
    ..In addition, they may also be relevant to studies of fibre type plasticity and diversity in nemaline myopathy...
  92. ncbi Inherited disorders of the extracellular matrix
    C A Sewry
    Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Curr Opin Neurol 12:519-26. 1999
    ..Animal models are helping to elucidate the function of some of these proteins, to develop therapeutic strategies and to suggest candidate proteins for other neuromuscular disorders...
  93. ncbi Magnetic resonance imaging assessment of infantile myofibromatosis
    S J Counsell
    Robert Steiner MR Unit, MRC Clinical Sciences Centre, Imperial College, Hammersmith Hospital, London, UK
    Clin Radiol 57:67-70. 2002
  94. ncbi Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
    C A Sewry
    Department of Histopathology, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Trust, Oswestry, UK
    Neuropathol Appl Neurobiol 27:281-90. 2001
    ..Immunodetection of reduced laminin beta1 may be a useful secondary marker in adults with this disorder, as immunocytochemistry of lamins is not yet of diagnostic use...
  95. ncbi Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Curr Opin Neurol 18:526-37. 2005
    ..This review reports on the use of muscle magnetic resonance imaging as a clinical and research tool in inherited neuromuscular disorders...
  96. ncbi Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
    Eugenio Mercuri
    Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College, Du Cane Road, W12 OHN, London, UK
    Neuromuscul Disord 12:631-8. 2002
    ....
  97. ncbi Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital Campus, London, United Kingdom
    Arch Neurol 63:251-7. 2006
    ..To report the spectrum of brain magnetic resonance imaging findings in 13 patients with congenital muscular dystrophy and FKRP gene mutations and to explore possible genotype-phenotype correlations...
  98. ncbi An effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne dystrophy
    Maria Kinali
    Department of Paediatrics, Dubowitz Neuromuscular Centre, ICSM Hammersmith Campus, London W12 ONN, UK
    Neuromuscul Disord 12:S169-74. 2002
    ..The striking response also suggests that there may be an optimal window for treatment of Duchenne dystrophy in the early stages of the disease...
  99. ncbi Muscle MRI findings in a three-generation family affected by Bethlem myopathy
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Eur J Paediatr Neurol 6:309-14. 2002
    ..Further studies in a larger cohort are needed to evaluate the specificity of these findings...
  100. ncbi Muscle MRI in inherited neuromuscular disorders: past, present, and future
    Eugenio Mercuri
    Department of Child Neurology and Psychiatry, Catholic University, Rome, Italy
    J Magn Reson Imaging 25:433-40. 2007
    ..Possible future applications of muscle MRI are also discussed...
  101. ncbi Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials
    Virginia Arechavala-Gomeza
    The Dubowitz Neuromuscular Centre, Institute of Child Health, University College, London, UK
    Neuromuscul Disord 20:295-301. 2010
    ..23 years (5.8-10.4 years) after the original diagnostic biopsy. This information should help in the design and execution of clinical trials focused on dystrophin restoration strategies...