personal information eugenio mercuri - ema.europa.eu · curriculum vitae eugenio mercuri 11....

Curriculum vitae

PERSONAL INFORMATION Eugenio Mercuri

WORK EXPERIENCE

March 2002–Present Professor of Pediatric NeurologyCatholic University (Italy)

Neonatal neurology, neuromuscular disorders, neurology

June 1993–March 2002 Lecturer/Senior lecturerHammersmith Hospital/Imperial college (United Kingdom)

EDUCATION AND TRAINING

November 1981–July 1987 degree in medicineUniversity of Messina (Italy)

Mediicine and Surgery

November 1987–October 1991 Specialist in pediatric Neurology and Child Psychiatry university of Messina (Italy)

November 1991–October 1995 PhD in developmental NeurosciencesCatholic University, Rome/ University of Messina

ADDITIONAL INFORMATION

Expertise neuromuscular disorders, neonatal neurology

Publications 1. Guzzetta F, Mercuri E,Bonanno S, Longo M, Spanò M. Autosomal recessive congenital cerebellar atrophy. A clinical and neuropsychological study. Brain & Development 1993; 15:439-45.

2. Tortorella G, Magaudda A, Mercuri E, Longo M, Guzzetta F. Familial unilateral and bilateral occipital calcifications and epilepsy. Neuropediatrics, 1993; 24:341-2.

3. Mercuri E, von Siebenthal K, Daniels H, Guzzetta F, Casaer P. Multimodality evoked responses in the neurological assessment of the newborn. European Journal of Pediatrics, 1994; (153),:622-631.

4. Wertheim D, Mercuri E, Faundez JC, Rutherford M, Acolet D, Dubowitz L. Prognostic value of continuous EEG recording in full term infants with HIE Archives Disease Child. 1994 ;71: F97-F102

5. Mercuri E, Faundez JC, Cowan F, Dubowitz L. Acetazolamide without frusemide in posthemorragic hydrocephalus. Acta Paediatrica 1994;83 :1319-1321

6. Mercuri E, Faundez JC, Roberts I, Bouza H, Cowan F, Pennock J, Bydder G, Dubowitz L. Neurological soft signs may identify children with SCD who are at risk for stroke. European Journal Pediatrics 1995 ;154:150-156

7. Mercuri E, Muntoni F, Berardinelli A, Pennock J, Sewry C, Dubowitz V. Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status . Neuropediatrics 1995; 1: 3-7

8. Guzzetta F, Mercuri E, Spanò M. Mechanisms and evolution of the brain damage in neonatal post- hemorrhagic hydrocephalus.Child Nervous System 1995;11:293-296.

9. Mercuri E, Dubowitz L, Berardinelli A, Jongmans M, Henderson S, Muntoni F, Pennock J, Philpot J, Dubowitz V. Minor neurological and perceptuo-motor deficits in children with CMD: correlation with brain MRI changes. Neuropediatrics 1995; 26:156-162.

10. Mercuri E,von Siebenthal K, Tutuncuoglu S, Guzzetta F, Casaer P. The effect of behavioural stateson Visual Evoked Responses in preterm and fullterm newborns Neuropediatrics 1995;26:211-213.

7/7/18 © European Union, 2002-2018 | http://europass.cedefop.europa.eu / 23

Curriculum vitae Eugenio Mercuri

11. Mercuri E, Cowan F, Rutherford M, Pennock J, Dubowitz L. Ischaemic and haemorrhagic brain lesions in newborns with seizures and normal Apgar score. Archives of Disease in Childhood, 1995;73: F67-F74

12. Dubowitz L, Cowan F, Rutherford M, Mercuri E, Pennock J.Neonatal neurology: a window of the brain. Past, present and future. Brain Development, 1995; 17:22-30

13. Mercuri E, Spano’ M, Bruccini G, Frisone MF, Trombetta J, , Longo M, Guzzetta F. Visual outcome in children with congenital hemiplegia: correlation with MRI findings. Neuropediatrics, 1996; 27: 1-5.

14. Jongmans M, Mercuri E, Henderson S, de Vries L, Sonksen P, Dubowitz L. Visual function of prematurely born children with and without perceptual-motor difficulties. Early Human Development, 1996; 45:73-82

15. Mercuri E, Atkinson J, Braddick O, Cowan F, Rutherford M, Pennock J, Dubowitz L. Visual function in congenital cerebral infarction. Archives of Disease in Childhood, 1996;75:F76-F81

16. Mercuri E, Pennock J, Goodwin F, Cowan F, Sewry C, Dubowitz V, Muntoni F. Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient CMD. Neuromuscular disorders,1996;6: 425-429.

17. Mercuri E, Jongmans M, Henderson S, Y Lee, J Pennock, L de Vries, Dubowitz L. Evaluation of the corpus callosum in clumsy children born prematurely: A functional and morphological study. Neuropediatrics, 1996;27:317-322

18. Jongmans M, Mercuri E, Henderson S, de Vries L, Dubowitz L. Minor neurological signs and perceptual-motor difficulties in prematurely born children. Archives of Disease in Childhood, 1997; 76: F9-F14

19. Mercuri E, Hu Y, Donati W, Dubowitz L, Cowan F, Bydder G. Cerebellar infarction and atrophy in children with history of preterm birth. Pediatric Radiology , 1997; 27: 139-143.

20. Mercuri E, Atkinson J., Braddick O., Anker S., Cowan F, Rutherford M, Pennock J, Dubowitz L. The aetiology of delayed visual maturation: short review and personal findings. European Journal of Paediatric Neurology, 1997; 1: 31-34.

21. Mercuri E, Atkinson J., Braddick O., Anker S., Cowan F, Rutherford M, Pennock J, Dubowitz L. Basal ganglia damage and impaired visual function in the newborn infant. Archives of Disease in Childhood, 1997; 77: F111-F114.

22. Mercuri E, Atkinson J., Braddick O., Anker S., Cowan F, Rutherford M, Pennock J, Dubowitz L. Visual function in full term infants with hypoxic-ischaemic encephalopathy. Neuropediatrics, 1997; 28:155-161.

23. Mercuri E, Atkinson J., Braddick O., Cowan F, Rutherford M, Counsell S, Dubowitz L. Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study. European Journal of Paediatric Neurology, 1997; 5-6: 31-34.

24. Mercuri E, Philpot J, Anker S, Sewry C, Dubowitz V, Muntoni F. Visual function in children with merosin-deficient and merosin-positive CMD. Pediatric Neurology, 1998; 18:399-401.

25. Jongmans M, Mercuri E, Dubowitz L,Henderson S. Perceptual-motor difficulties and their concomitants in six year old children born prematurely. Human Movement Science, 1998, 32: 297-308.

26. Rutherford M, Pennock J, Counsell S, Mercuri E, Cowan F, Dubowitz L, Edwards D. Abnormal magnetic resonance signal in the internal capsule predicts poor neurodevelopmental outcome in infants with hypoxic-ischaemic encephalopathy. Pediatrics, 1998;102: 323-328

27. Dubowitz L, Mercuri E, Dubowitz V. An optimality score for the neurological examination of the full-term newborn. Journal of Pediatrics, 1998;133: 406-416.

28. Mercuri E, Braddick O., Atkinson J., Cowan F, Anker S, Andrew R., Wattam-Bell J, Rutherford M, Counsell S, Dubowitz L. Orientation reversal and phase-reversal visual evoked potentials in full term infants with brain lesions: a longitudinal study. Neuropediatrics, 1998;29:169-174.

29. Mercuri E, Dubowitz L, Cowan F, Paterson-Brown S. Incidence of cranial ultrasound abnormalitieswell neonates on a post natal ward: correlation with antenatal/perinatal factors and neurological status.Archives of Disease in Childhood, 1998: F185-189.

30. Mercuri E, Rutherford M, Cowan F, Pennock J, Counsell S, Papadimitriou M, Azzopardi D, BydderG, Dubowitz L. Early prognostic indicators of outcome in infants with neonatal cerebral infarction: a clinical, EEG and MRI study. Pediatrics, 1999;103:31-38

31. Spano’ M, Mercuri E, Rando’ T, Panto’ T, Gagliano G, Henderson S, Guzzetta F. Motor and perceptual- motor competence in children with Down syndrome: variation in performance with age. European Journal Paediatric Neurology, 1999; 3:7-14.



32. Mercuri E, Haataja L, Guzzetta A, Atkinson J., Cowan F, Anker S, R. Andrew, Braddick O., Rutherford M, Counsell S, Dubowitz L. Visual function in term infants with hypoxic-ischaemic insults : correlation with neuroldevelopmen . at 2 years of age. Archives of Disease in Childhood, 1999; 80: F99-F104.

33. Mercuri E, Jongmans M, Bouza H, Haataja L, Rutherford M, Henderson S, Dubowitz L. Congenital hemiplegia in children at school age: assessment of hand function in the non hemiplegic hand and correlation with MRI. Neuropediatrics, 1999; 30: 8-13.

34. Mercuri E, Dubowitz L. The neurological examination of the newborn. Current Pediatrics, 1999; 9: 42-50

35. Forssberg H, Eliasson AC, Redon-Zouiteni C, Mercuri E and Dubowitz L. Impaired grip-lift synergyin children with unilateral brain lesions. Brain 1999; 122:1157-1168

36. Mercuri E, Guzzetta A , Haataja L, Cowan F, Rutherford M, Counsell S, Papadimitriou M, Cioni G, Dubowitz L. Neonatal neurological examination in infants with hypoxic ischaemic encephalopathy: correlation with MRI findings. Neuropediatrics, 1999; 30: 83-89.

37. Haataja L, Mercuri E, Regev R, Cowan F, Rutherford M, Dubowitz V, Dubowitz L. Optimality score for the neurological examination of the infant at 12 and 18 months of age. Journal of Pediatrics, 1999;135:153-161

38. Mercuri E, Andrew J, Philpot J, Sewry C, Counsell S, Henderson S, Dubowitz V Muntoni F. Cognitive abilities in children with CMD: correlation with brain MRI and merosin status.Neuromuscular disorders. 1999; 9: 383-7

39. Gnecchi-Ruscone T, Taylor J, Mercuri E, Paternostro G, Bushby K, Dubowitz V, Muntoni F, Camici P. Cardiompathy in Duchenne, Becker, and sarcoglycanopathies: in a role for coronary dysfunction ?,. Muscle Nerve 1999; 22:1549-1556

40. Mercuri E, Poulton J, Buck J, Broadbent V, Bamford M, Jungbluth H, Manzur AY, Muntoni F Vincristine treatment revealing asymptomatic Hereditary Motor Sensory Neuropathy type 1. Arch Dis Child 1999; 81: 442-443.

41. Mercuri E, Cowan F Cerebral infarction in the newborn infant: Review of the literature and personal experie. Eur J Paediatr Neurol 1999; 3: 255-264.

42. Haataja L, Mercuri E, Cowan F, Dubowitz L. Cranial ultrasound abnormalities in full-term infants in a postnatal ward:outcome at 12 and 18 months. Arch Dis Child 2000; 82: F128-133.

43. Bertuccelli B, Cioni G, Fazzi B, Guzzetta A, Mercuri E. Correlation between visual function, neurodevelopmental outcome and MRI findings in infants with periventricular leukomalacia. Arch Dis Child 2000; 82: F134-140.

44. Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, Schwartz K, Muntoni F. Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2), Neurology 2000;54:1704-1705.

45. Mercuri E. Goodwin F, Sewry C, Dubowitz V,. Muntoni F. Diaphragmatic spinal muscular atrophy with bulbar weakness, Eur J Paediatr Neurol 2000; 4: 69-72.

46. Jungbluth H, Rees MI, Manzur A, Mercuri E, Sewry CA , Muntoni F. An unusual case of hyperekplexia. Eur J Paediatr Neurol 2000; 4: 77-80.

47. Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, Rowe P, Johnson MA, Hughes I, Kelsey A, Dubowitz V, Muntoni F. Minicore myopathy in children: a clinical and histopathological study of 19 cases. Neuromuscul Disord. 2000;10:264-73.

48. Mercuri E, Ricci D, Cowan F, Lessing D, Haataja L, Counsell S, Dubowitz L. Rutherford M. Head growth in infants with hypoxic-ischemic encephalopathy: correlation with neonatal MRI. Pediatrics, 2000;106:235-243

49. Bonne G, Mercuri E , Muchir A,. Urtiziberea A, Bécane H. M, Merlini L, Wehnert M, Boor R, Reuner U,. Vorgerd M, Wicklein EM,. Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM,. Ferrer X,.Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D , Fardeau M, Schwartz K,. Muntoni F. Clinical and molecular genetic spectrum of autosomal dominant Emery Dreifuss muscular dystrophy due to mutations of the lamin a/c gene. Annals of Neurology, 2000;48:170-80

50. Fox AM, Mercuri E, Rutherford M, Cowan F, Pennock J, Counsell S, Papadimitriou M, Azzopardi D, Bydder G, Dubowitz L. Timing and Etiology of Neonatal Cerebral Infarction Pediatrics 2000; 106: 614-616.

51. Rando’ T, Ricci D, Mercuri E, Frisone MF, Luciano R, Tortorolo G, Guzzetta F. Periodic lateralized epileptiform discharges (PLEDs) as early indicator of stroke in full term newborns. Neuropediatrics, 2000; 31: 202-205.

52. Mercuri E, Sewry CA, Brown SC, Brockington M, Jungbluth H, DeVile C, Counsell S, Manzur A,



Muntoni F. Congenital muscular dystrophy with secondary merosin-deficiency and normal brain MRI : a novel entity? Neuropediatrics, 2000; 31: 186-189.

53. Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation: A new CMD syndrome.Neuromuscular Disorders 2000;1:541-547

54. Biagioni E, Frisone MF, Laroche S, Rutherford M, Counsell S, Cioni G, Azzopardi D, Mercuri E, Cowan FM. Occipital sawtooth: a physiological EEG pattern in very premature infants Clin Neurophysiol, 2000;111:2145-9

55. Cioni G., Bertuccelli B., Boldrini A., Guzzetta A., Mercuri E Correlation between visual function , neurodevelopmental outcome, aand magnetic resonance imaging findings in infants with periventricular leucomalacia Arch.Dis. Child fetal Neon Ed. 2000, 82 :F134-140

56. McGready R., Simpson JA., Panyavudhikrai S., Loo S., Mercuri E, Haataja L., Kolatat T., Nosten F., Dubowitz L. Neonatal neurological testing in resource poor settings. Ann Trop Pediatr, 2000;20:323-336.

57. Mercuri E, Muntoni F. What’s new in … Neuromuscular Disorders. Nuclear envelope and Emery Dreifuss muscular Dystrophy, Eur J Paediatr Neurol, 2001;5:36.

58. Jungbluth H, Sewry C, Brown SC, Nowak KJ, Laing NG, Wallgren-Petterson K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle a-actin (ACTA 1) gene. Neuromuscular Disorders 2001;11:35-40.

59. Pogue R, Anderson LVB Pyle A, Sewry C, Pollitt C, Johnson MA, Davison K, Moss JA, Mercuri E, Muntoni F, Bushby K. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders 2001;11: 80-87.

60. Biagioni E, Mercuri E, Rutherford MA, Cowan FM, Azzopardi D, Frisone MF, Cioni G, Dubowitz LMS. Combined use of EEG and MRI in full-term neonates with acute encephalopathy, Pediatrics 2001;7:461-468.

61. Mercuri E, Rutherford M, DeVile C, Counsell S, Sewry C, Brown S, Bydder G, Dubowitz V,. Muntoni F. Early white matter changes on brain Magnetic Resonance Imaging in a newborn affected by merosin-deficient Congenital Muscular Dystrophy. Neuromusc Disord 2001;11:297-9.

62. Guzzetta A, Mercuri E, Cioni G, van Hof J. Visual function in hemiplegic children in the first years of life. Dev Med Child Neurol, 2001;43:321-9

63. Mercuri E, Cowan F, Gupte G, Manning R, Laffan M, Rutherford M, Edwards AD, Dubowitz L, Roberts I. Prothrombotic disorders and abnormal neurodevelopmental outcome in infants with neonatal cerebral infarction. Pediatrics 2001;107: 1400-1404.

64. Haataja L, Mercuri E, Guzzetta A , Rutherford M, Counsell S, Frisone MF, Cioni G, Cowan F, Dubowitz L. Neurologic examination in infants with hypoxic-ischaemic encephalopathy at age 9-14 months: use of optimality scores and correlation with MRI findings. J Pediatrics, 2001;138:332-7.

65. Guzzetta A, Cioni G, Cowan F, Mercuri E. Visual disorders in children with brain lesions: 1. Maturation of visual function in infants with neonatal brain lesions: correlation with neuroimaging. Eur JPaed Neurol 2001;5: 107-114.

66. Guzzetta A, Mercuri E, Cioni G. Visual disorders in children with brain lesions: 2. Visual impairment associated with cerebral palsy. Eur J Paed Neurol 2001; 5: 114-120.

67. Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F. Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin a/c mutations Neuropathol Appl Neurobiol 2001;27:281-290.

68. Mercuri E Early diagnostic and prognostic indicators in full term infants with neonatal cerebral infarction: an integrated clinical, neuroradiological and EEG approach. Minerva Pediatr 2001;53:305-11

69. Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting C, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F. Mutations in the fukuti-related protein gene (FKPR) cause a form of congenital muscular dystrophy with secondary laminin a2 deficiency and abnormal glycosilation of a -dystroglican. Am J Hum Gen, 2001;69:1198-1209.

70. Counsell SJ, De Vile C, Mercuri E, Allsop J, Muntoni F, Rutherford MA. Magnetic Resonance Imaging Assessment of Infantile Myofibromatosis. Clinical Radiology 2002;57: 67-70.

71. Frisone MF, Mercuri E, Laroche S, Foglia C, Maalouf E, Haataja L, Cowan F, Dubowitz L. Prognostic value of the neurological optimality score in preterm infants born under 31 weeks gestationexamined between 9 and 18 months. Journal Pediatrics, 2002;140: 57-60.



72. Biagioni E, Cioni G, Cowan FM, Rutherford MA, Anker S, Atkinson J, Braddick OJ, Canapicchi R, Guzzetta A, Mercuri E, Visual functions and EEG reactivity in infants with perinatal brain lesions. Dev Med Child Neurol,2002;44: 171-176..

73. Deodato F, Sabatelli M, Ricci E, Mercuri E, Muntoni F, Sewry C, Naom I, Tonali P, Guzzetta F.. Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency. Neuromusc Disord, 2002; 12: 392-398.

74. Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F.Collagen VI involvement in Ullrich syndrome: a clinical, genetic and immunohistochemical study. Neurology, 2002;58: 1354-1359.

75. Mercuri E, Counsell S, Allsop J, Jungbluth H, Bonne G, Schwartz K, Bydder G, Dubowitz V, Muntoni F. Selective muscle involvement on magnetic resonance imaging in Autosomal Dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics 2002; 33: 10-14.

76. Dubowitz V, Kinali M, Main M, Mercuri E, Muntoni F. Remission of clinical signs in early Duchenne muscular dystrophy on intermittent low dosage prednisolone therapy. EJPN, 2002; 6: 153-160.

77. Mercuri E, Rutherford M, Barnett A, Foglia C, Haataja L, Counsell S, Cowan F, Dubowitz L. MRI lesions and infants with neonatal encephalopathy. Is the Apgar score predictive? Neuropediatrics, 2002; 33: 150-153

78. Mercuri E, Talim B, Brockington M, Moghadaszadeh B, Petit N, Counsell S, Guicheney P, Muntoni F, Merlini L. Clinical and imaging findings in 6 cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromusc Disord, 2002;12: 631-634.

79. Jungbluth H, Muller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzuri AY, Ferreiro A, Laing NG, Sewry CA, Muntoni F. Autsoomal recessive inheritance of RYR1 mutations in congenital myopathy with cores..Neurology, 2002;59: 392-398.

80. Mercuri E, Sewry C, Brown SC, Muntoni F. Congenital muscular dystrophies. Sem Ped Neurol, 2002;9: 120-131.

81. Kinali M, Mercuri E, Main M, De Biasia F, Karatza A, Higgins R, Banks L, Manzur A, Muntoni F. Pilot trial of albuterol in Spinal Muscular Atrophy, Neurology, 2002; 59: 609-610.

82. Muntoni F, Bertini E, Bonnemann C, Brockington M, Brown S, Bushby K , Fiszman M, Korner C, Mercuri E, Merlini L, Hewitt J, Quiijano- Roy S, Romero N, Squarzoni S, Sewry CA , Straub V, Topaloglu H, Haliloglu G, Voit T, Wewer U, Guicheney P. 98th ENMC International Workshop on Congenital muscular dystrophy (CMD) , 7th Workshop on the International Consortium on CMD, 2nd Workshop of the MYO Cluster project GENRE 26-28th October, 2001, Naarden, The Netherlands Neur. Dis. 2002;12: 889-896

83. Kinali M, Mercuri E, Main M, Muntoni F, Dubowitz V. An effective, low dosage, inetrmittent schedule of prednisolone in the long term treatment of early cases of Duchenne dystrophy. Neuroluscular disorders, 2002;12: S169-S174.

84. McDonald D, Kinali M, Gallagher AC, Mercuri E, Muntoni F, Roper H, Jardine P, Hilton Jones D, Pike MG. Fracture Prevalence In Duchenne Muscular Dystrophy. Dev Med Child Neurol, 2002 ;44:695-8.

85. Barnett A, Mercuri E, Rutherford M, Haataja L, Frisone MF, Henderson S, Cowan F, Dubowitz L. Neurological and perceptual-motor outcome at 5-6 years of age in children with neonatal encephalopathy: relationship with neonatal brain MRI. Neuropediatrics 2002 ;33:242-8.

86. Mercuri E, Cini C, Counsell S, Allsop J, Zolkipli Z, Jungbluth H, Sewry C, Brown SC, pepe G, Muntoni F. Muscle MRI findings in a 3-generation family affected by Bethlem myopathy. EJPN, 2002;6:309-14

87. Mercuri E, Pichiecchio A, Counsell S, Allsop J, Cini C,Uggetti C, Bydder G. A short protocol for muscle MRI in children with muscular dystrophies. EJPN, 2002, 2002;6:305-7

88. Haataja L, McGready R., Simpson JA., Mercuri E, Nosten F., Dubowitz L. A new approach for neurological evaluation of infants in resource-poor settings. Ann Trop Pediatr, 2002;22:355-68.

89. Haliloglu G, Chattopadhyay A, Skorodis L, Manzur A, Mercuri E, Talim B, Akcoren Z, renda Y, Muntoni F, Topaloglu H. Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature. Neuropediatrics 2002;33:314-9.

90. Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Orstavik KH, Kelsey A, Manzur AY, Mercuri E,Wallgren-Petterson C, Muntoni F. Early and severe presentation of X-linked myotubular myopathy in agirl with skewed x-inactivation. Neuromusc Disord, 2003;13:55-59.

91. Cowan F, Rutherford M, Groenendaal F, Eken P, Mercuri E, Bydder GM, Meiners LC, Dubowitz LM, de Vries LS Origin and timing of brain lesions in term infants with neonatal encephalopathy. Lancet. 2003;1:736-42.



92. Mercuri E, Anker S, Guzzetta A, Barnett A, Braddick O, Haataja L, Rutherford M, Cowan F, Dubowitz L, Atkinson J. Neonatal cerebral infarction and visual function at school age. Arch Dis Child, 2003; 88: F487-491.

93. Miyahara M, Jongmans MJ, Mercuri E, Linda S de Vries, Leslie Henderson, Sheila E Henderson Multiple birth versus neonatal brain lesions in children born prematurely as predictors of perceptuo-motor impairment at age six. Developmental Psychology, 2003, 24: 435-459.

94. Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Hermann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estornet B, Sewry CA, Guicheney P, Voit T, Muntoni F. Phenotypicspectrum associated with mutations in the Fukutin-related protein (FKRP) gene. Annals Neurology, 2003;53:537-542.

95. Mercuri E, Barnett A. Neonatal brain MRI and motor outcome at school age in children with neonatal encephalopathy: a review of personal experience. Neural Plasticity, 2003;10: 51-57.

96. McGready R, Simpson JA, Arunjerdja R, Golfetto I, Ghebremeskel K, Taylor A, Siemieniuk A, Mercuri E, Harper G, Dubowitz L, Crawford M, Nosten F. Delayed visual maturation in karen refugee infants. Ann Trop Ped, 2003, 23:193-204.

97. Guzzetta A, Mercuri E, Rapisardi G, Ferrari F, Roversi MF, Cowan F, Rutherford M, Paolicelli PB, Einspieler C, Boldrini A, Dubowitz L, Prechtl HFR, Cioni G. General movements detect early signs of hemiplegia in term infants with neonatal cerebral infarction. Neuropediatrics, 2003; 34: 61-6.

98. Zolkipli Z, Hartley L, Brown S, Rutherford M, Cowan F, Mercuri E, Muntoni F. Occipito-temporal polymicrogiria and subclinical muscular dystrophy. Neuropediatrics, 2003;34: 92-95.

99. Mercuri E, Guzzetta A, Laroche S, Ricci D, vanHaastert IL, Simpson A, Luciano R, Frisone MF, Haataja L, Tortorolo G, Guzzetta F, de Vries L, Cowan F, Dubowitz L Neurological examination of preterm infants at term age: comparison with full term infants. Journal Pediatrics;2003: 647-655.

100. Haataja L, Cowan F., Mercuri E, Bassi L., Guzzetta A, Dubowitz L. Application of a scorable neurologic examination in healthy term infants at age 3 to 8 months, Journal Pediatrics, 2003:546.

101. Mercuri E, Cini C, Pichiecchio A, Counsell S, Allsop J, Zolkipli Z.,. Brown SC,. Brockington M,. Yuva Y, Sewry CA, Muntoni F. Muscle Magnetic Resonance Imaging in patients with congenital muscular dystrophy and Ullrich phenotype. Neuromuscular disorders, 2003;13: 554-7.

102. Main M, Kairon H, Mercuri E, F Muntoni F. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. European Journal Pediatric Neurology, 2003; 13: 554-8.

103. Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali S, Demay L, Bourke J, Richard P, Sewry C, Bonne G, Muntoni F, Bushby K, Extreme variability of phenotype in patients with an identical missensemutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classical Emery-Dreifuss variant. Archives Neurology, 2004; 6: 690-4.

104. Mercuri E, Barnett A.L.,Rutherford M, Guzzetta A, Haataja L, Cioni G, Cowan F., Dubowitz L. Neonatal cerebral infarction and neuromotor outcome at school age. Pediatrics, 2004; 113:95-100.

105. Barnett A.L., Guzzetta A., Mercuri E, Henderson S.E., Haataja L, Cowan F., Dubowitz L Predictive value of the Griffiths Mental Development Scales in full term infants with Neonatal Encephalopathy. Arch Dis Child, 2004; 89:637-43

106. Pane M, Baranello G, Battaglia D, Donvito V, Carnevale F, Stefanini MC, Guzzetta F, Mercuri E, Bertini E. Severe abnormalities of the pons in two infants with Goldenhar syndrome. Neuropediatrics. 2004 ;35:234-8

107. Mercuri E, Lampe A, Straub V, Yuva Y, Longman C, Wright M, Brown S, Sewry C, Bonnemann C, Kinali M, Brockington M, Hausser I, Hilton Jones D, Voit T, Bushby K, Muntoni F. Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. Neuropediatrics. 2004;35:224-9.

108. Longman C, Mercuri E, Cowan F, Allsop J, Brockington M, Jimenez-Mallebrera C, Kumar S, Rutherford M, Toda T, Muntoni F. Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. Arch Neurol. 2004 ;61:1301-6.

109. Kinali M, Olpin SE, Clayton PT, Daubeney PE, Mercuri E, Manzur AY, Tein I, Leonard J, Muntoni F. Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy. Eur J Paediatr Neurol. 2004; 8:217-9.

110. Rando T, Bancale A, Baranello G, Bini M, De Belvis AG, Epifanio R, Frisone MF, Guzzetta A, La Torre G, Ricci D, Signorini S, Tinelli F, Biagioni E, Veggiotti P, Mercuri E, Fazzi E, Cioni G, Guzzetta F. Visual function in infants with West syndrome: correlation with EEG patterns. Epilepsia. 2004; 45:781-6

111. Mercuri E, Messina S, Kinali M, Cini C, Longman C, Battini R, Cioni G, Muntoni F. Congenital



form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study. Neuromuscular Disorders, 2004;14:125-9

112. Mercuri E, Bertini E, Messina S, Pelliccioni M, D’Amico A, Colitto F, Mirabella M, Tiziano D, Vitali T, Angelozzi C, Kinali M, Main M, Brahe C. Pilot trial of phenylbutyrate in Spinal Muscular Atrophy, Neuromuscular Disorders, 2004;14:130-5.

113. Jungbluth H, Davis MR, Muller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F.Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord. 2004;14:785-90.

114. Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, North K, Laing N, Bydder G, Pelin K, Wallgren-Pettersson C, Muntoni F. Magnetic resonance imaging of muscle in nemaline myopathy Neuromuscul Disord. 2004;14:779-84.

115. Messina S, Hartley L, Main M, Kinali M, Jungbluth H, Muntoni F, Mercuri E. Pilot trial of salbutamol in central core and multi-minicore diseases. Neuropediatrics. 2004;35:262-6.

116. Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, Borgo F, Moscato U, Bertini E, Mercuri E, Neri G. Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.Eur J Hum Genet. 2004, 03;

117. Kinali M, Jungbluth H, Eunson LH, Sewry CA, Manzur AY, Mercuri E, Hanna MG, Muntoni F. Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. Neuromuscul Disord. 2004;14:689-93.

118. Mercuri E, Anker S, Guzzetta A, Barnett AL, Haataja L, Rutherford M, Cowan F, Dubowitz L, Braddick O, Atkinson J. Visual function at school age in children with neonatal encephalopathy and low Apgar scores.Arch Dis Child Fetal Neonatal Ed. 2004;89:F258-62

119. Kinali M, Banks LM, Mercuri E, Manzur AY, Muntoni F. Bone mineral density in a paediatric spinalmuscular atrophy population. Neuropediatrics. 2004;35:325-8

120. Guzzetta A, Haataja L, Cowan F, Bassi L, Ricci D, Cioni G, Dubowitz L, Mercuri E. Neurological Examination in Healthy Term Infants Aged 3-10 Weeks. Biol Neonate. 200428;87:187-196.

121. Vasta I, Kinali M, Messina S, Guzzetta A, Kapellou O, Manzur A, Cowan F, Muntoni F, Mercuri E. Can clinical signs identify newborns with neuromuscular disorders? J Pediatr. 2005 ;146:73-9.

122. Cowan FM, Mercuri E, Rutherford MA Perinatal stroke in term infants with neonatal encephalopathy. Neurology. 2005 8;64:579-580.

123. Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Saenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord.2005;15:164-71.

124. Brahe C,Vitali T, Di Tiziano F, Angelozzi C, Pinto A, Borgo F, Moscato U, Bertini E, Mercuri E and Neri G Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients Eur. J. Human Genetics 2005; 13: 256-259

125. Boardman JP, Ganesan V, Rutherford MA, Saunders DE, Mercuri E, Cowan F. Magnetic resonance image correlates of hemiparesis after neonatal and childhood middle cerebral artery stroke. Pediatrics. 2005 ;115:321-6.

126. Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy RJ, Messina S, Sewry C, Burke MM, McKenna W, Bonne G, Muntoni F. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve. 2005

127. Mercuri E, Poulton J, Messiina S, Bonne G and Muntoni F Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene Muscle Nerve 2005; 602-609

128. Lucioli S, Giusti B, Mercuri E, Camacho Vanegas O, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, Bönneman C, Iannaccone S, Merlini L, Bushby K, Muntoni F, Bertini E, Chu M, Pepe G. Detection of common and private mutations in the COL6A1 gene of patients affected with Bethlem Myopathy by direct cDNA sequencing. Neurology. 2005;64:1931-7.

129. Lucarini L, Giusti B, Zhang R, Pan T, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, and Chu M. A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. Hum Genet. 2005;117:460-6.

130. Mercuri E,Lampe A, Allsopp J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Bushby K, Pepe G, Muntoni F. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscular Disorders, 2005;15:303-10.

131. Ricci D, Pane M, Deodato F, Vasco G, Randò T, Dionisi-Vici C, Mercuri E. Assessment of visual



function in children with of methylmalonic aciduria and homocystinuria. Neuropediatrics. 2005 ;36:181-5.

132. Cowan F, Mercuri E, Groenendaal F, Bassi L, Ricci D, Rutherford M, de Vries L. Cranial ultrasound imaging does identify arterial cerebral infarction in term neonates. Arch Dis Child Fetal Neonatal Ed. 2005;90:F252-6.

133. Rando T, Ricci D, Luciano R, Frisone MF, Baranello G, Tonelli T, Pane M, Romagnoli C, TortoroloG, Mercuri E,Guzzetta F. Prognostic value of EEG performed at term age in preterm infants.Childs Nerv Syst. 2006 ;22:263-269.

134. Dubowitz L, Ricci D, Mercuri E. The Dubowitz neurological examination of the full-term newborn. Ment Retard Dev Disabil Res Rev. 2005;1:52-60.

135. Mercuri E, Ricci D, Pane M, Baranello G. The neurological examination of the newborn baby. Early Hum Dev. 2005; 81:947-956

136. Rando T, Baranello G, Ricci D, Guzzetta A, Tinelli F, Biagioni E, La Torre G, Epifanio R, Signorini S, Fazzi E, Mercuri E, Cioni G, Guzzetta F. Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function. Dev Med Child Neurol. 2005;47:760-5.

137. Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K. 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscul Disord. 2005;15:802-16.

138. Mercuri E, Jungbluth H, Muntoni F. Muscle imaging in clinical practice: diagnostic value of musclemagnetic resonance imaging in inherited neuromuscular disorders. Curr Opin Neurol. 2005;18:526-37.

139. Mercuri E, Longman C. Congenital muscular dystrophy. Pediatr Ann. 2005 ;34:560-2, 564-8.

140. D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E. Expanding the clinical spectrum of POMT1 phenotype. Neurology. 2006;66:1564-7.

141. Mercuri E, D'Amico A, Tessa A, Berardinelli A, Pane M, Messina S, van Reeuwijk J, Bertini E, Muntoni F, Santorelli FM. POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscul Disord. 2006

142. Kinali M, Messina S, Mercuri E, Lehovsky J, Edge G, Manzur AY, Muntoni F. Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study. Dev Med Child Neurol.2006 ;48:513-8.

143. Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Recan D,Shatunov A, Sewry CA, Brown SC. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain. 2006;129:1260-8.

144. Gallini F, Luciano R, Pane M, De Carolis MP, Romagnoli C, Mercuri E. Crossed cerebellar atrophy of prenatal onset. Childs Nerv Syst. 2006;22:734-6

145. Ricci D, Anker S, Cowan F, Pane M, Gallini F, Luciano R, Donvito V, Baranello G, Cesarini L, Bianco F, Rutherford M, Romagnoli C, Atkinson J, Braddick O, Guzzetta F, Mercuri E. Thalamic atrophy in infants with PVL and cerebral visual impairment. Early Hum Dev. 2006

146. Baranello G, Rando T, Bancale A, D'Acunto MG, Epifanio R, Frisone MF, Guzzetta A, La Torre G,Mannocci A, Ricci D, Signorini S, Tinelli F, Biagioni E, Veggiotti P, Fazzi E, Mercuri E, Cioni G, Guzzetta F. Auditory attention at the onset of West syndrome: correlation with EEG patterns and visual function. Brain Dev. 2006;28:293-9.

147. Mercuri E,Topaloglu H, Brockington M, Berardinelli A, Pichiecchio A, Santorelli F, Rutherford M, Talim B, Ricci E, Voit T, Muntoni F. Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.Arch Neurol. 2006;63:251-7.

148. Mercuri E, Messina S, Battini R, Berardinelli A, Boffi P, Bono R, Bruno C, Carboni N, Cini C, Colitto F, D'Amico A, Minetti C, Mirabella M, Mongini T, Morandi L, Dlamini N, Orcesi S, Pelliccioni M, Pane M, Pini A, Swan AV, Villanova M, Vita G, Main M, Muntoni F, Bertini E. Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul Disord. 2006;16:93-8

149. Ricci D, Cowan F, Pane M, Gallini F, Haataja L, Luciano R, Cesarini L, Leone D, Donvito V, Baranello G, Rutherford M, Romagnoli C, Dubowitz L, Mercuri E. Neurological examination at 6 to 9 months in infants with cystic periventricular leukomalacia.

Neuropediatrics. 2006 ;37:247-52.

150. Ricci D, Guzzetta A, Cowan F, Haataja L, Rutherford M, Dubowitz L, Mercuri E. Sequential



neurological examinations in infants with neonatal encephalopathy and low apgar scores: relationship with brain MRI. Neuropediatrics. 2006 ;37:148-53.

151. Kinali M, Manzur AY, Mercuri E, Gibson BE, Hartley L, Simonds AK, Muntoni F. UK physicians' attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular Dystrophy. Pediatr Rehabil. 2006;9:351-64.

152. Pane M, Vasta I, Messina S, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali M, Ricci E, Mercuri E. Feeding problems and weight gain in Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2006; 6:231-6.

153. Biagioni E, Frisone MF, Laroche S, Kapetanakis BA, Ricci D, Adeyi-Obe M, Lewis H, Kennea N, Cioni G, Cowan F, Rutherford M, Azzopardi D, Mercuri E. Maturation of cerebral electrical activity and development of cortical folding in young very preterm infants. Clin Neurophysiol. 2007;118:53-9.

154. Mercuri E,Bertini E, Messina S, Solari A, D'Amico A, Battini R, Berardinelli A, Boffi P, Bruno C, Cini C, Colitto F, , Minetti C, Mongini T, Morandi L, Orcesi S, Pelliccioni M, Pane M, Pini A, Villanova M,Vita G, Brahe C. Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology, 2007;68:51-5.

155. Hartley L, Kinali M, Knight R, Mercuri E,Hubner C, Bertini E, Manzur AY, Jimenez-Mallebrera C, Sewry CA, Muntoni F. A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.Neuromuscul Disord. 2007

156. Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F. Muscle MRI in inherited neuromuscular disorders: Past, present, and future.J Magn Reson Imaging. 2007;25:433-40.

157. Main M, Mercuri E, Haliloglu G, Baker R, Kinali M, Muntoni F.Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?Neuromuscul Disord. 2007 Mar;17(3):227-30.

158. Pescatori M, Broccolini A, Minetti C, Bertini E, Bruno C, D'amico A, Bernardini C, Mirabella M, Silvestri G, Giglio V, Modoni A, Pedemonte M, Tasca G, Galluzzi G, Mercuri E,Tonali PA, Ricci E. Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.FASEB J. 2007

159. Kinali M, Main M, Eliahoo J, Messina S, Knight RK, Lehovsky J, Edge G. Mercuri E, AY, Muntoni F Predictive factors for the development of scoliosis in Duchenne muscular dystrophy. Eur. J. PediatricNeurol, 2007

160. Tiziano FD, Bertini E, Messina S, Angelozzi C, Pane M, D'Amico A, Alfieri P, Fiori S, Battini R, Berardinelli A, Boffi P, Bruno C, Cini C, Minetti C, Mongini T, Morandi L, Orcesi S, Pelliccioni M, Pini A, Villanova M, Vita G, Locatelli M, Mercuri E, Brahe C.The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.Neuromuscul Disord. 2007;17:400-3.

161. Ricci D, Luciano R, Baranello G, Veredice C, Cesarini L, Bianco F, Pane M, Gallini F, Vasco G, Savarese I, Zuppa A, Masini L, Di Rocco C, Romagnoli C, Guzzetta F, Mercuri E. Visual development in prenatal post-haemorrhagic ventricular dilatation. Arch Dis Child Fetal Neonatal Ed. 2007 Jul;92(4):F255-8

162. Luciano R, Baranello G, Masini L, Ricci D, Gallini F, Ciotti S, Leone D, Serrao F, Santis MD, Zecca E, Zuppa A, Romagnoli C, Rocco CD, Guzzetta F, Mercuri E. Antenatal Post-hemorrhagic Ventriculomegaly: A Prospective Follow-up Study.Neuropediatrics. 2007 Jun;38(3):137-42.

163. Ricci D, Vasco G, Baranello G, Salerni A, Amante R, Tamburrini G, Dickmann A, Di Rocco C, Velardi F, Mercuri E. Visual function in infants with non-syndromic craniosynostosis.Dev Med Child Neurol. 2007 Aug;49(8):574-6.

164. Caputo R, Tinelli F, Bancale A, Campa L, Frosini R, Guzzetta A, Mercuri E, Cioni G.Motor coordination in children with congenital strabismus: effects of late surgery.Eur J Paediatr Neurol. 2007 Sep;11(5):285-91.

165. Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.Brain. 2007 Oct;130(Pt 10):2725-35.Epub 2007 Sep 18.

166. Romeo DM, Cioni M, Guzzetta A, Scoto M, Conversano M, Palermo F, Romeo MG, Mercuri E.Application of a scorable neurological examination to near-term infants: longitudinal data. Neuropediatrics 2007 Oct;38(5):233-8.

167. Klein A, Clement E, Mercuri E, Muntoni F. Differential diagnosis of congenital muscular dystrophies. Eur J Paediatr Neurol. 2008 Sep;12(5):371-7..

168. Baranello G, Vasco G, Ricci D, Mercuri E. Visual function in nonsyndromic craniosynostosis:



past, present, and future.Childs Nerv Syst. 2007 Dec;23(12):1461-5.

169. Ricci D, Romeo DM, Serrao F, Cesarini L, Gallini F, Cota F, Leone D, Zuppa AA, Romagnoli C, Cowan F, Mercuri E. Application of a neonatal assessment of visual function in a population of low riskfull-term newborn.Early Hum Dev. 2007 Nov 7

170. Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC.Muscular dystrophies due to defective glycosylation of dystroglycan. Acta Myol. 2007 Dec;26(3):129-35

171. Guzzetta F, Cioni G, Mercuri E, Fazzi E, Biagioni E, Veggiotti P, Bancale A, Baranello G, Epifanio R, Frisone MF, Guzzetta A, La Torre G, Mannocci A, Randò T, Ricci D, Signorini S, Tinelli F. Neurodevelopmental evolution of West syndrome: A 2-year prospective study. Eur J Paediatr Neurol. 2007 Dec 4

172. Bassi L., Ricci D.,Volzone A., Allsop JM, Srinivasan I., Pai A., Ribes C.,Ramenghi I. A.,Mercuri E., Mosca F., Edwards AD, cowan FM, Rutheford MA, Counsell SJ. Probabilistic diffusion tractography of the optic radiations and visual function in preterm in equivalent age. Brain 2008; 131:573-582.

173. Ricci D., Mercuri E.,Barnett A., Rathbone R., Cota F., Haataja L., Rutheford M.,Dubowitz L. Cowan F. Cognitive outcome at early school age in term-born children with perinatally acquired midk territory infarction. Stroke;39:403-410.

174. Ricci D., Cesarini L., Groppo M., De Carli A., Gallini F., Serrao F., Fumagalli M., Cowan F., Raminghi I.A, Anker S., Mercuri E., Mosca F. Early assessment of visual function in full term newborns.Early Hum. Dev. 2008; 84: 107-113.

175. Ricci D. , Romeo DM, Serrao F.,Cestini L., Gallini F., Cota F., Leone D., Zuppa AA, Romagnoli C.;Cowan F., Mercuri E., Application of a neonatal assessment of visual function in a population of low risk full-term. Early Hum. Dev. 2008 Apr; 84(4): 277-280.

176. Aloysius A., Born P., Kinali M., Davis T., Pane M., Mercuri E. Swallowing difficulties in Duchenne muscular dystrophy. Indications for feeding assessment videofluroscopic swallow studies. Eur. J. Pediatric Neurol. 2008 May; 12 (3) : 239-245

177. Messina S., Mora M., Pegoraro E., Pini A.,Mongini T., D’Amico A., Pane M., Aiello C., Bruno C., Biancheri R., Berardinelli A., Boito C., Farina I., Moranti I., Pezzani R., Pichiecchio A., Ricci E., Ruggeri A., Saredi S., Scuderi C., Tessa A., Toscano A., Tortorella G., Trevisan CP, Uggetti C., Santarelli FM, Bestini E., Mercuri E. POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study. Neuromuscul. Disord. 2008 May; 29

178. Vasco G., Baranello G., Ricci D., Salerni A., Tamburini G., Amante R., Dickman A., Di Rocco C., Velardi F., Mercuri E. Longitudinal assessment of visual development in non-syndromic craniosynostosis : a one-surgical study. Arch. Dis. Child 2008 May; 7

179. Messina S., Pane M., De Rose P., Vasta I., Sorteti D., Aloysius A., Sciarpa F., Mangiola F., Kinali M., Bertini E., Mercuri E. Feeding problems and malnutrition in spinal muscular artrophy type II. Neuromuscul Disord., 2008 May; 18(5):389-93.

180. Pane M., Staccioli S., Messina S., D’Amico A., Pellliccioni M., Mazzone ES, Cuttini M., Alfieri P., Battini R., Main M., Muntoni F., Bestini E., Villanova M., Mercuri E. Daily subtamol in young patients with SMA type II. Neuromuscul. Disord.2008 Jun; 23.

181. Mercuri E., Messina S., Pane M., Bertini E. Current methological issues in the study of children with inherited euromuscular disorder. Dev. Med. Child Neurol. 2008, June; 50 (6): 417-421.

182. Atkinson J, Braddick O, Anker S, Nardini M, Birtles D, Rutheford MA, Mercuri E., Dyet I. E., Edwards AD, Cowan PM. Cortical vision , MRI and developmental outcome in preterm infants. Arch. Dis. Child Fetal Neonatal 2008 July;93(4): F 292-297

183. Ricci D, Romeo DMM, Haataaja L, van Haastert IC, Cesarini L., Maunu J. Pane M., Gallini F. , Luciano R., Romagnoli C., de Vries Ls, Cowan F, Mercuri E. Neurological examination of preterm infants at term equivalent age. Early Hum. Dev. 2008 Jul; 7 [Epub ahead of print]

184. Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation Ann Neurol. 2008 Nov;64(5):573-82.

185. Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC. Musculardystrophies due to defective glycosylation of dystroglycan.Acta Myol. 2007 Dec;26(3):129-35. Review.

186. Colitto F, Bianco F, Luciano R, Donvito V, Baranello G, Brogna C, Masini L, Ciotti S, Mercuri E. Visual, motor and perceptual abilities at school age in children with isolated mild antenatal ventricular



dilatation. Early Hum Dev. 2009 Mar;85(3):197-200. Epub 2008 Nov 28.

187. Cesarini L, Alfieri P, Pantaloni F, Vasta I, Cerutti M, Petrangeli V, Mariotti P, Ricci D, Vicari S, Selicorni A, Tartaglia M, Mercuri E, Zampino G. Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade Am J Med Genet A. 2009 Feb;149A(2):140-6.

188. Ricci D, Cesarini L, Romeo D, Gallini F, Serrao F, Groppo M, De Carli A, Cota F, Lepore V, Molle F, De Carolis MP, Mosca F, Romagnoli C, Guzzetta F, Cowan F, Ramenghi L, Mercuri E. Visual function at 35 and 40 weeks postmenstrual age in low risk preterm infants. Pediatrics. 2008 Dec;122(6):e1193-8.

189. Mercuri E, Mayhew A, Muntoni F, Messina S, Straub V, Van Ommen GJ, Voit T,. Bertini E,. Bushby K. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops Neuromuscul Disord. 2008 Nov;18(11):894-903. Epub 2008 Sep 24.

190. Gualandi F, Neri M, Bovolenta M ,Martoni E, Rimessi P, Fini S, Spitali P, Fabris M, Angelini C, Mora M, Morandi L, Mongini T, Bertini E, Ricci E, Vattemi G, Mercuri E, Merlini L Ferlini A Transcriptional behaviour of DMD gene duplications in DMD/BMD males Hum Mutat. 2009 Feb;30(2):E310-9.

191. Battini R, Sgandurra G , Petacchi E, Guzzetta A, Di Pietro R , Giannini MT , Leuzzi V , Mercuri E,Cioni G. Movement Disorder-Childhood Rating Scale: reliability and validità, Pediatr Neurol. 2008 Oct;39(4):259-65.

192. Mercuri E. Visual function in infants with brain lesions (1994).Dev Med Child Neurol. 2008 Nov;50(11):804.

193. Dudink J, Mercuri E, Al-Nakib L, Govaert P, Counsell SJ, Rutherford MA, Cowan FM. Evolution of unilateral perinatal arterial ischemic stroke on conventional and diffusion-weighted MR imaging. AJNR Am J Neuroradiol. 2009 May;30(5):998-1004. Epub 2009 Feb 4.

194. Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26;72(21):1802-9. Epub 2009 Mar 18.

195. Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. Hum Mutat. 2009 May;30(5):E662-72.

196. Battini R, Guzzetta A, Sgandurra G, Di Pietro R, Petacchi E, Mercuri E, Giannini MT, Leuzzi V, Cioni G. Scale for evaluation of movement disorders in the first three years of life. Pediatr Neurol. 2009 Apr;40(4):258-64.

197. Mazzone ES, Messina S, Vasco G, Main M, Eagle M, D'Amico A, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Magri F, Corlatti A, Zucchini E, Brancalion B, Rossi F, Ferretti M, Motta MG, CecioMR, Berardinelli A, Alfieri P, Mongini T, Pini A, Astrea G, Battini R, Comi G, Pegoraro E, Morandi L, Pane M, Angelini C, Bruno C, Villanova M, Vita G, Donati MA, Bertini E, Mercuri E. Reliability of the North Star Ambulatory Assessment in a multicentric setting.Neuromuscul Disord. 2009 Jul;19(7):458-61.

198. Mercuri E, Manzur A, Main M, Alsopp J, Muntoni F. Is there post-natal muscle growth in amyoplasia? A sequential MRI study. Neuromuscul Disord. 2009 Jun;19(6):444-5. Epub 2009 May 27.

199. Alfieri P, Cesarini L, Zampino G, Pantaleoni F, Selicorni A, Salerni A, Vasta I, Cerutti M, DickmannA, Colitto F, Staccioli S, Leoni C, Ricci D, Brogna C, Tartaglia M, Mercuri E.Visual function in Noonan and LEOPARD syndrome. Neuropediatrics. 2008 Dec;39(6):335-40. Epub 2009 Jun 30.

200. Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY,Robb SA, Mercuri E, Muntoni F. : Natural history of Ullrich congenital muscular dystrophy.Neurology. 2009 Jul 7;73(1):25-31.

201. Tiziano FD, Pinto AM, Fiori S, Lomastro R, Messina S, Bruno C, Pini A, Pane M, D'Amico A, Ghezzo A, Bertini E, Mercuri E, Neri G, Brahe C. SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur J Hum Genet. 2009 Jul 15. [Epub ahead of print]

202. Astrea G, Schessl J, Clement E, Tosetti M, Mercuri E, Rutherford M, Cioni G, Bönnemann CG, Muntoni F, Battini R. Muscle MRI in FHL1-linked reducing body myopathy. Neuromuscul Disord. 2009 Jul 16.

203. Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Identification and characterization



of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. Hum Mutat. 2009 May;30(5):E662-72.

204. Mercuri E, Manzur A, Main M, Alsopp J, Muntoni F. Is there post-natal muscle growth in amyoplasia? A sequential MRI study. Neuromuscul Disord. 2009 Jun;19(6):444-5. Epub 2009 May 27.

205. Mazzone ES, Messina S, Vasco G, Main M, Eagle M, D'Amico A, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Magri F, Corlatti A, Zucchini E, Brancalion B, Rossi F, Ferretti M, Motta MG, CecioMR, Berardinelli A, Alfieri P, Mongini T, Pini A, Astrea G, Battini R, Comi G, Pegoraro E, Morandi L, Pane M, Angelini C, Bruno C, Villanova M, Vita G, Donati MA, Bertini E, Mercuri E. Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord. 2009 Jul;19(7):458-61.

206. Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY,Robb SA, Mercuri E, Muntoni F. Natural history of Ullrich congenital muscular dystrophy. Neurology. 2009 Jul 7;73(1):25-31.

207. Alfieri P, Cesarini L, Zampino G, Pantaleoni F, Selicorni A, Salerni A, Vasta I, Cerutti M, DickmannA, Colitto F, Staccioli S, Leoni C, Ricci D, Brogna C, Tartaglia M, Mercuri E. Visual function in Noonan and LEOPARD syndrome. Neuropediatrics. 2008 Dec;39(6):335-40. Epub 2009 Jun 30.

208. Tiziano FD, Pinto AM, Fiori S, Lomastro R, Messina S, Bruno C, Pini A, Pane M, D'Amico A, Ghezzo A, Bertini E, Mercuri E, Neri G, Brahe C. SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur J Hum Genet. 2010 Jan;18(1):52-8. Epub

209. Astrea G, Schessl J, Clement E, Tosetti M, Mercuri E, Rutherford M, Cioni G, Bönnemann CG, Muntoni F, Battini R. Muscle MRI in FHL1-linked reducing body myopathy. Neuromuscul Disord. 2009 Oct;19(10):689-91. Epub 2009 Jul 17

210. Guzzetta A, Pizzardi A, Belmonti V, Boldrini A, Carotenuto M, D'Acunto G, Ferrari F, Fiori S, GalloC, Ghirri P, Mercuri E, Romeo D, Roversi MF, Cioni G. Hand movements at 3 months predict later hemiplegia in term infants with neonatal cerebral infarction. Dev Med Child Neurol. 2009 Oct 23.

211. Messina S, Tortorella G, Concolino D, Spanò M, D'Amico A, Bruno C, Santorelli FM, Mercuri E, Bertini E.

a. Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.

b. Neurology. 2009 Nov 10;73(19):1599-601.

212. Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L. Autosomal recessive Bethlem myopathy. Neurology. 2009 Dec 1;73(22):1883-91.

213. Ricci D, Cesarini L, Gallini F, Serrao F, Leone D, Baranello G, Cota F, Pane M, Brogna C, De Rose P, Vasco G, Alfieri P, Staccioli S, Romeo DM, Tinelli F, Molle F, Lepore D, Baldascino A, Ramenghi LA, Torrioli MG, Romagnoli C, Cowan F, Atkinson J, Cioni G, Mercuri E. Cortical visual function in preterm infants in the first year. J Pediatr. 2010 Apr;156(4):550-5. Epub 2010 Jan 13.

214. De Rose P, Perrino F, Lettori D, Alfieri P, Cesarini L, Battaglia D, Ricci D, Guzzetta F, Mercuri E. Visual and visuoperceptual function in children with Panayiotopoulos syndrome.Epilepsia. 2010 Jan 7.

215. Ricci D, Romeo DM, Serrao F, Gallini F, Leone D, Longo M, Albamonte E, Romeo MG, MazzoneD, Romagnoli C, Cowan F, Mercuri E. Early assessment of visual function in preterm infants: how early is early? Early Hum Dev. 2010 Jan;86(1):29-33. Epub 2010 Jan 6.

216. Glanzman AM, Mazzone E, Main M, Pelliccioni M, Wood J, Swoboda KJ, Scott C, Pane M, Messina S, Bertini E, Mercuri E, Finkel RS. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord. 2010 Mar;20(3):155-61. Epub 2010 Jan 13.

217. Ramenghi LA, Ricci D, Mercuri E, Groppo M, De Carli A, Ometto A, Fumagalli M, Bassi L, Pisoni S, Cioni G, Mosca F. Visual performances and brain structures in the developing brain of preterm infants.Early Hum Dev. 2010 Feb 12. [Epub ahead of print]

218. Romeo DM, Di Stefano A, Conversano M, Ricci D, Mazzone D, Romeo MG, Mercuri E. Neurodevelopmental outcome at 12 and 18 months in late preterm infants. Eur J Paediatr Neurol. 2010 Mar 4. [Epub ahead of print]

219. Allamand V, Merlini L, Bushby K; Consortium for Collagen VI-Related Myopathies. 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. Neuromuscul Disord. 2010 May;20(5):346-54. Epub 2010 Mar 7. No abstract available.

220. Barone MR, Battaglia D, Veredice C, De Waure C, Ricci D, Baranello G, Mercuri E, Guzzetta F. Early development of epileptic infants with pre- or perinatal brain injuries: role of the epileptic disorder. Neuropediatrics. 2009 Oct;40(5):218-23. Epub 2010 Mar 10.



221. Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M, Messina S, Gualandi F, Ricci E, Rutherford M, Muntoni F. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol. 2010 Feb;67(2):201-8.

222. Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E,Merlini L, Bonaldo P, Ferlini A, Gualandi F. 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. BMC Med Genet. 2010 Mar 19;11:44.

223. Kinali M, Arechavala-Gomeza V, Cirak S, Glover A, Guglieri M, Feng L, Hollingsworth KG, Hunt D, Jungbluth H, Roper HP, Quinlivan RM, Gosalakkal JA, Jayawant S, Nadeau A, Hughes-Carre L, Manzur AY, Mercuri E, Morgan JE, Straub V, Bushby K, Sewry C, Rutherford M, Muntoni F. Muscle histology vs MRI in Duchenne muscular dystrophy. Neurology. 2011 Jan 25;76(4):346-53. IF: 7.04

224. Gallini F, Baranello G, Serrao F, Alfieri P, Cota F, Maggio L, Tamburrini G, Romagnoli C, Mercuri E. External hydrocephalus in discordant birth weight twins: a case report. J Matern Fetal Neonatal Med. 2011 Feb;24(2):337-40.

225. Chieffo D, Ricci D, Baranello G, Martinelli D, Veredice C, Lettori D, Battaglia D, Dravet C, Mercuri E, Guzzetta F. Early development in Dravet syndrome; visual function impairment precedes cognitive decline. Epilepsy Res. 2011 Jan;93(1):73-9. Epub 2010 Nov 24.

226. Mercuri E, Mazzone E. Choosing the right clinical outcome measure: from the patient to the statistician and back. Neuromuscul Disord. 2011 Jan;21(1):16-9. Epub 2010 Sep 28.

227. Ricci D, Romeo DM, Gallini F, Groppo M, Cesarini L, Pisoni S, Serrao F, Papacci P, Contaldo I, Perrino F, Brogna C, Bianco F, Baranello G, Sacco A, Quintiliani M, Ometto A, Cilauro S, Mosca F, Romagnoli C, Romeo MG, Cowan F, Cioni G, Ramenghi L, Mercuri E. Early visual assessment in preterm infants with and without brain lesions: correlation with visual and neurodevelopmental outcome at 12 months. Early Hum Dev. 2011 Mar;87(3):177-82. Epub 2011 Jan 14.

228. Alfieri P, Cesarini L, Mallardi M, Piccini G, Caciolo C, Leoni C, Mirante N, Pantaleoni F, Digilio MC, Gambardella ML, Tartaglia M, Vicari S, Mercuri E, Zampino G. Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade. Behav Genet. 2011 May;41(3):423-9. Epub 2011 Jan 28.

229. Romeo DM, Ricci D, Baranello G, Pagliano E, Brogna C, Olivieri G, Contaldo I, Mazzone D, Quintiliani M, Torrioli MG, Romeo MG, Mercuri E. The forward parachute reaction and independent walking in infants with brain lesions. Dev Med Child Neurol. 2011 Jul;53(7):636-40. Epub 2011 Mar 21.

230. Mazzone E, Bianco F, Martinelli D, Glanzman AM, Messina S, De Sanctis R, Main M, Eagle M, Florence J, Krosschell K, Vasco G, Pelliccioni M, Lombardo M, Pane M, Finkel R, Muntoni F, Bertini E,Mercuri E. Assessing upper limb function in nonambulant SMA patients: development of a new module. Neuromuscul Disord. 2011 Jun;21(6):406-12. Epub 2011 Mar 21.

231. Chieffo D, Battaglia D, Lettori D, Del Re M, Brogna C, Dravet C, Mercuri E, Guzzetta F. Neuropsychological development in children with Dravet syndrome. Epilepsy Res. 2011 Jun;95(1-2):86-93. Epub 2011 Apr 6.

232. Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. Neurogenetics. 2011 Aug;12(3):241-5. Epub 2011 Apr 12

233. Romeo DM, Ricci D, Brogna C, Cilauro S, Lombardo ME, Romeo MG, Mercuri E. Neurological examination of late-preterm infants at term age. Eur J Paediatr Neurol. 2011 Jul;15(4):353-60. Epub 2011 Apr 22.

234. Bianco F, Leone A, Pane M, Vasco G, Colosimo C, Mercuri E. Muscle MRI: out of the tunnel. Neuromuscul Disord. 2011 Jul;21(7):501-2. Epub 2011 May 13.

235. Bönnemann CG, Rutkowski A, Mercuri E, Muntoni F; CMD Outcomes Consortium. 173rd ENMCInternational Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands. Neuromuscul Disord. 2011 Jul;21(7):513-22. Epub 2011 Jun 8.

236. Tinelli F, Guzzetta A, Bertini C, Ricci D, Mercuri E, Ladavas E, Cioni G. Greater sparing of visual search abilities in children after congenital rather than acquired focal brain damage. Neurorehabil Neural Repair. 2011 Oct;25(8):721-8. Epub 2011 Jun 6.

237. Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Jones DH, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. 2011Jun 14;76(24):2073-8.

238. Mazzone E, Vasco G, Sormani MP, Torrente Y, Berardinelli A, Messina S, D'Amico A, Doglio L,



Politano L, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Zucchini E, De Sanctis R, Scutifero M, Bianco F,Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Gasperini S, Previtali S, Napolitano S, Martinelli D, Bruno C, Vita G, Comi G, Bertini E, Mercuri E. Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology. 2011 Jul 19;77(3):250-6. Epub 2011 Jul 6.

239. Damiano F, Mercuri E, Stanca E, Gnoni GV, Siculella L. Streptozotocin-induced diabetes affects in rat liver citrate carrier gene expression by transcriptional and posttranscriptional mechanisms. Int J Biochem Cell Biol. 2011 Nov;43(11):1621-9. Epub 2011 Jul 27.

240. Guzzetta F, Conti G, Mercuri E. Auditory processing in infancy: do early abnormalities predict disorders of language and cognitive development? Dev Med Child Neurol. 2011 Dec;53(12):1085-90. Epub 2011 Aug 12. Review.

241. Terracciano A, Renaldo F, Zanni G, D'Amico A, Pastore A, Barresi S, Valente EM, Piemonte F, Tozzi G, Carrozzo R, Valeriani M, Boldrini R, Mercuri E, Santorelli FM, Bertini E. The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. Eur J Paediatr Neurol. 2011 Aug 26. [Epub ahead of print]

242. Alfieri P, Cesarini L, De Rose P, Ricci D, Selicorni A, Menghini D, Guzzetta A, Baranello G, Tinelli F, Mallardi M, Zampino G, Vicari S, Atkinson J, Mercuri E. Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity. Am J Med Genet A. 2011 Oct;155A(10): Epub 2011 Sep 9.

243. Klein A, Jungbluth H, Clement E, Lillis S, Abbs S, Munot P, Pane M, Wraige E, Schara U, Straub V, Mercuri E, Muntoni F. Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 Sep;68(9):1171-9.

244. Romeo DM, Guzzardi S, Ricci D, Cilauro S, Brogna C, Cowan F, Romeo MG, Mercuri E. Longitudinal cognitive assessment in healthy late preterm infants. Eur J Paediatr Neurol. 2011 Sep 21.[Epub ahead of print]

245. Romeo DM, Ricci D, Serrao F, Gallini F, Olivieri G, Cota F, Romagnoli C, Mercuri E. Visual function assessment in late-preterm newborns. Early Hum Dev. 2011 Sep 26. [Epub ahead of print]

246. Carboni N, Mura M, Mercuri E, Marrosu G, Manzi RC, Cocco E, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Marini S, Lai C, Politano L, Marrosu MG. Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 2012 Feb;22(2):152-8. Epub 2011 Oct 10.

247. D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011Nov 2;6:71. Review.

248. Mercuri E. Cerebral palsy, brain lesions, and thrombophilic genetic factors. Dev Med Child Neurol. 2012 Feb;54(2):100. Epub 2011 Dec 5. No abstract available

249. D'Amico A, Bertini E, Bianco F, Papacci P, Jacobson L, Vincent A, Mercuri E. Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case report. Neuromuscul Disord. 2012 Feb 6. [Epub 54. Pane M, Lombardo ME, Alfieri P, D'Amico A, Bianco F, Vasco G, Piccini G, Mallardi M, Romeo DM, Ricotti V, Ferlini A, Gualandi F, Vicari S, Bertini E, Berardinelli A, Mercuri E. Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation. J Pediatr. 2012 May 4

250. M. Pane, S. Messina, G. Vasco, AR. Foley , L. Morandi, E. Pegoraro, T. Mongini, A. D’Amico, F. Bianco, M. Lombardo , R. Scalise , C.Bruno, A. Berardinelli , A. Pini, I. Moroni, M. Mora, A. Toscano, M. Moggio, G. Comi, FM. Santorelli, E. Bertini, F. Muntoni, E. Mercuri. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord. 2012 Jun 22.

251. Mazzone ES, Vasco G, Palermo C, Bianco F, Galluccio C, Ricotti V, Castronovo AD, Mauro MS, Pane M, Mayhew A, Mercuri E. A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy. Dev Med Child Neurol. 2012 Jun 19. doi: 10.1111/j.1469-8749.2012.04345

252. Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, Pane M, Previtali SC, Torrente Y, Gazzerro E, Motta MC, Grieco GS, Napolitano S, Magri F, D'Amico A, Astrea G, Messina S, Sframeli M, Vita GL, Boffi P, Mongini T, Ferlini A, Gualandi F, Soraru' G, Ermani M, Vita G, Battini R, Bertini E, Comi GP, Berardinelli A, Minetti C, Bruno C, Mercuri E, Politano L, Angelini C, Hoffman EP, Pegoraro E. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology. 2012 Jun 27.

253. Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A. Genetic characterization in symptomatic female DMD carriers:lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. BMC



Med Genet. 2012 Aug 16;13(1):73.

254. Tasca G, Iannaccone E, Monforte M, Masciullo M, Bianco F, Laschena F, Ottaviani P, Pelliccioni M, Pane M, Mercuri E, Ricci E.Muscle MRI in Becker muscular dystrophy. Neuromuscul Disord. 2012 Oct 1;22

255. Mercuri E, Bertini E. Stem cells in severe infantile spinal muscular atrophy.Neuromuscul Disord. 2012 Dec;22(12):1105. doi: 10.1016/j.nmd.2012.11.001. No abstract available.

256. Mazzone ES, Pane M, Sormani MP, Scalise R, Berardinelli A, Messina S, Torrente Y, D'Amico A, Doglio L, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Bianco F, Magri F, Rossi F, Vasco G, Vita G, Motta MC, Donati MA, Sacchini M, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E. 24month longitudinal data in ambulant boys with duchenne muscular dystrophy. PLoS One. 2013;8(1):e52512. doi: 10.1371/journal.pone.0052512. Epub 2013 Jan 11.

257. Romeo DM, Bruni O, Brogna C, Ferri R, Galluccio C, De Clemente V, Di Jorio M, Quintiliani M, Ricci D, Mercuri E. Application of the Sleep Disturbance Scale for Children (SDSC) in preschool age.Eur J Paediatr Neurol. 2013 Jan 22. doi:pii: S1090-3798(13)00002-0.

258. Romeo DM, Luciano R, Corsello M, Ricci D, Brogna C, Zuppa A, Romagnoli C, Mercuri E. Neonatal neurological examination of late preterm babies. Early Hum Dev. 2013 Feb 2.

259. Catteruccia M, Fattori F, Codemo V, Ruggiero L, Maggi L, Tasca G, Fiorillo C, Pane M, Berardinelli A, Verardo M, Bragato C, Mora M, Morandi L, Bruno C, Santoro L, Pegoraro E, Mercuri E,Bertini E, D'Amico A. Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological,muscle imaging and genetic features of an Italian cohort. Neuromuscul Disord. 2013 Mar;23(3):229-38.

260. Mercuri E, Muntoni F. Muscular dystrophies. Lancet. 2013 Feb 22.

261. Kayadjanian N, Burghes A, Finkel RS, Mercuri E, Rouault F, Schwersenz I, Talbot KSMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe.Orphanet J Rare Dis. 2013 Mar 20;8(1):44.

262. Pane M, Messina S, Bruno C, D'Amico A, Villanova M, Brancalion B, Sivo S, Bianco F, Striano P, Battaglia D, Lettori D, Vita GL, Bertini E, Gualandi F, Ricotti V, Ferlini A, Mercuri E. Duchenne muscular dystrophy and epilepsy. Neuromuscul Disord. 2013 Apr;23(4):313-5

263. Pane M, Scalise R, Berardinelli A, D'Angelo G, Ricotti V, Alfieri P, Moroni I, Hartley L, Pera MC, Baranello G, Cateruccia M, Casalino T, Romeo DM, Graziano A, Gandioli C, Bianco F, Mazzone ES, Lombardo ME, Scoto M, Sivo S, Palermo C, Gualandi F, Sormani MP, Ferlini A, Bertini E, Muntoni F, Mercuri E. Early neurodevelopmental assessment in Duchenne muscular dystrophy.Neuromuscul Disord. 2013 Mar 24.

302. Pane M., Mazzone ES., Sormani MP., Messina S., Vita GL., Fanelli L., Berardinelli A.,Torrente Y., D'Amico A., Lanzillotta V., Viggiano E., D'Ambrosio P., Cavallaro F.,Frosini S., Bello L., Bonfiglio S., Scalise R., De Sanctis R., Rolle E., Bianco F., Van der Haawue M., Magri F., Palermo C., Rossi F., Donati MA., Alfonsi C., Sacchini M., Arnoldi MT., Baranello G., Mongini T., Pini A., Battini R., Pegoraro E., Previtali SC., Napolitano S., Bruno C., Politano L., Comi GP., Bertini E., Morandi L., Gualandi F., Ferlini A., Goemans N., Mercuri E., 6 minute walk test in Duchenne MD patients with different mutations: 12 month changes, PLoS One, 2014 Jan 8

303. Mazzone E., De Sanctis R., Fanelli L., Bianco F., Main M., van den Hauwe M., Ash M., de Vries R., Fagoaga Mata J., Schaefer K., D'Amico A., Colia G., Palermo C., Scoto M.,Mayhew A., Eagle M., Servais L., Vigo M., Febrer A., Korinthenberg R., Jeukens M., de Viesser M., Totoescu A., Voit T., Bushby K., Muntoni F., Goemans N., Bertini E., Pane M., Mercuri E., Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients, Neuromuscul. Disord. 2014 Jan 16

304. Orcesi S., Ariaudo G., Mercuri E., Beghi E., Rezzani C., Balottin U., SOLE NMDs Study Group., A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation ofthe instrument, rationale for its development, and some preliminary results. J. Child Neurol. 2014 Feb; 29 (2); 167-81

305. Pane M., Mazzone ES., Fanelli L., De Sanctis R., Bianco F., Sivo S., D'Amico A.,Messina S., Battini R., Scutifero M., Petillo R., Frosini S., Scalise R., Vita G., Bruno C., Pedemonte M., Mongini T., Pegoraro E., Brustia F., Gardani A., Berardinelli A.,Lanzillotta V., Viggiano E., Cavallaro F., Sframeli M., Bello L., Barp A., Bonfiglio S., Rolle E., Colia G., Catteruccia M., Palermo C., D'Angelo G., Pini A., Iotti E., Gorni K., Baranello G., Morandi L., Bertini E., Politano L., Sormani M., Mercuri E., Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy, Neuromuscul. Disord. 2014 Mar; 24 (3); 201-6

306. Bianco F., Pane M., D'Amico A., Messina S., Delogu AB., Soraru G., Pera MC., Mongini T., Politano L., Baranello G., Vita G., Tiziano FD., Morandi L., Bertini E., Mercuri E., Cardiac function in



types II and III spinal muscular atrophy: should we change standards of care?, Neuropediatrics. 2015 Feb; 46 (1); 33-6; doi: 10.1055/s-0034-1395348; Epub 2014 Dec 24

307. Bianco F., Pane M., D'Amico A., Messina S., Delogu AB., Soraru G., Pera MC., Mongini T., Politano L., Baranello G., Vita G., Tiziano FD., Morandi L., Bertini E., Mercuri E., Cardiac function in types II and III spinal muscular atrophy: should we change standards of care?, Neuropediatrics. 2015 Feb; 46 (1); 33-6; doi: 10.1055/s-0034-1395348; Epub 2014 Dec 24

308. Losito E., Battaglia D., Chieffo D., Raponi M., Ranalli D., Contaldo I., Giansanti C., De Clemente V., Quintiliani M., Antichi E., Verdolotti T., de Waure C., Tartaglione T., Mercuri E., Guzzetta F., Sleep-potentiated epileptiform activity in early thalamic injuries: Study in a large series (60 cases), Epilepsy Res. 2015 Jan; 109:90-9; doi: 10.1016/j.eplepsyres. 2014.10.015;. Epub 2014 Oct 28

309. Sivo S., Mazzone E., Antonaci L., De Sanctis R., Fanelli L., Palermo C., Montes J., Pane M., Mercuri E., Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes, Neuromuscul. Disord. 2015 Mar; 25 (3); 212-5; doi: 10.1016/j.nmd.2014.11.008; Epub 2014 Nov 22.

310. Monforte M., Mercuri E., Laschena F., Ricci E., Tasca G., Calf muscle involvement in Becker muscular dystrophy: when size does not matter, J. Neurol Sci. 2014 Dec 15; 347 (1-2); 301-4. doi: 10.1016/j.jns.2014.10.030; Epub 2014 Oct 22

311. De Sanctis R., Pane M., Sivo S., Ricotti V., Baranello G., Frosini S., Mazzone E., Bianco F., Fanelli L., Main M., Corlatti A., D'Amico A., Colia G., Scalise R., Palermo C., Alfonsi C., Tritto G., Romeo DM., Graziano A., Battini R., Morandi L., Bertini E., Muntoni F., Mercuri E., Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy, Neuromuscul. Disord. 2015 Jan; 25 (1); 14-8; doi: 10.1016/j. nmd. 2014.09.015; Epub 2014 Oct 6

312. Lynn S., Aartsma-Rus A., Bushby K., Furlong P., Goemans N., De Luca A., Mayhew A., McDonald C., Mercuri E., Muntoni F., Pohlschmidt M., Verschuuren J., Voit T., Vroom E., Wells DJ, Straub V., Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy, Neuromuscul. Disord. 2015 Jan; 25 (1); 96-105; doi: 10.1016/j.nmd.2014.09.003;Epub 2014 Sep 11

313. Maggi L., D'Amico A., Pini A., Sivo S., Pane M., Ricci G., Vercelli L., D'Ambrosio P., Travaglini L., Sala S., Brenna G., Kapetis D., Scarlato M., Pegoraro E., Ferrari M., Toscano A., Benedetti S., Bernasconi P., Colleoni L., Lattanzi G., Bertini E., Mercuri E., Siciliano G., Rodolico C., Mongini T., Politano L., Previtali SC., Carboni N., Mantegazza R., Morandi L., LMNA-associated myopathies: the Italian experience in a large cohort of patients, Neurology 2014 Oct 28; 83 (18); 1634-44; doi: 10.1212/WNL 0000000000000934; Epub 2014 Oct 1

314. Pane M., Mazzone ES., Sivo S., Sormani MP., Messina S., D'Amico A., Carlesi A., Vita G., Fanelli L., Berardinelli A., Torrente Y., Lanzillotta V., Viggiano E., D Ambrosio P., Cavallaro F., Frosini S., Barp A., Bonfiglio S., Scalise R., De Sanctis R., Rolle E., Graziano A., Magri F., Palermo C., Rossi F., Donati MA., Sacchini M., Arnoldi MT., Baranello G., Mongini T., Pini A., Battini R., Pegoraro E., Previtali S., Bruno C., Politano L., Comi GP., Bertini E., Mercuri E., Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes, PLoS One 2014 Oct 1; 9 (10);e108205; doi; 10.1371/journal pone 0108205; e Collection 2014; Erratum in: PLoS One 2015; 10 (3); e 0121882; PLoS One 2015; 10 (12); e 0144079

315. Brogna C., De Rose P., Sivo S., Laganà V., Graziano A., Alfonsi C., Albamonte E., Gallini F., Serrao F., Romeo DM., Frezza S., Papacci P., Romagnoli C., Mercuri E., Ricci D., Longitudinal assessment of perceptual-motor abilities in pre-school preterm children, Early Hum. Dev. 2014 Oct; 90(10); 645-7; doi: 10.1016/j.earlhumdev.; 2014.08.001; Epub 2014 Aug 29

316. Tasca G., Evilä A., Pane M., Monforte M., Graziano A., Hackman P., Mercuri E., Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L, Udd. B.,Neuromuscul. Disord. 2014 Dec; 24 (12); 1118-9; doi: 10.1016/j.nmd. 2014.06.442; Epub 2014 Jul 9

317. Luigetti M., Taroni F., Milani M., Del Grande A., Romano A., Bisogni G., Conte A., Contaldo I., Mercuri E., Sabatelli M., Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation, J. Neurol. Sci. 2014 Oct 15; 345 (1-2); 271-3; doi: 10.1016/j.jns. 2014.07.042; Epub 2014 Jul 30

318. Romeo DM, Brogna C, Musto E, Baranello G, Pagliano E, Casalino T, Ricci D, Mallardi M, Sivo S, Cota F, Battaglia D, Bruni O, Mercuri E., Sleep disturbances in preschool age children with cerebral palsy: a questionnaire study, Sleep Med. 2014 Sep;15 (9);1089-93; doi: 10.1016/j.sleep. 2014.05.008;Epub 2014 May 23

319. Bushby K., Finkel R., Wong B., Barohn R., Campbell C., Comi GP., Connolly AM., Day JW., Flanigan KM., Goemans N., Jones KJ., Mercuri E., Quinlivan R., Renfroe JB., Russman B., Ryan MM., Tulinius M., Voit T., Moore SA., Lee Sweeney H., Abresch RT., Coleman KL., Eagle M., Florence



J., Gappmaier E., Glanzman AM., Henricson E., Barth J., Elfring GL., Reha A., Spiegel RJ., O'donnell MW., Peltz SW., Mcdonald CM., Ataluren treatment of patients with nonsense mutation dystrophinopathy, PTC124-GD-007-DMD STUDY GROUP; Muscle Nerve, 2014 Oct; 50 (4); 477-87, doi: 10.1002/mus. 24332

320. Battini R., Casarano M., Sgandurra G., Olivieri I., Di Pietro R., Romeo DM., Mercuri E., Cioni G., Responsiveness of the MD-childhood rating scale in dyskinetic cerebral palsy patients undergoing anticholinergic treatment, Eur J. Paediatr. Neurol. 2014 Nov;18 (6); 698-703 doi: 10.1016/j. ejpn. 2014.06.004; Epub 2014 Jun 19

321. Tasca G., Monforte M., Iannaccone E., Laschena F., Ottaviani P., Leoncini E., Boccia S., Galluzzi G., Pelliccioni M., Masciullo M., Frusciante R., Mercuri E., Ricci E., Upper girdle imaging in facioscapulohumeral muscular dystrophy, PLoS One 2014 Jun 16; 9 (6); e 100292 doi: 10.1371/journal pone 0100292 e Collection 2014

322. Marttila M., Lehtokari VL., Marston S., Nyman TA., Barnerias C., Beggs AH., Bertini E., Ceyhan-Birsoy O, Cintas P, Gerard M., Gilbert-Dussardier B., Hogue JS., Longman C., Eymard B., Frydman M.., Kang PB.., Klinge L.., Kolski H., Lochmüller H., Magy L., Manel V., Mayer M., Mercuri E., North KN., Peudenier-Robert S., Pihko H., Probst FJ., Reisin R., Stewart W., Taratuto AL., de Visser M., Wilichowski E., Winer J., Nowak K., Laing NG., Winder TL., Monnier N., Clarke NF., Pelin K., Grönholm M., Wallgren-Pettersson C., Mutation update and genotype-phenotype correlations of noveland previously described mutations in TPM2 and TPM3 causing congenital myopathies, Hum Mutat. 2014 Jul; 35 (7):779-90. doi: 10.1002/humu.22554; Epub 2014 May 1

323. Bönnemann CG., Wang CH., Quijano-Roy S., Deconinck N., Bertini E., Ferreiro A., Muntoni F., Sewry C., Béroud C., Mathews KD., Moore SA., Bellini J., Rutkowski A., North KN., Diagnostic approach to the congenital muscular dystrophies, Members of International Standard of Care Committee for Congenital Muscular Dystrophies, Neuromuscul. Disord. 2014 Apr; 24 (4): 289-311. doi: 10.1016/j.nmd. 2013.12.011; Epub 2014 Jan 9

324. Alfieri P., Piccini G., Caciolo C., Perrino F., Gambardella ML., Mallardi M., Cesarini L., Leoni C., Leone D., Fossati C., Selicorni A., Digilio MC., Tartaglia M., Mercuri E., Zampino G., Vicari S., Behavioral profile in RASopathies, Am J. Med. Genet. A. 2014 Apr; 164A (4); 934-42. doi: 10.1002/ajmg 36374; Epub 2014 Jan 23

325. Pane M., Mazzone ES., Sivo S., Fanelli L., De Sanctis R., D'Amico A., Messina S., Battini R., Bianco F., Scutifero M., Petillo R., Frosini S., Scalise R., Vita GL., Bruno C., Pedemonte M., Mongini T., Pegoraro E., Brustia F., Gardani A., Berardinelli A., Lanzillotta V., Viggiano E., Cavallaro F., SframeliM., Bello L., Barp A., Busato F., Bonfiglio S., Rolle E., Colia G., Bonetti A., Palermo C., Graziano A., D'Angelo G., Pini A., Corlatti A., Gorni K., Baranello G., Antonaci L., Bertini E., Politano L., Mercuri E., The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys, PLoS Curr. 2014 Oct 7; 6 pii; ecurrents md.a 93d9904d57 dcb08936f2 ea 89 bca 6 fe6; doi; 10.1371/currents md a93d9904d57 dcb 08936f2 ea 89 bca 6 fe 6.

2015

326. Ricotti V., Mandy WP., Scoto M., Pane M., Deconinck N., Messina S., Mercuri E., Skuse DH., Muntoni F., Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations, Dev Med Child Neurol., 2015 Sep 14; doi

327. Chieffo D., Brogna C., Berardinelli A., D'Angelo G., Mallardi M., D'Amico A., Alfieri P., Mercuri E., Pane M., Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study, PLoS One, 2015 Aug 14; 10 (8)

328. Pane M., Fanelli L., Mazzone ES., Olivieri G., D'Amico A., Messina S., Scutifero M., Battini R., Petillo R., Frosini S., Sivo S., Vita GL., Bruno C., Mongini T., Pegoraro E., De Sanctis R., Gardani A., Berardinelli A., Lanzillotta V., Carlesi A., Viggiano E., Cavallaro F., Sframeli M., Bello L., Barp A., Bianco F., Bonfiglio S., Rolle E., Palermo C., D'Angelo G., Pini A., Iotti E., Gorni K., Baranello G., Bertini E., Politano L., Sormani MP., Mercuri E., Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test, Neuromuscul Disord. , 2015 Oct; 25 (10);749-53

329. Mazzone E., Montes J., Main M., Mayhew A., Ramsey D., Glanzman AM., Dunaway S., Salazar R., Pasternak A., Quigley J., Pane M., Pera MC., Scoto M., Messina S., Sframeli M., D'amico A., Van Den Hauwe M., Sivo S., Goemans N., Darras BT., Kaufmann P., Bertini E., De Vivo DC., Muntoni F., Finkel R., Mercuri E., Old measures and new scores in spinal muscular atrophy patients, Muscle Nerve, 2015 Sep; 52 (3); 435-7

330. Montes J., Glanzman AM., Mazzone ES., Martens WB., Dunaway S., Pasternak A., Riley SO., Quigley J., Pandya S., De Vivo DC., Kaufmann P., Chiriboga CA., Finkel RS., Tennekoon GI., Darras BT., Pane M., Mercuri E., Mcdermott MP., Pediatric Neuromuscular Clinical Research Network, Muscle Study Group, SMA Europe. Spinal muscular atrophy functional composite score: A functional



measure in spinal muscular atrophy, Muscle Nerve, 2015 Apr 3

331. Ricotti V., Ridout DA., Pane M., Main M., Mayhew A., Mercuri E., Manzur AY., Muntoni F., On behalf of UK NorthStar Clinical Network The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials, J. Neurol Neurosurg Psychiatry; 2015 Mar 2

332. Pane M., Mazzone ES., Sivo S., Sormani MP., Messina S., D'Amico A., Carlesi A., Vita G., Fanelli L., Berardinelli A., Torrente Y., Lanzillotta V., Viggiano E., D'Ambrosio P., Cavallaro F., Frosini S., Barp A., Bonfiglio S., Scalise R., De Sanctis R., Rolle E., Graziano A., Magri F., Palermo C., Rossi F., Donati MA., Sacchini M., Arnoldi MT., Baranello G., Mongini T., Pini A., Battini R., Pegoraro E., Previtali S., Bruno C., Politano L., Comi GP., Bertini E., Mercuri E., Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes, PLoS One; 2015 Dec 4; 10 (12)

333. Fattori F., Maggi L., Bruno C., Cassandrini D., Codemo V., Catteruccia M., Tasca G., Berardinelli A., Magri F., Pane M., Rubegni A., Santoro L., Ruggiero L., Fiorini P., Pini A., Mongini T., Messina S., Brisca G., Colombo I., Astrea G., Fiorillo C., Bragato C., Moroni I., Pegoraro E., D'Apice MR., Alfei E., Mora M., Morandi L., Donati A., Evilä A., Vihola A., Udd B., Bernansconi P., Mercuri E., Santorelli FM., Bertini E., D'Amico A., Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian color, J. Neurol., 2015 Jul; 262 (7); 1728-40; doi: 10.1007/s 00415-015-7757-9; Epub 2015 May 10

334. Mercuri E., Muntoni F., Efficacy of idebenone in Duchenne muscular dystrophy, Lancet., 2015 May 2; 385 (9979);1704-6. doi: 10.1016/S0140-6736 (15) 60758-9; Epub 2015 Apr 20

335. Astrea G, Munteanu I, Cassandrini D, Lillis S, Trovato R, Pegoraro E, Cioni G, Mercuri E, Muntoni F, Battini R., A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance, Pediatr Neurol., 2015 May; 52 (5); 548-51; doi: 10.1016/j; pediatrneurol., 2015.01.018; Epub 2015 Feb 7

336. Cafiero C., Marangi G., Orteschi D., Ali M., Asaro A., Ponzi E., Moncada A., Ricciardi S., MurdoloM., Mancano G., Contaldo I., Leuzzi V., Battaglia D., Mercuri E., Slavotinek AM., Zollino M., Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome, Eur J Hum Genet., 2015 Nov; 23 (11); 1499-504; doi: 10.1038/ejhg, 2015, 19, Epub 2015 Feb 25

337. Graziano A., Bianco F., D'Amico A., Moroni I., Messina S., Bruno C., Pegoraro E., Mora M., Astrea G., Magri F., Comi GP., Berardinelli A., Moggio M., Morandi L., Pini A., Petillo R., Tasca G., Monforte M., Minetti C., Mongini T., Ricci E., Gorni K., Battini R., Villanova M., Politano L., Gualandi F., Ferlini A., Muntoni F., Santorelli FM., Bertini E., Pane M., Mercuri E., Prevalence of congenital muscular dystrophy in Italy: a population study, Neurology, 2015 Mar 3; 84 (9); 904-11. doi: 10.1212/WNL.0000000000001303, Epub 2015 Feb 4

338. Scoto M., Rossor AM., Harms MB., Cirak S., Calissano M., Robb S., Manzur AY., Martínez Arroyo A., Rodriguez Sanz A., Mansour S., Fallon P., Hadjikoumi I., Klein A., Yang M., De Visser M., Overweg-Plandsoen WC., Baas F., Taylor JP., Benatar M., Connolly AM., Al-Lozi MT., Nixon J-, de Goede CG., Foley AR., Mcwilliam C., Pitt M., Sewry C., Phadke R., Hafezparast M., Chong WK., Mercuri E., Baloh RH., Reilly MM., Muntoni F., Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy, Neurology, 2015 Feb 17; 84(7); 668-79; doi: 10.1212/WNL; 0000000000001269; Epub 2015 Jan 21

339. Zollino M., Marangi G., Ponzi E., Orteschi D., Ricciardi S., Lattante S., Murdolo M., Battaglia D., Contaldo I., Mercuri E., Stefanini MC., Caumes R., Edery P., Rossi M., Piccione M., Corsello G., Della Monica M., Scarano F., Priolo M., Gentile M., Zampino G., Vijzelaar R., Abdulrahman O., Rauch A., Oneda B., Deardorff MA., Saitta SC., Falk MJ., Dubbs H., Zackai E., Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients, J Med Genet., 2015 Dec; 52 (12); 804-14

340. Luciano R., Fracchiolla A., Ricci D., Cota F., D'Andrea V., Gallini F., Papacci P., Mercuri E., Romagnoli C., Are high cumulative doses of erythropoietin neuroprotective in preterm infants? A two year follow-up report, Ital J Pediatr., 2015 Sep 17; 41:64

341. Romeo DM., Ricci D., Brogna C., Mercuri E., Use of the Hammersmith Infant Neurological Examination in infants with cerebral palsy: a critical review of the literature, Dev Med Child Neurol. 2016 Mar; 58 (3): 240-5. doi: 10.1111/dmcn.12876. Epub 2015 Aug 25. Review

342. Ricotti V., Mandy WP., Scoto M., Pane M., Deconinck N., Messina S., Mercuri E., Skuse DH, Muntoni F., Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations., Dev Med Child Neurol. 2016 Jan; 58(1):77-84. doi: 10.1111/dmcn.12922. Epub 2015 Sep 14

343. Finkel R., Bertini E., Muntoni F., Mercuri E., ENMC SMA Workshop Study Group, 209th ENMC



International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands, Neuromuscul Disord. 2015 Jul;25(7):593-602. doi: 10.1016/j.nmd.2015.04.009. Epub 2015 Apr 28

2016

344. Messina S., Vita GL., Sframeli M., Mondello S., Mazzone E., D'Amico A., Berardinelli A., La RosaM., Bruno C., Distefano MG., Baranello G., Barcellona C., Scutifero M., Marcato S., Palmieri A., Politano L., Morandi L., Mongini T., Pegoraro E., D'Angelo MG., Pane M., Rodolico C., Minetti C., Bertini E., Vita G., Mercuri E., Health-related quality of life and functional changes in DMD: A 12-monthlongitudinal cohort study, Neuromuscul Disord., 2016 Feb 2

345. Mercuri E., Finkel R., Montes J., Mazzone ES., Sormani MP., Main M., Ramsey D., Mayhew A., Glanzman AM., Dunaway S., Salazar R., Pasternak A., Quigley J., Pane M., Pera MC., Scoto M., Messina S., Sframeli M., Vita GL., D'Amico A., van den Hauwe M., Sivo S., Goemans N., Kaufmann P., Darras BT., Bertini E., Muntoni F., De Vivo DC., Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials, Neuromuscul Disord. 2016 Feb; 26 (2);126-31

346. Mercuri E., Daniel AL., Hecke MB., Carvalho L., Influence of different mechanical stimuli in a multi-scale mechanobiological isotropic model for bone remodelling, Med Eng Phys., 2016 May 20. pii: S1350-4533 (16) 30074-1

347. Piga D., Magri F., Ronchi D., Corti S., Cassandrini D., Mercuri E., Tasca G., Bertini E., Fattori F., Toscano A., Messina S., Moroni I., Mora M., Moggio M., Colombo I., Giugliano T., Pane M., Fiorillo C., D'Amico A., Bruno C., Nigro V., Bresolin N., Comi GP., New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients, J. Mol Neurosc., 2016 Apr 22

348. Romeo DM., Sini F., Brogna C., Albamonte E., Ricci D., Mercuri E., Sex differences in cerebral palsy on neuromotor outcome: a critical review, Dev Med Child Neurol., 2016 Apr 21

349. Mercuri E., DMD Italian Group, Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? Neuromuscul Disord., 2016 Apr-May; 26 (4-5); 261-3, doi

350. Martinez-Biarge M., Cheong JL., Diez-Sebastian J., Mercuri E., Dubowitz LM., Cowan FM., Risk Factors for Neonatal Arterial Ischemic Stroke: The Importance of the Intrapartum Period., J Pediatr., 2016 Jun; 173; 62-68

351. Mazzone ES., Coratti G., Sormani MP., Messina S., Pane M., D'Amico A., Colia G., Fanelli L., Berardinelli A., Gardani A., Lanzillotta V., D'Ambrosio P., Petillo R., Cavallaro F., Frosini S., Bello L., Bonfiglio S., De Sanctis R., Rolle E., Forcina N., Magri F., Vita G., Palermo C., Donati MA., Procopio E., Arnoldi MT., Baranello G., Mongini T., Pini A., Battini R., Pegoraro E., Torrente Y., Previtali SC., Bruno C., Politano L., Comi GP., D'Angelo MG., Bertini E., Mercuri E., Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study, PLoS One, 2016 Mar 16; 11 (3)

352. Micalizzi A., Poretti A., Romani M., Ginevrino M., Mazza T., Aiello C., Zanni G., Baumgartner B., Borgatti R., Brockmann K., Camacho A., Cantalupo G., Haeusler M., Hikel C., Klein A., Mandrile G., Mercuri E., Rating D., Romaniello R., Santorelli FM., Schimmel M., Spaccini L., Teber S., von Moers A., Wente S., Ziegler A., Zonta A., Bertini E., Boltshauser E., Valente EM., Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome), Eur J Hum Genet., 2016 Mar 2

353. Messina S., Vita GL., Sframeli M., Mondello S., Mazzone E., D'Amico A., Berardinelli A., La RosaM., Bruno C., Distefano MG., Baranello G., Barcellona C., Scutifero M., Marcato S., Palmieri A., Politano L., Morandi L., Mongini T., Pegoraro E., D'Angelo MG., Pane M., Rodolico C., Minetti C., Bertini E., Vita G., Mercuri E., Health-related quality of life and functional changes in DMD: A 12-monthlongitudinal cohort study , Neuromuscul Disord., 2016 Mar; 26 (3); 189-96

354. Olivieri G., Battaglia D., Chieffo D., Rubbino R., Ranalli D., Contaldo I., Dravet C., Mercuri E., Guzzetta F., Cognitive-behavioral profiles in teenagers with Dravet syndrome, Brain Dev., 2016 Jun; 38 (6); 554-62.

355. Chieffo D., Battaglia D., Lucibello S., Gambardella ML., Moriconi F., Ferrantini G., Leo G., Dravet C., Mercuri E., Guzzetta F., Disorders of early language development in Dravet syndrome, Epilepsy Behav., 2016 Jan; 54; 30-3

356. Mendell JR., Goemans N., Lowes LP., Alfano LN., Berry K., Shao J., Kaye EM., Mercuri E., Eteplirsen Study Group and Telethon Foundation DMD Italian Network. Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy, Ann Neurol., 2016Feb; 79 (2); 257-71

357. Straub V., Balabanov P., Bushby K., Ensini M., Goemans N., De Luca A., Pereda A., Hemmings R., Campion G., Kaye E., Arechavala-Gomeza V., Goyenvalle A., Niks E., Veldhuizen O., Furlong P.,



Stoyanova-Beninska V., Wood MJ., Johnson A., Mercuri E., Muntoni F., Sepodes B., Haas M., Vroom E., Aartsma-Rus A., Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy, Lancet Neurol., 2016 Jul; 15 (8): 882-90.doi: 10.1016/S 1474-4422 (16) 30035-7. Review

358. Savarese M., Di Fruscio G., Torella A., Fiorillo C., Magri F., Fanin M., Ruggiero L., Ricci G., Astrea G., Passamano L., Ruggieri A., Ronchi D., Tasca G., D'Amico A., Janssens S., Farina O., Mutarelli M., Marwah VS., Garofalo A., Giugliano T., Sanpaolo S., Del Vecchio Blanco F., Esposito G., Piluso G., D'Ambrosio P., Petillo R., Musumeci O., Rodolico C., Messina S., Evilä A., Hackman P., Filosto M., Di Iorio G., Siciliano G., Mora M., Maggi L., Minetti C., Sacconi S., Santoro L., Claes K., Vercelli L., Mongini T., Ricci E., Gualandi F., Tupler R., De Bleecker J., Udd B., Toscano A., Moggio M.,Pegoraro E., Bertini E., Mercuri E., Angelini C., Santorelli FM., Politano L., Bruno C., Comi GP., Nigro V., The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients, Neurology, 2016 Jun 8

359. Mercuri E., Signorovitch JE., Swallow E., Song J., Ward SJ., DMD Italian Group, Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy, Trajectory Analysis Project (cTAP), Neuromuscul Disord. 2016 May 27. pii: S0960-8966(16)30076-1. doi: 10.1016/j.nmd.2016.05.016. [Epub ahead of print]

360. Romeo DM., Lucibello S., Musto E., Brogna C., Ferrantini G., Velli C., Cota F., Ricci D., Mercuri E., Assessing Joint Hypermobility in Preschool-Aged Children, J Pediatr. 2016 Jun 20. pii: S0022-3476(16)30346-8. doi: 10.1016/j.jpeds.2016.05.072. [Epub ahead of print]

361. Fiorillo C., Astrea G., Savarese M., Cassandrini D., Brisca G., Trucco F., Pedemonte M., Trovato R., Ruggiero L., Vercelli L., D'Amico A., Tasca G., Pane M., Fanin M., Bello L., Broda P., Musumeci O.,Rodolico C., Messina S., Vita GL., Sframeli M., Gibertini S., Morandi L., Mora M., Maggi L., Petrucci A., Massa R., Grandis M., Toscano A., Pegoraro E., Mercuri E., Bertini E., Mongini T., Santoro L., Nigro V., Minetti C., Santorelli FM., Bruno C., MYH7-related myopathies: clinical, histopathological andimaging findings in a cohort of Italian patients, Italian Network on Congenital Myopathies, Orphanet J. Rare Dis., 2016 Jul 7; 11(1); 91; doi; 10.1186/s13023-016-0476

362. Mercuri E., Coratti G., Messina S., Ricotti V., Baranello G., D'Amico A., Pera MC., Albamonte E., Sivo S., Mazzone ES., Arnoldi MT., Fanelli L., De Sanctis R., Romeo DM., Vita GL., Battini R., Bertini E., Muntoni F., Pane M., Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy, PLoS One, 2016 Aug 5; 11 (8);e0160195; doi; 10.1371/journal. pone.0160195. eCollection 2016

363. Falzarano MS., D'Amario D., Siracusano A., Massetti M., Amodeo A., La Neve F., Maroni CR., Mercuri E., Osman H., Scotton C., Armaroli A., Rossi R., Selvatici R., Crea F., Ferlini A., DMD myogenic cells from urine-derived stem cells recapitulate the dystrophin genotype and phenotype, Hum. Gene. Ther., 2016 Aug 16; [Epub ahead of print]

364. Bettica P., Petrini S., D'Oria V., D'Amico A., Catteruccia M., Pane M., Sivo S., Magri F.,

Brajkovic S., Messina S., Vita GL., Gatti B., Moggio M., Puri PL., Rocchetti M., De Nicolao G., Vita G., Comi GP., Bertini E., Mercuri E., Histological effects of givinostat in boys with Duchenne muscular dystrophy, Neuromuscul. Disord., 2016 Jul 11; pii; S0960-8966(16)30069-4, d

365. Bello L., Flanigan KM., Veis RB., United Dystrophynopathy Project, Spitali P., Aartsma-Rus A., Muntoni F., Zaharieva I., Ferlini A., Mercuri E., Tuffery-Giraud S., Claustres M., Straub V., Lochmuller H., Barp A., Vianello S., Pegoraro E., Punetha J., Gordish-Dressman H., Giri M., McDonald CM., Hoffman EP., Cooperative International Neuromuscular Research Group, Association Stydy of Exon Variantes in the NF-kB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy, Am J Hum Genet, 2016 Nov 3; 99 (5); 1163-1171; doi; 10.1016/j.ajhg. 2016.08.023. Epub 2016 Oct 13

2017

366. D'Amico A., Catteruccia M., Baranello G., Politano L., Govoni A., Privitali SC., Pane M., D’AngeloMG., Bruno C., Messina S., Ricci F., Pegoraro E., Pini A., Berardinelli A., Gorni K., Battini R., Vita G., Trucco F., Scutifero M., Petillo R., D’Ambrosio P., Ardissone A., Pasanisi B., Magri F., Vita G., Mongini T., Moggio M., Comi GP., Mercuri E., Bertini E., Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements, Neuromuscul. Disord., 2017 May; pii; S0960-8966(16)30798-2, doi; 10.1016/j. nmd. 2017. 02.006, Epub 2017 Febr 14

367. Klingels K., Mayhew AG., Mazzone ES., Duong T., Dedcostre V., Werlauff U., Vroom E., Mercuri E., Goemans NM., Upper Limb Clinical Outcome Group., Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM, Dev Med Child Neurol., 2017 Feb; 59 (2); 224-231. doi; 10.1111/dmcn. 13277. Epub 2016 Sep. 26

368. Pera MC., Coratti G., Forcina N., Mazzone ES., Scoto M., Montes J., Pasternak A., Mayhew A., Messina S., Sframeli M., Main M., Lofra RM., Duong T., Ramsey D., Dunaway S., Salazar R., Fanelli



R., Civitello M., de Sanctis R., Antonaci L., Lapenta L., Lucibello S., Pane M., Day J., Darras BT., De Vivo DC., Muntoni F., Finkel R., Mercuri E., Content validity and clinical maningfulness of the HFMSE in spinal muscular atrophy, BMC Neurol., 2017 Feb. 23; 17 (1); 39. doi; 10.1186/s 12883-017-0790-9

369. Ramsey D., Scoto M., Mayhew A., Main M., Mazzone ES., Montes J., de Sanctis R., Dunaway Young S., Salazar R., Glanzman AM., Pasternak A., Quigley J., Mirek E., Duong T., Gee R., Civitello M., Tennekoon G., Pane M., Pera MC., Bushby K., Day J., Darras BT., De Vivo D., Finkel R., Mercuri E., Muntoni F., Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool, PLoS One; 2017 Feb 21; 12 (2); E0172346. doi; 10. 1371/ Journal. pone. 0172346. eCollection 2017

370. Pera MC., Romeo DM., Graziano A., Palermo C., Messina S., Baranello G., Coratti G., Massaro M., Sivo S., Arnoldi MT., Mazzone ES., Antonaci L., Lapenta L., Albamonte E., Fanelli L., de Sanctis R., Vita GL., Sframeli M., Pane M., Mercuri E., Sleep disorders in spinal muscular atrophy, Sleep Med;2017 Feb; 30; 160-163. doi 10.1016/j.sleep. 2016. 11.012; Epub 2016 Nov. 30

371. Aartsma-Rus A., Balabanov P., Binetti L., Haas M., Haberkamp M., Mitcell J., Rosa MM., Muntoni F., Finkel R., Mercuri E., Stakeholder collaboration for spinal muscular atrophy therapy development, Lancet Neurol., 2017 Apr 16, (4) 264. doi; 10.1016/S1474-4422 (17) 30041-8

372. Romeo DM, Bompard S., Cocca C., Serrao F., De Carolis MP., Zuppa AA., Ricci D., Gallini., Maddaloni C., Romagnoli C., Mercuri E., Neonatal neurological examination during the first 6h after birth, Early Hum. Dev.; 2017 May; 108; 41-44. doi: 10.1016/j.earlhumdev. 2017.03.013; Epub 2017 Apr. 5

373. Mercuri E., Signorovitch JE., Swallow E., Song J., Ward SJ., DMD Italian Group, collaborative Trajectory Analysis Project (cTAP), Corrigendum ti “Categorizing natural History trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy” [Neuromuscular Disorders 26/9 (2016) 576-583], Neuromuscul Disord.; 2017 May; 27(5); e1; doi; 10.1016/j. nmd. 2017. 01.004; Epub 2017 Mar 8. No abstract available

374. Scoto M., Finkel RS., Mercuri E., Muntoni F., Therapeutic approaches for spinal muscular atrophy (SMA), Gene Ther.; 2017 May 31; doi; 10.1038/gt. 2017. 45. [Epub ahead of print] Review

375. Finkel RS., Sejersen T., Mercuri E., ENMC SMA Workshop Study Group, 218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016, Neuromuscul Disord; 2017 Jun; 27 (6): 596-605; doi; 10.1016/j.nmd. 2017. 02.014; Epub 2017 Mar 2. No abstract available

376. Nasca A., Scotton C., Zaharieva I., Neri M., Selvatici R., Magnusson OT., Gal A., Weaver D., Rossi R., Armaroli A., Pane M., Phadke R., Sarkozy A., Muntoni F., Hughes I., Cecconi A., Hajnoczky G., Donati A., Mercuri E., Zeviani M., Ferlini A., Ghezzi D., Recessive mautations in MSTO1 cause mitochondrial dynamics impairment, leadind to myopathy and ataxia, Hum. Mutat.; 2017 Aug; 38 (8); 970-977; doi; 10.1002/humu. 23262; Epub 2017 Jun 6

377. Mazzone ES., Mayhew A., Montes J., Ramsey D., Fanelli L., Young SD., Salazar R., de Sanctis R., Pasternak A., Glanzman A., Coratti G., Civitello M., Forcina N., Gee R., Duong T., Pane M., Scoto M., Pera MC., Messina S., Tennekoon G., Day JW., Darras BT., De Vivo DC., Muntoni F., Mercuri E., Revised upper limb module for spinal muscular atrophy: Development of a new module, Muscle Nerve; 2017 Jun; 55 (6); 869-874; doi; 10.1002/mus. 25430; Epub 2017 Feb. 6

378. D’Amario D., Amodeo A., Adorisio R., Tiziano FD., Leone AM., Perri G., Bruno P., Massetti M., Ferlini A., Pane M., Niccoli G., Porto I., D’Angelo GA., Borovac JA., Mercuri E., Crea F., A current approach to heart failure in Duchenne muscular distrophy, Heart, 2017 Jul 1; pii: heartjnl-2017-311269; doi; 10.1136/heartjnl-2017-311269; [Epub ahead of print] Review

379. McDonald CM., Campbell C., Torricelli RE., Finkel RS., Flanigan KM., Goemans N., HeydemannP., Kaminska A., Kirschner J., Muntoni F., Osorio AN., Schara U., Sejersen T., Shieh PB., Sweeney HL., Topaloglu H., Tulinius M., Vilchez JJ., Voit T., Wong B., Elfring G., Kroger H., Luo X., McIntosh J., Ong T., Riebling P., Souza M., Spiegel RJ., Peltz SW., Mercuri E., Clinical Evaluator training Group, ACT DMD Study Group, Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomized, double-blind, placebo-controlled phase 3 trial, Lancet; 2017 Jul 17; pii: S0140-6736 (17) 31611-2; doi: 10.1016/S0140-6736 (17) 31611-2; [Epub ahead of print]

380. Bertini E., Dessaud E., Mercuri E., Muntoni F., Kirschner J., Reid C., Lusakowska A., Comi GP., Cuisset JM., Abitbol JL., Scherrer B., Ducray PS., Buchbjerg J., Vianna E., van der Pol WL., Vuillerot C., Blaettler T., Fontoura P., Olesoxime SMA Phase 2 Study Investigators, Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomized, double-blind, placebo-controlled phase 2 trial, Lancet Neurol.; 2017 Jul; 16(7): 513-522; doi: 10.1016/S1474-4422(17)30085-6; Epub 2017 Apr 28

381. Lepore D., Quinn GE., Molle F., Orazi L., Baldascino A., Ji MH. Sammartino M., Sbaraglia F., Ricci D., Mercuri E., Follow-up to Age 4 Years of Treatment of Type 1 Retinopathy of Prematurity



Intravitreal Bevacizumab Injection versus Laser: Fluorescein Angiographic Findings, Ophthalmology; 2017 Aug 31; pii: S0161-6420(17)31224-1; doi: 10.1016/j. ophtha. 2017.08.005. [Epub ahead of print];PMID: 28867130

382. Tasca G., Monforte M., Diaz-Manera J., Brisca G., Semplicini C., D’Amico A., Fattori F., Pichiecchio A., Berardinelli A., Maggi L., Maccagno E., Lokken N., Marini-Bettolo C., Munell F., Sanchez A., Alshaikh N., Voermans NC., Dastgir J., Vlodavets D., Haberlova J., Magnano G., Walter MC., Quijano-Roy S., Carlier RY, van Engelen BGM., Vissing J., Straub V., Bonnemann CG., Mercuri E., Muntoni F., Pegoraro E., Bertini E., Udd B., Ricci E., Bruno C., MRI in sarcoglycanopathies: a largeinternational cohort study, J Neurol Neurosurg Psychiatry; 2017 Sep 9; pii: jnnp-2017-316736; doi:10.1136/jnnp-2017-316736

383. Messina S, Pane M, Sansone V, Bruno C, Catteruccia M, Vita G, Palermo C, Albamonte E, Pedemonte M, Bertini E, Binetti L, Mercuri E; Italian EAP working Group., Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience, Neuromuscul Disord. 2017 Sep 21. pii: S0960-8966(17)31211-7. doi: 10.1016/j.nmd.2017.09.006. [Epub ahead of print] No abstract available

384. Zollino M., Lattante S., Orteschi D., Frangella S., Doronzio PN., Contaldo I., Mercuri E., Marangi G., Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Resultfrom the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples; Front Neurosci.; 2017 Oct; 18; 11:587; doi: 10.3389/fnins.2017; 00587; eCollection 2017; Review; PMID: 29093661

385. Pera MC., Luigetti M., Pane M., Coratti G., Forcina N., Fanelli L., Mazzone ES., Antonaci L., Lapenta L., Palermo C., Ranalli D., Granata G., Lomonaco M., Servidei S., Mercuri E., 6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction., Neuromuscul Disord.; 2017 Oct; 27 (10); 879-882; doi: 10.1016/j.nmd. 2017.07.007; Epub 2017 Jul 14,Review; PMID: 28803817

386. Pane M., Lapenta L., Abiusi E., de Sanctis R., Luigetti M., Palermo C., Ranalli D., Fiori S., TizianoFD., Mercuri E., Longitudinal assessments in discordant twins with SMA. Neuromuscul Disord. 2017 Oct; 27(10); 890-893;. doi: 10.1016/j.nmd. 2017. 06.559; Epub 2017 Jul 8; PMID: 28797588

387. Aartsma-Rus A., Straub V., Hemmings R., Haas M., Schlosser-Weber G., Stoyanova-Beninska V., Mercuri E., Muntoni ., Sepodes B., Vroom E., Balabanov P., Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the OutstandingIssues., Nucleic Acid Ther.; 2017 Oct; 27(5); 251-259; doi: 10.1089/nat. 2017. 0682; Epub 2017 Aug 10; PMID: 28796573

388. Tartaglione T, Brogna C, Cristiano L, Verdolotti T, Pane M, Ficociello L, Fanelli L, Colosimo C, Mercuri E., Early involvement of the supinator muscle in Duchenne muscular dystrophy, NeuromusculDisord. 2017 Oct 4. pii: S0960-8966(17)30551-5. doi: 10.1016/j.nmd.2017.09.011. [Epub ahead of print] No abstract available.

389. De Sanctis R, Pane M, Coratti G, Palermo C, Leone D, Pera MC, Abiusi E, Fiori S, Forcina N, Fanelli L, Lucibello S, Mazzone ES, Tiziano FD, Mercuri E., Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy., Neuromuscul Disord. 2017 Oct 10. pii: S0960-8966(17)31178-1. doi: 10.1016/j.nmd.2017.09.015. [Epub ahead of print]

390. Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies., Congenital myopathies: clinical phenotypes and new diagnostic tools, Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Review

391. Goemans N, Mercuri E, Belousova E, Komaki H, Dubrovsky A, McDonald CM, Kraus JE, Lourbakos A, Lin Z, Campion G, Wang SX, Campbell C; DEMAND III study group., A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy, Neuromuscul Disord. 2017 Dec 1. pii: S0960-8966(17)30200-6. doi: 10.1016/j.nmd.2017.10.004. [Epub ahead of print]

392. Finkel RS., Mercuri E., Darras BT., Connolly AM., Kuntz NL., Kirschner J., Chiriboga CA., Saito K., Servais L., Tizzano E., Topaloglu H., Tulinius M., Montes J., Glanzman AM., Bishop K., Zhong ZJ., Gheuens S., Bennett CF., Scheneider E., Farwell W., De Vivo DC., ENDEAR Study Group, Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy, N Engl J Med; 2017 Nov2; 377 (18); 1723-1732; doi: 10.1056/NEJMOa 1702752

393. Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group, Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics, Neuromuscul Disord. 2017 Nov 23. pii: S0960-8966(17)31290-7. doi: 10.1016/j. nmd.2017. 11.004. [Epub ahead of print]



394. Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group, Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care, Neuromuscul Disord. 2017 Nov 23. pii: S0960-8966(17)31284-1. doi: 10.1016/j. nmd.2017.11.005. [Epub ahead of print]

395. Battini R, Chieffo D, Bulgheroni S, Piccini G, Pecini C, Lucibello S, Lenzi S, Moriconi F, Pane M, Astrea G, Baranello G, Alfieri P, Vicari S, Riva D, Cioni G, Mercuri E. Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions, Neuromuscul Disord. 2017 Dec 6. pii: S0960-8966(17)31361-5. doi: 10.1016/j.nmd.2017.11.018. [Epub ahead of print]

396. Mercuri E., Neuromuscular disorders: 2017, a year to remember, Lancet Neurol. 2018 Jan;17(1):12-13. doi: 10.1016/S1474-4422(17)30418-0. Epub 2017 Dec 16. No abstract available.

2018

397. Bertini E, Mercuri E., Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy, Nat Rev Neurol. 2018 Jan 19. doi: 10.1038/nrneurol.2017.189. [Epub ahead of print] No abstract available

398. Vicari S, Piccini G, Mercuri E, Battini R, Chieffo D, Bulgheroni S, Pecini C, Lucibello S, Lenzi S, Moriconi F, Pane M, D'Amico A, Astrea G, Baranello G, Riva D, Cioni G, Alfieri P., PLoS One. 2018 Jan 16; 13(1):e0191164. doi: 10.1371/journal.pone.0191164., eCollection 2018

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

399. Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giuliano T, Torella A, Evila A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pausini MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V, Interpreting Genetic Variants in Titin in Patients With Muscle Disorders, JAMA Neurol., 2018 feb 12, doi: 10.1001/jammmmaneurol., 2017. 4899

400. Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone S, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS, CHERISH Study Group, Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy, N Engl. J. Med. 2018 feb 15; 378 (7); 625-635, doi: 10.1056/NEJ Moa 1710504

401. Romeo DM, Velli C, Lucibello S, Ferrantini G, Leo G, Brogna C, Cota F, Ricci D, Gallini F, Romagnoli C, Vento G, Mercuri E, Joint Laxity in Preschool Children Born Preterm, J Pediatr. 2018 apr 9; pii: S0022-3476(18)30184-7; doi: 10.1016/j.jpeds. 2018.02.008

402. McDonald CM, Mercuri E, Evidence-based care in Duchenne muscular dystrophy, Lancet Neurol. 2018 may; 17(5): 389-391; doi: 10.1016/S1474-4422(18)30115-7

403. Aartsma-Rus A, Mercuri E, Vroom E, Balabanov P, Meeting report of the “Regulatory Echange Matters” sessio at the 5th International TREAT-NMD Conference: Lessons in communication: How an early dialogue between patients, regulators and academics can further therapy development for neuromuscular disorders Freiburg, Germany, 27-29 November 2017, Neuromuscular Disord. 2018 apr 20; pii: S0960-8966(18)30196-2; doi: 10.1016/j.nmd.2018.04.009

Projects

Memberships

Other Relevant Information


personal information eugenio mercuri - ema.europa.eu · curriculum vitae eugenio mercuri 11....

Documents