Eugenio Mercuri

Summary

Publications

  1. pmc SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe
    Nathalie Kayadjanian
    TransBioMed solutions LLC, Murray Hill, USA
    Orphanet J Rare Dis 8:44. 2013
  2. pmc Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures
    Alberto Lerario
    Dipartimento di Fisiopatologia Medico Chirurgica e dei Trapianti, Centro Dino Ferrari, IRCCS Istituto Auxologico Italiano, Universita di Milano, Fondazione, Ospedale Maggiore Policlinico di Milano, Italy
    BMC Neurol 12:91. 2012
  3. doi request reprint 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
  4. 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
  5. doi request reprint 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
  6. doi request reprint 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
  7. doi request reprint Neuropsychological development in children with Dravet syndrome
    Daniela Chieffo
    Child Neurology and Psychiatry, Catholic University, Rome, Italy
    Epilepsy Res 95:86-93. 2011
  8. doi request reprint 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
  9. doi request reprint 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
  10. doi request reprint Visual and visuoperceptual function in children with Panayiotopoulos syndrome
    Paola de Rose
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Epilepsia 51:1205-11. 2010

Collaborators

Detail Information

Publications58

  1. pmc SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe
    Nathalie Kayadjanian
    TransBioMed solutions LLC, Murray Hill, USA
    Orphanet J Rare Dis 8:44. 2013
    ....
  2. pmc Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures
    Alberto Lerario
    Dipartimento di Fisiopatologia Medico Chirurgica e dei Trapianti, Centro Dino Ferrari, IRCCS Istituto Auxologico Italiano, Universita di Milano, Fondazione, Ospedale Maggiore Policlinico di Milano, Italy
    BMC Neurol 12:91. 2012
    ..This study is to date the most thorough long-term evaluation of QMT in a cohort of DMD patients correlated with other measures, such as the North Star Ambulatory Assessment (NSAA) or three 6-min walk test (6MWT)...
  3. doi request reprint 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...
  4. 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...
  5. doi request reprint 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...
  6. doi request reprint 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...
  7. doi request reprint 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...
  8. doi request reprint 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
    ....
  9. doi request reprint 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...
  10. doi request reprint Visual and visuoperceptual function in children with Panayiotopoulos syndrome
    Paola de Rose
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Epilepsia 51:1205-11. 2010
    ....
  11. doi request reprint 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...
  12. doi request reprint 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...
  13. doi request reprint 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...
  14. doi request reprint 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...
  15. doi request reprint 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...
  16. doi request reprint 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
    ....
  17. doi request reprint 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...
  18. doi request reprint 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...
  19. doi request reprint 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. ..
  20. doi request reprint Early neurodevelopmental assessment in Duchenne muscular dystrophy
    Marika Pane
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 23:451-5. 2013
    ....
  21. doi request reprint 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
    ..2014 Wiley Periodicals, Inc. ..
  22. doi request reprint 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...
  23. 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...
  24. doi request reprint 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...
  25. 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
    ....
  26. ncbi request reprint 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...
  27. doi request reprint 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...
  28. doi request reprint 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...
  29. doi request reprint 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
    ....
  30. doi request reprint 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
    ....
  31. doi request reprint 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
    ....
  32. doi request reprint 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...
  33. doi request reprint 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...
  34. ncbi request reprint 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...
  35. doi request reprint 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...
  36. doi request reprint 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...
  37. doi request reprint 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...
  38. ncbi request reprint 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...
  39. doi request reprint 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...
  40. ncbi request reprint 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...
  41. doi request reprint 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
    ....
  42. ncbi request reprint 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...
  43. doi request reprint 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...
  44. doi request reprint 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...
  45. doi request reprint 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...
  46. doi request reprint 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...
  47. doi request reprint 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
    ....
  48. pmc Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation
    Domenica Battaglia
    Child Neurology Unit, Department of Pediatrics, Sacro Cuore Catholic University, Rome, Italy
    Pediatr Diabetes 13:656-60. 2012
    ..KCNJ11 should be considered as the etiology of diabetes even beyond the neonatal period if present in combination with negative autoantibody testing and even mild neurological symptoms...
  49. doi request reprint 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...
  50. 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...
  51. ncbi request reprint 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
    ....
  52. pmc Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort
    Michela Catteruccia
    Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy
    Neuromuscul Disord 23:229-38. 2013
    ..The detection of three novel DNM2 mutations and the first case of somatic mosaicism further expand the genetic spectrum of the disease...
  53. doi request reprint 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...
  54. ncbi request reprint 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...
  55. ncbi request reprint 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...
  56. 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...
  57. doi request reprint 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...
  58. ncbi request reprint 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...