F Muntoni

Summary

Affiliation: University College London
Country: UK

Publications

  1. doi request reprint 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
  2. 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
  3. pmc Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle
    Martin Brockington
    Dubowitz Neuromuscular Centre, University College London Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom
    PLoS ONE 5:e14434. 2010
  4. pmc Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders
    Kamel Mamchaoui
    Thérapie des maladies du muscle strié, Institut de Myologie, UM76, UPMC Universite Paris 6, Paris, France
    Skelet Muscle 1:34. 2011
  5. pmc Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
    Maria Kinali
    The Dubowitz Neuromuscular Centre, University College London Institute of Child Health London, London, UK
    Lancet Neurol 8:918-28. 2009
  6. pmc Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
    Sebahattin Cirak
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK
    Lancet 378:595-605. 2011
  7. pmc A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
    Matteo Bovolenta
    Sezione di Genetica Medica, University of Ferrara, Italy
    BMC Genomics 9:572. 2008
  8. pmc Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials
    Karen Anthony
    The Dubowitz Neuromuscular Centre, UCL, Institute of Child Health, London WC1N 1EH, UK
    Brain 134:3547-59. 2011
  9. doi request reprint Targeting RNA to treat neuromuscular disease
    Francesco Muntoni
    UCL Institute of Child Health and Great Ormond Street Hospital, 30 Guildford Street, London WC1N 1EH, UK
    Nat Rev Drug Discov 10:621-37. 2011
  10. doi request reprint Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies
    Francesco Muntoni
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK
    Curr Opin Neurol 24:437-42. 2011

Detail Information

Publications130 found, 100 shown here

  1. doi request reprint 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...
  2. 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...
  3. pmc Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle
    Martin Brockington
    Dubowitz Neuromuscular Centre, University College London Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom
    PLoS ONE 5:e14434. 2010
    ..Pharmacological strategies to upregulate Large expression are also being explored...
  4. pmc Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders
    Kamel Mamchaoui
    Thérapie des maladies du muscle strié, Institut de Myologie, UM76, UPMC Universite Paris 6, Paris, France
    Skelet Muscle 1:34. 2011
    ..abstract:..
  5. pmc Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
    Maria Kinali
    The Dubowitz Neuromuscular Centre, University College London Institute of Child Health London, London, UK
    Lancet Neurol 8:918-28. 2009
    ....
  6. pmc Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
    Sebahattin Cirak
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK
    Lancet 378:595-605. 2011
    ..We report clinical safety and biochemical efficacy from a dose-ranging study of intravenously administered AVI-4658 phosphorodiamidate morpholino oligomer (PMO) in patients with Duchenne muscular dystrophy...
  7. pmc A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
    Matteo Bovolenta
    Sezione di Genetica Medica, University of Ferrara, Italy
    BMC Genomics 9:572. 2008
    ..2 Mb DMD gene...
  8. pmc Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials
    Karen Anthony
    The Dubowitz Neuromuscular Centre, UCL, Institute of Child Health, London WC1N 1EH, UK
    Brain 134:3547-59. 2011
    ..Taken together, our results indicate that all varieties of internally deleted dystrophin assessed in this study have the functional capability to provide a substantial clinical benefit to patients with Duchenne muscular dystrophy...
  9. doi request reprint Targeting RNA to treat neuromuscular disease
    Francesco Muntoni
    UCL Institute of Child Health and Great Ormond Street Hospital, 30 Guildford Street, London WC1N 1EH, UK
    Nat Rev Drug Discov 10:621-37. 2011
    ..Here, we review recent advances in the development of such antisense oligonucleotides and other promising novel approaches, including the induction of readthrough nonsense mutations...
  10. doi request reprint Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies
    Francesco Muntoni
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK
    Curr Opin Neurol 24:437-42. 2011
    ..This review discusses the recent novel discovery of additional dystroglycanopathy variants and progress in dystroglycanopathy animal models...
  11. doi request reprint Muscular dystrophies due to glycosylation defects
    Francesco Muntoni
    Department of Neuroscience, Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom
    Neurotherapeutics 5:627-32. 2008
    ..These observations suggest that there could be a role for therapeutic strategies to overcome the glycosylation defect in these conditions via the overexpression of LARGE...
  12. doi request reprint 149th ENMC International Workshop and 1st TREAT-NMD Workshop on: "planning phase i/ii clinical trials using systemically delivered antisense oligonucleotides in duchenne muscular dystrophy"
    Francesco Muntoni
    Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, 30 Guilford Street, London WC1N 1EH, UK
    Neuromuscul Disord 18:268-75. 2008
  13. ncbi request reprint 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...
  14. ncbi request reprint 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...
  15. ncbi request reprint 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
    ..Linkage analysis to the three collagen VI genes was performed in all informative families (n = 7), whereas immunohistochemical analysis of collagen VI expression in muscle was performed in the remaining cases...
  16. ncbi request reprint 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...
  17. ncbi request reprint 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...
  18. ncbi request reprint 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...
  19. ncbi request reprint 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...
  20. ncbi request reprint 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...
  21. ncbi request reprint 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...
  22. ncbi request reprint 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...
  23. ncbi request reprint 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...
  24. ncbi request reprint 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...
  25. ncbi request reprint 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...
  26. ncbi request reprint 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
  27. ncbi request reprint 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...
  28. 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...
  29. ncbi request reprint 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...
  30. ncbi request reprint 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...
  31. doi request reprint 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...
  32. 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...
  33. ncbi request reprint 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...
  34. doi request reprint 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...
  35. ncbi request reprint 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...
  36. ncbi request reprint 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...
  37. ncbi request reprint 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...
  38. doi request reprint Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008
    E M Clement
    Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London WC1N 1EH, United Kingdom
    Neuromuscul Disord 22:522-7. 2012
    ..In this large study on CMD the diagnostic outcomes compared favourably with other CMD population studies, indicating the importance of an integrated clinical and pathological assessment of this group of patients...
  39. ncbi request reprint 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...
  40. ncbi request reprint 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...
  41. ncbi request reprint 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...
  42. 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...
  43. ncbi request reprint 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...
  44. ncbi request reprint 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...
  45. doi request reprint 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...
  46. ncbi request reprint 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...
  47. doi request reprint 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...
  48. doi request reprint 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...
  49. ncbi request reprint RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine
    M A Illingworth
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK
    Neuromuscul Disord 24:707-12. 2014
    ..RYR1-related myopathy should be considered in the presence of fatigable weakness especially if muscle imaging demonstrates structural abnormalities. Single fibre electromyography can also be helpful in cases like this. ..
  50. ncbi request reprint 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...
  51. ncbi request reprint 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
    ....
  52. ncbi request reprint 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...
  53. doi request reprint 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...
  54. ncbi request reprint 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...
  55. ncbi request reprint 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...
  56. ncbi request reprint 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...
  57. ncbi request reprint 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...
  58. ncbi request reprint Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy
    M Kinali
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, Imperial College, Du Cane Road, London, W12 0HN, UK
    Eur J Paediatr Neurol 8:217-9. 2004
    ..This case report emphasizes that a borderline concentration of free carnitine does not exclude the diagnosis of primary carnitine deficiency. Concurrent measurement of carnitine in the plasma and urine is a more sensitive test...
  59. ncbi request reprint 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
    ....
  60. ncbi request reprint Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA
    L A Skordis
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Hum Genet 108:356-7. 2001
    ..Sequencing of the non-deleted SMN1 gene revealed a single G insertion at the end of exon 1 in the two cousins and a novel G275S exon 6 missense mutation in the milder case...
  61. ncbi request reprint 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...
  62. ncbi request reprint UK physicians' attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular Dystrophy
    M Kinali
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, London, UK
    Pediatr Rehabil 9:351-64. 2006
    ..In addition, different practices of disclosure of life-prolonging ventilation options were used by different physicians. Seventy-one per cent of physicians wished for national consensus guidelines for different DMD age groups...
  63. ncbi request reprint Pilot trial of albuterol in spinal muscular atrophy
    M Kinali
    Department of Paediatrics, Dubowitz Neuromuscular Centre, Imperial College School of Medicine, London, United Kingdom
    Neurology 59:609-10. 2002
    ..05). Albuterol may have a beneficial effect in patients with SMA without causing any significant adverse effects. Larger randomized, placebo-controlled trials are needed to confirm this observation...
  64. doi request reprint Diagnosis and new treatments in muscular dystrophies
    A Y Manzur
    Dubowitz Neuromuscular Centre, Department of Paediatric Neurology, Great Ormond Street Hospital for Children and Institute of Child Health, London WC1N 3JH, UK
    J Neurol Neurosurg Psychiatry 80:706-14. 2009
    ..The lessons learnt from DMD MDT management to improve survival are broadly applicable to LGMDs with severe motor disability/multisystem complications...
  65. doi request reprint Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
    N Dlamini
    Department of Paediatric Neurology, Neuromuscular Service, Evelina s Children Hospital, Guy s and St Thomas Hospital NHS Foundation Trust, London, UK
    Neuromuscul Disord 23:540-8. 2013
    ..Associated clinico-pathological features may be subtle and require a high degree of suspicion. Additional family studies are paramount in order to identify potentially MH susceptible relatives...
  66. doi request reprint Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy
    M E Garralda
    Academic Unit of Child and Adolescent Psychiatry, Imperial College London, London, UK
    Child Care Health Dev 39:449-55. 2013
    ..This study aimed to examine emotional impact on participants in a paediatric exon-skipping trial...
  67. ncbi request reprint 133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands
    F Muntoni
    Department of Paediatrics, Dubowitz Neuromuscular Centre, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 15:794-801. 2005
  68. ncbi request reprint Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement
    U Mohan
    Department of Paediatrics, St Mary's Hospital, London, UK
    Neuromuscul Disord 11:395-9. 2001
    ..Examples of axonal forms of hereditary motor and sensory neuropathy (HMSN) with onset in infancy are very rare and autonomic involvement associated with this condition has not so far been described...
  69. doi request reprint Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
    P Munot
    Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, 30 Guilford Street, London WC1N1EH, UK
    Neuromuscul Disord 20:796-800. 2010
    ..A mild abnormality in the single fibre EMG was documented on electrophysiology in both cases. These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations...
  70. pmc Are human and mouse satellite cells really the same?
    Luisa Boldrin
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health, 30 Guilford Street, London WC1N1EH, United Kingdom
    J Histochem Cytochem 58:941-55. 2010
    ....
  71. ncbi request reprint 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
  72. ncbi request reprint Occipito-temporal polymicrogyria and subclinical muscular dystrophy
    Z Zolkipli
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital Campus, London, UK
    Neuropediatrics 34:92-5. 2003
    ..Our findings suggest that serum CK should be determined in children with undiagnosed polymicrogyria, even in the absence of weakness. This may lead to an expansion of our understanding of muscle dystrophies and cortical dysplasias...
  73. pmc Muscle histology vs MRI in Duchenne muscular dystrophy
    M Kinali
    The Dubowitz Neuromuscular Centre, Institute of Child Health, London, UK
    Neurology 76:346-53. 2011
    ..The choice of the muscles to be studied and the role of noninvasive methods to assess muscle preservation therefore require further evaluation...
  74. pmc Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort
    G L Davidson
    Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK
    J Neurol 259:1673-85. 2012
    ..The p.Cys133Trp mutation in SPTLC1 is the most common cause of HSAN in the UK population and should be screened first in all patients with sporadic or autosomal dominant HSAN...
  75. pmc Issues in SMA clinical trial design. The International Coordinating Committee (ICC) for SMA Subcommittee on SMA Clinical Trial Design
    P Kaufmann
    Department of Neurology, Columbia University, New York, NY, USA, and Hammersmith Hospital, London, UK
    Neuromuscul Disord 17:499-505. 2007
  76. ncbi request reprint 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...
  77. pmc Mature adult dystrophic mouse muscle environment does not impede efficient engrafted satellite cell regeneration and self-renewal
    Luisa Boldrin
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, United Kingdom
    Stem Cells 27:2478-87. 2009
    ..These findings provide evidence that muscle tissue in a later stage of dystrophy may be effectively treated by stem cells...
  78. doi request reprint The contribution of human synovial stem cells to skeletal muscle regeneration
    Jinhong Meng
    The Dubowitz Neuromuscular Centre, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom
    Neuromuscul Disord 20:6-15. 2010
    ..Therefore, despite their limited capacity to regenerate skeletal muscle, hSSCs could play a role in treating muscular dystrophies secondary to defects in extracellular matrix proteins...
  79. ncbi request reprint 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...
  80. ncbi request reprint 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...
  81. 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...
  82. ncbi request reprint 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...
  83. ncbi request reprint Phenotypic spectrum associated with mutations in the fukutin-related protein gene
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom
    Ann Neurol 53:537-42. 2003
    ..MDC1C patients either carried 2 missense or 1 missense and 1 nonsense mutations. Patients with LGMD2I shared a common mutation (C826A,Leu276Ileu) and their phenotypic severity was correlated with the second allelic mutation...
  84. ncbi request reprint 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...
  85. pmc Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy
    N Cohen
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, UK
    Heart 90:835-41. 2004
    ..This review focuses on the major mechanisms that have been proposed to explain this disorder...
  86. ncbi request reprint Congenital muscular dystrophies (CMD)
    F Muntoni
    Dubowitz Neuromuscular Centre, Department of Paediatrics and Neonatal Medicine, Imperial College London, Hammersmith Campus, Du Cane Road, London W12 0NN, UK
    Eur J Paediatr Neurol 7:229. 2003
  87. pmc Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies
    Susan C Brown
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom
    Am J Pathol 164:727-37. 2004
    ....
  88. ncbi request reprint 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
    ....
  89. ncbi request reprint 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
    ....
  90. ncbi request reprint 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...
  91. ncbi request reprint 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...
  92. ncbi request reprint Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome
    Cecilia Jimenez-Mallebrera
    Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Eur J Paediatr Neurol 7:129-37. 2003
    ....
  93. ncbi request reprint Syncoilin upregulation in muscle of patients with neuromuscular disease
    Susan C Brown
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK
    Muscle Nerve 32:715-25. 2005
    ..These observations raise the possibility that mutations in the gene encoding for syncoilin may underlie some forms of muscle disease...
  94. ncbi request reprint 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...
  95. ncbi request reprint 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...
  96. ncbi request reprint 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...
  97. ncbi request reprint 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...
  98. doi request reprint Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations
    Andrea Klein
    Departments of Paediatric Neurology, University Children s Hospital Zurich, Zurich, Switzerland
    Arch Neurol 68:1171-9. 2011
    ....
  99. ncbi request reprint Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
    Heinz Jungbluth
    Department of Paediatric Neurology, Guy s Hospital, London, UK
    Neuromuscul Disord 14:785-90. 2004
    ..Muscle MRI may supplement clinical assessment and aid selection of genetic tests particularly in patients with non-diagnostic or equivocal histopathological features...
  100. ncbi request reprint Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures
    Eugenio Mercuri
    Department of Paediatrics and Neonatal Medicine, Dubowitz Neuromuscular Centre, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Neuromuscul Disord 15:164-71. 2005
    ....
  101. ncbi request reprint Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Hammersmith Hospital Imperial College, London, England
    Arch Neurol 61:690-4. 2004
    ..Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, have been associated with 7 distinct pathologic conditions...