E Mercuri

Summary

Affiliation: Imperial College
Country: UK

Publications

  1. 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
  2. ncbi 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
  3. 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
  4. 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
  5. ncbi Neurologic examination of preterm infants at term age: comparison with term infants
    Eugenio Mercuri
    Department of Pediatrics, Hammersmith Campus, Imperial College School of Medicine, London, and Jessop Women s Hospital, Sheffield, United Kingdom
    J Pediatr 142:647-55. 2003
  6. ncbi 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
  7. ncbi MRI lesions and infants with neonatal encephalopathy. Is the Apgar score predictive?
    E Mercuri
    Department of Paediatrics Imperial College School of Medicine, Hammersmith Campus, London, United Kindom
    Neuropediatrics 33:150-6. 2002
  8. 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
  9. 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
  10. ncbi The development of vision
    Eugenio Mercuri
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 83:795-800. 2007

Detail Information

Publications128 found, 100 shown here

  1. 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...
  2. ncbi 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
    ....
  3. 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
    ....
  4. 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
    ..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...
  5. ncbi Neurologic examination of preterm infants at term age: comparison with term infants
    Eugenio Mercuri
    Department of Pediatrics, Hammersmith Campus, Imperial College School of Medicine, London, and Jessop Women s Hospital, Sheffield, United Kingdom
    J Pediatr 142:647-55. 2003
    ..The aim was to establish the range of neurologic findings in preterm infants reaching term age, their relation to gestational age at birth, and the possible differences with healthy term newborns tested during the first days of life...
  6. ncbi 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...
  7. ncbi MRI lesions and infants with neonatal encephalopathy. Is the Apgar score predictive?
    E Mercuri
    Department of Paediatrics Imperial College School of Medicine, Hammersmith Campus, London, United Kindom
    Neuropediatrics 33:150-6. 2002
    ....
  8. 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...
  9. 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
    ....
  10. ncbi The development of vision
    Eugenio Mercuri
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 83:795-800. 2007
    ..We will review the main models of visual development and the tests available to assess visual function in infancy, focusing on the recently described battery of tests for assessing early visual abilities in preterm and full term infants...
  11. 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...
  12. ncbi Early diagnostic and prognostic indicators in full term infants with neonatal cerebral infarction: an integrated clinical, neuroradiological and EEG approach
    E Mercuri
    Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, UK
    Minerva Pediatr 53:305-11. 2001
    ..Special attention will be paid to the value of an integrated approach, using clinical, EEG and neuroimaging tools as early diagnostic and prognostic indicators of outcome...
  13. ncbi Neonatal brain MRI and motor outcome at school age in children with neonatal encephalopathy: a review of personal experience
    Eugenio Mercuri
    Department of Paediatrics, Imperial College, Hammersmith Campus, London, United Kingdom
    Neural Plast 10:51-7. 2003
    ..White matter lesions were associated with abnormal motor outcome only if the internal capsule was involved. Children with moderate white matter changes but normal internal capsule had normal motor outcome at school age...
  14. 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...
  15. ncbi 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...
  16. ncbi Neonatal cerebral infarction and visual function at school age
    E Mercuri
    Department of Paediatrics, Hammersmith Campus, Imperial College School of Medicine, London, UK
    Arch Dis Child Fetal Neonatal Ed 88:F487-91. 2003
    ..To assess various aspects of visual function at school age in children with neonatal cerebral infarction...
  17. ncbi A short protocol for muscle MRI in children with muscular dystrophies
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial School of Medicine, Hammersmith Hospital, London, UK
    Eur J Paediatr Neurol 6:305-7. 2002
    ....
  18. ncbi Visual function at school age in children with neonatal encephalopathy and low Apgar scores
    E Mercuri
    Department of Paediatrics, Hammersmith Campus, Imperial College School of Medicine, London, UK
    Arch Dis Child Fetal Neonatal Ed 89:F258-62. 2004
    ..To assess different aspects of visual function at school age in children who suffered from neonatal encephalopathy...
  19. 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...
  20. ncbi Neonatal cerebral infarction and neuromotor outcome at school age
    Eugenio Mercuri
    Department of Paediatrics, Imperial College School of Medicine, Hammersmith Campus, London, United Kingdom
    Pediatrics 113:95-100. 2004
    ..The aim of this study was to assess neuromotor function at school age in children who had cerebral infarction on neonatal magnetic resonance imaging (MRI)...
  21. ncbi Expanding the clinical spectrum of POMT1 phenotype
    A Tessa
    Department of Laboratory Medicine, , Rome, Italy
    Neurology 66:1564-7; discussion 1461. 2006
    ..These patients are similar to LGMD2K but have earlier onset and more severe motor disability. The current findings expand the spectrum of POMT1-associated phenotypes...
  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 Longitudinal assessment of visual development in non-syndromic craniosynostosis: a 1-year pre- and post-surgical study
    G Vasco
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Arch Dis Child 93:932-5. 2008
    ..to investigate visual function pre- and post surgery in children with single-suture non-syndromic craniosynostosis..
  24. 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...
  25. ncbi Reliability of the North Star Ambulatory Assessment in a multicentric setting
    E S Mazzone
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 19:458-61. 2009
    ..95). Our results suggest that the NSAA is a test that can be easily performed, completed in 10 min and can be used in a multicentric setting, providing that adequate training is administered...
  26. 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...
  27. ncbi POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study
    S Messina
    Department of Paediatric Neurology, Catholic University, Policlinico Gemelli, 00168 Rome, Italy
    Neuromuscul Disord 18:565-71. 2008
    ..Our results provide further evidence that, as previously reported for FKRP, the array of mutations in POMT1 and POMT2 is ample and the spectrum of associated phenotypes is wider than initially thought...
  28. 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...
  29. 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...
  30. ncbi POMT2 mutation in a patient with 'MEB-like' phenotype
    E Mercuri
    Eugenio Mercuri Department of Paediatric Neurology, Child Neurology Unit, Catholic University, Rome, Italy
    Neuromuscul Disord 16:446-8. 2006
    ..Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity...
  31. ncbi 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...
  32. ncbi Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
    M Pane
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 22:685-9. 2012
    ..Cardiac or respiratory involvement was found in patients with mutations in FKRP, POMT1, POMT2. All of the patients in whom mutation in POMGnT1 were identified had normal cardiac and respiratory function...
  33. ncbi Neurologic examination in infants with hypoxic-ischemic encephalopathy at age 9 to 14 months: use of optimality scores and correlation with magnetic resonance imaging findings
    L Haataja
    Department of Paediatrics, Hammersmith Hospital, London, United Kingdom
    J Pediatr 138:332-7. 2001
    ..CONCLUSIONS: The use of a standardized neurologic optimality scoring system gives additional prognostic information, easily available in the clinic, on the severity of the functional motor outcome in infants with HIE...
  34. 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...
  35. ncbi Visual function in Noonan and LEOPARD syndrome
    P Alfieri
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Neuropediatrics 39:335-40. 2008
    ..Our results suggest that visual and visuoperceptual abilities are commonly impaired in patients with Noonan and LEOPARD syndrome and they are probably related to a multifactorial etiology...
  36. ncbi Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study
    E Mazzone
    Department of Paediatric Neurology, Catholic University, Rome
    Neurology 77:250-6. 2011
    ....
  37. 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...
  38. ncbi The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study
    F D Tiziano
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Neuromuscul Disord 17:400-3. 2007
    ..Our results showed a relative variability of functional scores, but a significant correlation between the number of SMN2 genes and the level of function...
  39. ncbi Early development of epileptic infants with pre- or perinatal brain injuries: role of the epileptic disorder
    M R Barone
    Department of Child Neurology and Psychiatry, Catholic University, Rome, Italy
    Neuropediatrics 40:218-23. 2009
    ..The predictive value of early visual function seems to be confirmed...
  40. 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...
  41. ncbi Can the Griffiths scales predict neuromotor and perceptual-motor impairment in term infants with neonatal encephalopathy?
    A L Barnett
    Department of Paediatrics, Imperial College School of Medicine, Hammersmith Campus, London, UK
    Arch Dis Child 89:637-43. 2004
    ..To examine the predictive value of early developmental testing for identifying neuromotor and perceptual-motor impairment at school age in children with neonatal encephalopathy (NE)...
  42. ncbi Congenital muscular dystrophies with cognitive impairment. A population study
    S Messina
    Department of Child Neurology, Policlinico Gemelli, Catholic University, Largo Gemelli, Rome, Italy
    Neurology 75:898-903. 2010
    ..Cognitive impairment has been reported in a significant proportion of patients with congenital muscular dystrophies (CMD), generally associated with brain changes...
  43. 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...
  44. ncbi Combined use of electroencephalogram and magnetic resonance imaging in full-term neonates with acute encephalopathy
    E Biagioni
    Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom
    Pediatrics 107:461-8. 2001
    ..When the MRI showed moderate abnormalities, the EEG in all cases but one identified patients with normal and abnormal outcome.EEG, MRI, HIE, neurodevelopment...
  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 Antenatal post-hemorrhagic ventriculomegaly: a prospective follow-up study
    R Luciano
    Neonatology, Catholic University, Rome, Italy
    Neuropediatrics 38:137-42. 2007
    ..6 weeks) with cerebral ventriculomegaly of antenatal onset associated with intraventricular haemorrhage...
  47. 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
    ..These findings suggest that factors other than mobility are likely to have an effect on SMA bone mineral density...
  48. ncbi Sequential neurological examinations in infants with neonatal encephalopathy and low apgar scores: relationship with brain MRI
    D Ricci
    Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Campus, London, United Kingdom
    Neuropediatrics 37:148-53. 2006
    ..CONCLUSIONS: Our results suggest that the evolution of the neurological patterns after the neonatal period in infants with persisting neonatal abnormalities depends on their pattern of brain lesions...
  49. ncbi Neurological examination at 6 to 9 months in infants with cystic periventricular leukomalacia
    D Ricci
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Neuropediatrics 37:247-52. 2006
    ..Our results suggest that the pattern of findings on neurological examination performed between 6 and 9 months as well as the calculated optimality score helps to predict motor impairment in infants with PVL...
  50. ncbi Neurological and perceptual-motor outcome at 5 - 6 years of age in children with neonatal encephalopathy: relationship with neonatal brain MRI
    A Barnett
    Department of Paediatrics, Imperial College School of Medicine, Hammersmith Campus, London, United Kingdom
    Neuropediatrics 33:242-8. 2002
    ..CONCLUSION. Continued surveillance is recommended for children with apparently normal outcome at two years of age after NE, particularly when abnormalities are detected on brain MRI...
  51. 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...
  52. 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...
  53. 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...
  54. ncbi 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...
  55. ncbi 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...
  56. ncbi Auditory attention at the onset of West syndrome: correlation with EEG patterns and visual function
    G Baranello
    Developmental Neuroscience Department, Catholic University, Rome, Italy
    Brain Dev 28:293-9. 2006
    ..A longer follow up and a larger cohort will be useful for a better clarification of these findings...
  57. 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...
  58. ncbi Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
    E Mercuri
    Department of Paediatric Neurology, Catholic University, Largo Gemelli, 00168 Rome, Italy
    Neurology 68:51-5. 2007
    ..To assess the efficacy of phenylbutyrate (PB) in patients with spinal muscular atrophy in a randomized, double-blind, placebo-controlled trial involving 10 Italian centers...
  59. ncbi 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...
  60. ncbi Maturation of cerebral electrical activity and development of cortical folding in young very preterm infants
    E Biagioni
    Department of Paediatrics, Imperial College Hammersmith Hospital, London, UK
    Clin Neurophysiol 118:53-9. 2007
    ..The aim of this study was to examine the relationship between cortical development and cerebral electrical activity at early gestational ages...
  61. ncbi Visual function in infants with non-syndromic craniosynostosis
    D Ricci
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Dev Med Child Neurol 49:574-6. 2007
    ..Follow-up studies after surgical correction are needed to evaluate the possible beneficial effects of reconstructive surgery on visual function...
  62. ncbi 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 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...
  64. ncbi Prothrombotic disorders and abnormal neurodevelopmental outcome in infants with neonatal cerebral infarction
    E Mercuri
    Departments of Paediatrics, Imperial College, Hammersmith Campus, London, United Kingdom
    Pediatrics 107:1400-4. 2001
    ....
  65. ncbi Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency
    F Deodato
    Child Neurology and Psychiatry Unit, Catholic University, Largo A. Gemelli 8, 00168, Rome, Italy
    Neuromuscul Disord 12:392-8. 2002
    ..This case provides new evidence of the phenotypical heterogeneity of the LAMA2 gene and sheds light in understanding the role of laminin alpha 2 chain in myelination of peripheral nerve...
  66. 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...
  67. 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
  68. 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
  69. 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
    ....
  70. 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
    ..This study further highlights the central role that dystroglycan has in neuronal migration...
  71. 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
    ....
  72. 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...
  73. ncbi 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
    ....
  74. ncbi 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...
  75. ncbi Congenital muscular dystrophy
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Hammersmith Hospital, London, England
    Pediatr Ann 34:560-2, 564-8. 2005
  76. ncbi The neurological examination of the newborn baby
    Eugenio Mercuri
    Paediatric Neurology Unit, Catholic University, Rome, Italy Division of Medicine, Imperial College, London, UK
    Early Hum Dev 81:947-56. 2005
    ..We also describe a short but structured proforma to be used for the routine examination of full-term infants. We will finally describe a quantitative assessment to be used in research settings...
  77. ncbi Prognostic value of EEG performed at term age in preterm infants
    Teresa Randò
    Child Neurology and Psychiatry Unit, Department of Paediatrics and Developmental Neuroscience, Catholic University, Rome, Italy
    Childs Nerv Syst 22:263-9. 2006
    ..Electroencephalography (EEG) was performed at term age on 32 infants born prematurely (25-32 weeks). EEG was assessed looking for overall background activity and transients...
  78. ncbi Neurological examination of preterm infants at term equivalent age
    Daniela Ricci
    Department of Paediatrics and Imaging Sciences, Hammersmith Campus, Imperial College, London, UK
    Early Hum Dev 84:751-61. 2008
    ..However, the cohort number was too small to draw any definitive conclusion about the distribution of findings...
  79. ncbi Pilot trial of phenylbutyrate in spinal muscular atrophy
    Eugenio Mercuri
    Department of Child Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 14:130-5. 2004
    ..004). Our results indicate that PB might be beneficial to SMA patients without producing any major side effect. Larger prospective randomised, double-blind, placebo controlled trials are needed to confirm these preliminary findings...
  80. 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
    ....
  81. ncbi Prognostic value of the neurologic optimality score at 9 and 18 months in preterm infants born before 31 weeks' gestation
    Maria Flavia Frisone
    Department of Paediatrics, Imperial College School of Medicine, Hammersmith Campus, London, United Kingdom
    J Pediatr 140:57-60. 2002
    ..CONCLUSION: This examination should be particularly useful in very premature infants who are at high risk of severe neurologic and developmental disabilities and for whom the early prediction of motor function can be difficult...
  82. ncbi 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...
  83. ncbi Assessment of visual function in children with methylmalonic aciduria and homocystinuria
    D Ricci
    Child Neurology and Psychiatry Unit, Catholic University, Rome, Italy
    Neuropediatrics 36:181-5. 2005
    ..Further studies using early and sequential assessment of visual function are needed to establish whether the differences observed between younger and older children may be related to the duration of therapy...
  84. ncbi Congenital muscular dystrophies
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College Faculty of Medicine, Hammersmith Hospital, London, England
    Semin Pediatr Neurol 9:120-31. 2002
    ..Eight CMD forms have been mapped up to now, and the genes responsible for three of them have been identified. This review describes an update of clinical, pathologic, and genetic findings in the different CMD forms...
  85. ncbi Neurodevelopmental evolution of West syndrome: a 2-year prospective study
    Francesco Guzzetta
    Developmental Neuroscience Department, Catholic University, Rome, Italy
    Eur J Paediatr Neurol 12:387-97. 2008
    ..The aim of this study was to evaluate the epileptic and developmental evolution in infants with West syndrome...
  86. ncbi Visual function at 35 and 40 weeks' postmenstrual age in low-risk preterm infants
    Daniela Ricci
    Catholic University, Pediatric Neurology Unit, Largo Gemelli 8, 00168 Rome, Italy
    Pediatrics 122:e1193-8. 2008
    ....
  87. ncbi Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy
    Eugenio Mercuri
    Department of Paediatrics, Dubowitz Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 OHN, UK
    Neuromuscul Disord 15:303-10. 2005
    ..This information is even more important in the patients with a typical Ullrich CMD clinical phenotype but with normal collagen expression of VI in muscle and/or skin...
  88. 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...
  89. ncbi Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Institute of Child Health, London, United Kingdom
    Ann Neurol 67:201-8. 2010
    ..The aim of the study was to evaluate whether the visual analysis of muscle magnetic resonance imaging scans can identify specific patterns of muscle involvement...
  90. ncbi Cortical visual function in preterm infants in the first year
    Daniela Ricci
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    J Pediatr 156:550-5. 2010
    ..To assess visual function in low-risk preterm infants at 3, 5, and 12 months corrected age to determine whether the maturation of visual function in the first year is similar to that reported in term-born infants...
  91. ncbi SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
    Francesco Danilo Tiziano
    Institute of Medical Genetics, Catholic University, Largo Francesco Vito, 1, 00168 Rome, Italy
    Eur J Hum Genet 18:52-8. 2010
    ..Our study shows that SMN2-fl dosage in leukocytes can be considered a reliable biomarker and can provide the rationale for SMN dosage in clinical trials...
  92. ncbi Can clinical signs identify newborns with neuromuscular disorders?
    Isabella Vasta
    Department of Paediatrics, Imperial College, Hammersmith Hospital, London, UK
    J Pediatr 146:73-9. 2005
    ..We also aimed to establish whether clinical signs could help to identify infants with neuromuscular disorders...
  93. ncbi Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade
    Laura Cesarini
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Am J Med Genet A 149:140-6. 2009
    ....
  94. ncbi Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?
    Marion Main
    Department of Physiotherapy, Hammersmith Hospital, London, UK
    Neuromuscul Disord 17:227-30. 2007
    ..This procedure may therefore be considered both in patients with medical contraindication to surgery, and also in patients or families who are not prepared to cope with the stress and discomfort of TA surgery...
  95. ncbi Daily salbutamol in young patients with SMA type II
    Marika Pane
    Department of Paediatric Neurology, Catholic University, Policlinico Gemelli Largo Gemelli, 00168 Rome, Italy
    Neuromuscul Disord 18:536-40. 2008
    ..006). Our results suggest that salbutamol may be beneficial to SMA patients without producing any major side effect. Larger prospective randomized, double-blind, placebo controlled trials are needed to confirm these preliminary findings...
  96. ncbi The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation
    Marion Main
    Department of Physiotherapy, Hammersmith Hospital, Du Cane Road, London W12 OHS, UK
    Eur J Paediatr Neurol 7:155-9. 2003
    ..The analysis of 120 assessments over 2 years from 51 children with type 2 and type 3 SMA also led to a more accurate profile of functional achievements in both type 2 and 3 SMA and to a more detailed sub-classification of type 2 SMA...
  97. ncbi Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function
    Teresa Randò
    Child Neuropsychiatry, Catholic University, Rome, Italy
    Dev Med Child Neurol 47:760-5. 2005
    ..These results support a close link between visual function and cognitive competence in WS and provide additional information to improve the understanding of possible mechanisms underlying cognitive impairment...
  98. ncbi Origin and timing of brain lesions in term infants with neonatal encephalopathy
    Frances Cowan
    Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK
    Lancet 361:736-42. 2003
    ..However, there is no evidence that brain damage occurs before birth. We aimed to test the hypothesis that neonatal encephalopathy, early neonatal seizures, or both result from early antenatal insults...
  99. ncbi Thalamic atrophy in infants with PVL and cerebral visual impairment
    Daniela Ricci
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 82:591-5. 2006
    ..Our results suggest that the atrophy of the thalami may play an additional role in the abnormal development of visual function in infants with PVL and abnormal optic radiations...
  100. ncbi Crossed cerebellar atrophy of prenatal onset
    F Gallini
    Department of Pediatrics, Neonatal Unit, Catholic University, Largo F Vito 1, Rome 00136, Italy
    Childs Nerv Syst 22:734-6. 2006
    ..It was also reported in preterm infants after perinatal or postnatal contralateral supratentorial lesions...
  101. ncbi Swallowing difficulties in Duchenne muscular dystrophy: indications for feeding assessment and outcome of videofluroscopic swallow studies
    A Aloysius
    Speech and Language Therapy, Hammersmith Hospitals NHS Trust, Du Cane Road, London W12 0HS, UK
    Eur J Paediatr Neurol 12:239-45. 2008
    ..This study suggests that VFSS may not be of additional benefit to careful feeding history and observation in DMD with feeding difficulties...