Eugenio Mercuri

Summary

Affiliation: Catholic University
Country: Italy

Publications

  1. 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
  2. ncbi Application of a scorable neurologic examination in healthy term infants aged 3 to 8 months
    Leena Haataja
    J Pediatr 143:546. 2003
  3. 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
  4. ncbi Application of a neonatal assessment of visual function in a population of low risk full-term newborn
    Daniela Ricci
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 84:277-80. 2008
  5. doi Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity
    Paolo Alfieri
    Child Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesu, Children s Hospital, Rome, Italy
    Am J Med Genet A 155:2459-64. 2011
  6. pmc 6 minute walk test in duchenne MD patients with different mutations: 12 month changes
    Marika Pane
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    PLoS ONE 9:e83400. 2014
  7. pmc Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions
    Alessandro Ferraris
    Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy
    Orphanet J Rare Dis 8:75. 2013
  8. pmc 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
  9. pmc Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
    Simona Brioschi
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:73. 2012
  10. doi The ever-expanding spectrum of congenital muscular dystrophies
    Eugenio Mercuri
    Pediatric Neurology, Catholic University, Rome, Italy
    Ann Neurol 72:9-17. 2012

Detail Information

Publications103 found, 100 shown here

  1. 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...
  2. ncbi Application of a scorable neurologic examination in healthy term infants aged 3 to 8 months
    Leena Haataja
    J Pediatr 143:546. 2003
  3. 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...
  4. ncbi Application of a neonatal assessment of visual function in a population of low risk full-term newborn
    Daniela Ricci
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 84:277-80. 2008
    ..We have previously developed and described a battery of 9 items suitable for assessing different clinical aspects of visual function in newborn infants...
  5. doi Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity
    Paolo Alfieri
    Child Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesu, Children s Hospital, Rome, Italy
    Am J Med Genet A 155:2459-64. 2011
    ....
  6. pmc 6 minute walk test in duchenne MD patients with different mutations: 12 month changes
    Marika Pane
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    PLoS ONE 9:e83400. 2014
    ..The aim of this observational study was to establish whether patients with distinct groups of mutations have different profiles of changes on the 6 minute walk test (6MWT) over a 12 month period...
  7. pmc Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions
    Alessandro Ferraris
    Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy
    Orphanet J Rare Dis 8:75. 2013
    ..The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM...
  8. pmc 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...
  9. pmc Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
    Simona Brioschi
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:73. 2012
    ..Though preferential inactivation of the normal X chromosome has long been considered the principal mechanism behind disease manifestation in these females, supporting evidence is controversial...
  10. doi The ever-expanding spectrum of congenital muscular dystrophies
    Eugenio Mercuri
    Pediatric Neurology, Catholic University, Rome, Italy
    Ann Neurol 72:9-17. 2012
    ..The aim of this review is to discuss the most recent advances in this field, providing a conceptual framework to help the understanding of the responsible mechanisms and, when available, an update on the therapeutic perspectives...
  11. doi Neurological and visual assessments in very and late low-risk preterm infants
    Eugenio Mercuri
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 88:S31-3. 2012
    ..We report the findings in the three cohorts, evaluating the influence of gestational age and extrauterine exposure on both neurological and visual developments...
  12. pmc Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
    Matteo Bovolenta
    Department of Experimental and Diagnostic Medicine Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 11:44. 2010
    ....
  13. doi Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study
    E Mercuri
    Department of Child Neurology, Policlinico Gemelli, Largo Gemelli, 00168 Rome, Italy
    Neurology 72:1802-9. 2009
    ..Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative glycosyltransferases...
  14. 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...
  15. doi Current methodological issues in the study of children with inherited neuromuscular disorders
    Eugenio Mercuri
    Department of Child Neurology, Catholic University, Policlinico Gemelli, Rome, Italy
    Dev Med Child Neurol 50:417-21. 2008
    ..The state of the art of outcome measures in neuromuscular disorders will be discussed, and suggestions for future clinical trials are presented...
  16. 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...
  17. 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
    ....
  18. 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...
  19. doi Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation
    Marika Pane
    Department of Pediatrics, Child Neurology and Psychiatry, Catholic University, Rome, Italy
    J Pediatr 161:705-9.e1. 2012
    ..To assess attention deficit hyperactivity disorder (ADHD) in boys affected by Duchenne muscular dystrophy (DMD) and to explore the relationship with cognitive abilities and genetic findings...
  20. doi Neuropsychological development in children with Dravet syndrome
    Daniela Chieffo
    Child Neurology and Psychiatry, Catholic University, Rome, Italy
    Epilepsy Res 95:86-93. 2011
    ..Aim of this study is to report a detailed profile of neuropsychological development in children with Dravet syndrome...
  21. 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...
  22. doi Cognitive decline in Dravet syndrome: is there a cerebellar role?
    Domenica Battaglia
    Child Neurology and Psychiatry, Catholic University, Rome, Italy
    Epilepsy Res 106:211-21. 2013
    ..The aim of the study was to perform a detailed assessment of cognitive abilities and behaviour in a series of epileptic patients with Dravet syndrome (DS) in order to establish a possible cerebellar-like pattern...
  23. 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
    ....
  24. 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
    ....
  25. 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...
  26. doi Visual and visuoperceptual function in children with Panayiotopoulos syndrome
    Paola de Rose
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Epilepsia 51:1205-11. 2010
    ....
  27. doi Feeding problems and malnutrition in spinal muscular atrophy type II
    Sonia Messina
    Department of Child Neurology, Policlinico Gemelli, Largo Gemelli, Rome, Italy
    Neuromuscul Disord 18:389-93. 2008
    ..Our findings raise a few issues concerning standards of care that should be implemented in the monitoring and management of feeding difficulties and weight gain...
  28. doi 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...
  29. 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...
  30. doi Development of clinical signs in low risk term born infants with neonatal hyperexcitability
    Daniela Leone
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 89:65-8. 2013
    ..Several studies have reported on neonatal tremors or "jitteriness" or, as described by Precthl "hyperexcitability syndrome" including tremors and increased resistance to passive movement...
  31. ncbi Longitudinal cognitive assessment in healthy late preterm infants
    Domenico M Romeo
    Paediatric Neurology Unit, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
    Eur J Paediatr Neurol 16:243-7. 2012
    ..Longitudinal cognitive development in late preterm (LP) infants has not been previously evaluated, using structured assessments...
  32. doi Neurological examination of late-preterm infants at term age
    Domenico M Romeo
    Department of Pediatrics, Child Neurology and Psychiatry, Catholic University, Rome, Italy
    Eur J Paediatr Neurol 15:353-60. 2011
    ..Late-preterm infants represent 70% of the whole preterm population...
  33. doi Early assessment of visual function in preterm infants: how early is early?
    Daniela Ricci
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 86:29-33. 2010
    ..Several studies reported on various aspects of visual function at term age and in the first months after birth but less has been reported in preterm infants before they reach termequivalent age...
  34. 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...
  35. doi Neurologic assessment tool for screening preterm infants at term age
    Domenico M Romeo
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    J Pediatr 161:1166-8. 2012
    ..The findings identified as "warning signs" in preterm infants were identical to those found in full-term infants, suggesting that this screening tool can also be used in preterm infants at term age...
  36. ncbi Visual function assessment in late-preterm newborns
    Domenico M Romeo
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 88:301-5. 2012
    ..To describe the development of visual functions in a population of low-risk late preterm infants...
  37. 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...
  38. doi The forward parachute reaction and independent walking in infants with brain lesions
    Domenico M Romeo
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Dev Med Child Neurol 53:636-40. 2011
    ..The aim of this study was to assess the onset of forward parachute reaction (FPR) in infants with brain lesions and its correlation with age of walking...
  39. doi Early visual assessment in preterm infants with and without brain lesions: correlation with visual and neurodevelopmental outcome at 12 months
    Daniela Ricci
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 87:177-82. 2011
    ....
  40. ncbi Prognostic value of the qualitative assessments of general movements in late-preterm infants
    Claudia Brogna
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 89:1063-6. 2013
    ..The quality of general movements (GMs) and its predictive value have never been evaluated in late-preterm (LP) infants...
  41. doi Perceptual-motor abilities in pre-school preterm children
    Paola de Rose
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Early Hum Dev 89:809-14. 2013
    ..The new version of the Movement Assessment Battery for Children allows the assessment of perceptual-motor abilities in children from the age of 3years...
  42. doi Application of the sleep disturbance scale for children (SDSC) in preschool age
    Domenico M Romeo
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Eur J Paediatr Neurol 17:374-82. 2013
    ..The Sleep Disturbance Scale for Children (SDSC) was originally validated on a sample of healthy children aged 6-16 years, investigating the occurrence of sleep disorders during the previous 6 months...
  43. 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...
  44. ncbi Congenital muscular dystrophy
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Hammersmith Hospital, London, England
    Pediatr Ann 34:560-2, 564-8. 2005
  45. 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...
  46. pmc 24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy
    Elena Stacy Mazzone
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    PLoS ONE 8:e52512. 2013
    ....
  47. doi North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy
    Elena Mazzone
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 20:712-6. 2010
    ..These findings suggest that a combination of these outcome measures can be effectively used in ambulant DMD boys and will provide information on different aspects of motor function, that may not be captured using a single measure...
  48. ncbi Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy
    Marika Pane
    Child Neurology and Psychiatry Unit, Rome, Italy
    Neuromuscul Disord 24:201-6. 2014
    ..Our data suggest that the assessment can be reliably used in both ambulant and non ambulant Duchenne patients in a multicentric setting and could therefore be considered as an outcome measure for future trials. ..
  49. doi Behavioral profile in RASopathies
    Paolo Alfieri
    Dipartimento di Neuroscienze, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Am J Med Genet A 164:934-42. 2014
    ..Our findings indicate that mutations promoting dysregulation of the RAS-MAPK cascade mark an increased psychopathological risk and highlight that autistic-like behavior could be underdiagnosed in patients with RASopathies...
  50. doi Early neurodevelopmental assessment in Duchenne muscular dystrophy
    Marika Pane
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 23:451-5. 2013
    ....
  51. doi Neonatal neurological examination of late preterm babies
    Domenico M Romeo
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 89:537-45. 2013
    ..Healthy late-preterm (LP) infants examined at term equivalent age showed wider median and range of neurological scores than full-term infants; differences between infants born at 34 and those born at 35-36 weeks were also observed...
  52. doi DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
    Rita Barone
    Pediatric Neurology, Department of Pediatrics, University of Catania, Catania, Italy
    Ann Neurol 72:550-8. 2012
    ..There was clinical evidence of a muscular dystrophy-dystroglycanopathy syndrome, supported by deficient O-mannosylation by muscle immunohistochemistry...
  53. pmc 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...
  54. 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...
  55. doi Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade
    Paolo Alfieri
    Department of Neuroscience, Bambino Gesu Children s Hospital, Rome, Italy
    Behav Genet 41:423-9. 2011
    ..Our data suggest that dysregulation of the RAS-MAPK cascade may be associated with a pattern of reduced verbal recall memory performance but relative sparing of visual and spatial recognition memory...
  56. pmc Visual development in infants with prenatal post-haemorrhagic ventricular dilatation
    Daniela Ricci
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Arch Dis Child Fetal Neonatal Ed 92:F255-8. 2007
    ..The aim of this study was to assess visual function in 13 infants with evidence of prenatal post haemorrhagic ventricular dilatation...
  57. doi Early development in Dravet syndrome; visual function impairment precedes cognitive decline
    Daniela Chieffo
    Catholic University, Child Neurology and Psychiatry, Rome, Italy
    Epilepsy Res 93:73-9. 2011
    ....
  58. 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...
  59. doi A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy
    Elena S Mazzone
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Dev Med Child Neurol 54:879-85. 2012
    ..Each scale provides useful information but none reflects all the different levels of functional ability in activities of daily living observed in individuals with DMD at different ages...
  60. 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...
  61. doi Assessing upper limb function in nonambulant SMA patients: development of a new module
    Elena Mazzone
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 21:406-12. 2011
    ..75, but the upper limb function did not always strictly follow the overall gross motor function. These findings suggest that even some of the very weak nonambulant children possess upper limb skills that can be measured...
  62. ncbi Feeding problems and weight gain in Duchenne muscular dystrophy
    Marika Pane
    Department of Child Neurology, Policlinico Gemelli, Largo Gemelli 00168, Roma, Italy
    Eur J Paediatr Neurol 10:231-6. 2006
    ..Further studies using an objective evaluation such as videofluoroscopy are needed to identify minor signs that may not be obvious on clinical examination...
  63. ncbi Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
    Christina Brahe
    Istituto di Genetica Medica, Universita Cattolica S Cuore, Largo F Vito, 1, 00168 Rome, Italy
    Eur J Hum Genet 13:256-9. 2005
    ..This finding provides a strong rationale to further investigate the effects of PB as also supported by preliminary clinical data...
  64. ncbi Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease
    Cheryl Longman
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Campus, London, England
    Arch Neurol 61:1301-6. 2004
    ..Previous reports of brain abnormalities on magnetic resonance images (MRIs) in MEB have been in children older than 1 year...
  65. ncbi Visual, motor and perceptual abilities at school age in children with isolated mild antenatal ventricular dilatation
    Francesca Colitto
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 85:197-200. 2009
    ..A few studies have investigated possible neurodevelopmental sequelae in the first years after birth but no systematic assessment has been performed at school age...
  66. doi Sleep disorders in children with cerebral palsy: neurodevelopmental and behavioral correlates
    Domenico M Romeo
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Sleep Med 15:213-8. 2014
    ....
  67. ncbi Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Policlinico A Gemelli, Rome, Italy
    Nat Genet 44:636-8. 2012
    ..31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1...
  68. 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)...
  69. doi External hydrocephalus in discordant birth weight twins: a case report
    Francesca Gallini
    Division of Neonatology, Department of Pediatrics, Catholic University of the Sacred Heart, Rome, Italy
    J Matern Fetal Neonatal Med 24:337-40. 2011
    ..Our findings suggest that EH may be part of neurologic morbidity in discordant birth weight twins and represents one of the potential complications to look for in the follow-up of these infants...
  70. doi 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
    ....
  71. 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...
  72. 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...
  73. ncbi Early assessment of visual function in full term newborns
    Daniela Ricci
    Paediatric Neurology Unit, Catholic University, Rome, Italy
    Early Hum Dev 84:107-13. 2008
    ..The assessment of visual function is part of all the neonatal neurological examination but it is often limited to the evaluation of ocular movements and the ability to fix and follow a target...
  74. ncbi Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression
    Mario Pescatori
    Institute of Neurology, Catholic University, L go A Gemelli 8, 0018, Rome, Italy
    FASEB J 21:1210-26. 2007
    ....
  75. 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
    ....
  76. ncbi Visual function in nonsyndromic craniosynostosis: past, present, and future
    Giovanni Baranello
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Childs Nerv Syst 23:1461-5. 2007
    ..More recently, some studies also included the assessment of more functional and electrophysiological aspects of vision, such as acuity and visual evoked potentials...
  77. ncbi Visual function in infants with West syndrome: correlation with EEG patterns
    Teresa Randò
    Division of Child Neurology and Psychiatry, Catholic University, Rome, Italy
    Epilepsia 45:781-6. 2004
    ..The aim of the study was to assess visual function at the onset of spasm and 2 months thereafter and relate visual findings to brain lesions and EEG features...
  78. ncbi Childhood spinal muscular atrophy: controversies and challenges
    Eugenio Mercuri
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Lancet Neurol 11:443-52. 2012
    ..The need to be prepared for clinical trials has been the impetus for a remarkable and unprecedented cooperation between clinicians, scientists, industry, government, and volunteer organisations on an international scale...
  79. 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...
  80. doi Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report
    Adele d'Amico
    Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu Hospital, Rome, Italy
    Neuromuscul Disord 22:546-8. 2012
    ....
  81. 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
    ....
  82. 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...
  83. ncbi Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design
    Francesco Danilo Tiziano
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Largo Francesco Vito, 1 00168 Roma, Italy
    J Med Genet 47:856-8. 2010
    ..Recently, evidence has been provided that SMN2 expression can be enhanced in vitro by salbutamol, a β2-adrenergic agonist. This compound has also been shown to improve motor function of SMA patients in two different pilot trials...
  84. pmc Spinal muscular atrophy
    Adele d'Amico
    Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Gesu Children s Research Hospital, P za S Onofrio, 4, Rome 00165, Italy
    Orphanet J Rare Dis 6:71. 2011
    ..Prognosis depends on the phenotypic severity going from high mortality within the first year for SMA type 1 to no mortality for the chronic and later onset forms...
  85. pmc The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
    Alessandra Terracciano
    Unit of Neuromuscular and Neurodegenerative Disorders, Lab of Molecular Medicine, Dept of Neuroscience, Bambino Gesù Childrens Hospital, Rome, Italy
    Eur J Paediatr Neurol 16:248-56. 2012
    ..We think that muscle biopsy is a valuable procedure to improve diagnostic assesement in children with congenital ataxia or other undefined forms of later onset childhood ataxia associated to cerebellar atrophy at MRI...
  86. ncbi Magnetic resonance image correlates of hemiparesis after neonatal and childhood middle cerebral artery stroke
    James P Boardman
    Robert Steiner MR Unit, Imaging Sciences Department, MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom
    Pediatrics 115:321-6. 2005
    ....
  87. doi Auditory processing in infancy: do early abnormalities predict disorders of language and cognitive development?
    Francesco Guzzetta
    Unit of Child Neurology and Psychiatry, Catholic University, Rome, Italy
    Dev Med Child Neurol 53:1085-90. 2011
    ..Behavioural tests are few and are greatly needed in young infants as they could provide a more easily used tool for detecting the preconditions of early cerebral auditory impairment...
  88. 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
    ..The aim of the study was to establish the frequency distribution of the optimality scores in this cohort and to establish whether the scores can predict locomotor function at 2 years of age...
  89. pmc 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...
  90. doi 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
    ....
  91. ncbi Delayed visual maturation in Karen refugee infants
    Rose McGready
    Shoklo Malaria Research Unit, Mae Sot and Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand
    Ann Trop Paediatr 23:193-204. 2003
    ..DVM might be caused by nutritional deficiency or toxic effects during critical periods of gestation that lead to delayed cortical myelination or structural defects which impinge on parietal cortex function...
  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 outcome at early school age in term-born children with perinatally acquired middle cerebral artery territory infarction
    Daniela Ricci
    Department of Paediatrics, Imperial College, Hammersmith Hospital, Du Cane Rd, London W12 OHS, UK
    Stroke 39:403-10. 2008
    ....
  94. 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...
  95. 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...
  96. ncbi Motor coordination in children with congenital strabismus: effects of late surgery
    Roberto Caputo
    Department of Ophthalmology, A Meyer Children s Hospital, Florence, Italy
    Eur J Paediatr Neurol 11:285-91. 2007
    ....
  97. 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
    ....
  98. 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...
  99. ncbi Fracture prevalence in Duchenne muscular dystrophy
    Denise G M McDonald
    Oxford Radcliffe NHS Trust, UK
    Dev Med Child Neurol 44:695-8. 2002
    ..Twenty percent of ambulant males and 27% of those using orthoses lost mobility permanently as a result of the fracture. In a substantial proportion of males, the occurrence of a fracture had a significant impact on subsequent mobility...
  100. ncbi A new approach for neurological evaluation of infants in resource-poor settings
    Leena Haataja
    Department of Paediatrics, Imperial College, Hammersmith Hospital, London, UK
    Ann Trop Paediatr 22:355-68. 2002
    ..The Griffiths Developmental Scales were applied in the same infants and both the Shoklo Neurological and the Shoklo Developmental Tests showed good correlation with this standardised neurodevelopmental assessment...
  101. 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...