Simona Orcesi

Summary

Affiliation: IRCCS C. Mondino
Country: Italy

Publications

  1. doi Neurodevelopmental outcome of preterm very low birth weight infants born from 2005 to 2007
    Simona Orcesi
    Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy
    Eur J Paediatr Neurol 16:716-23. 2012
  2. pmc Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report
    Dario Ronchi
    Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Foundation IRCCS Ca Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy
    BMC Neurol 11:85. 2011
  3. doi Aicardi-Goutieres syndrome
    S Orcesi
    Department of Child Neurology and Psychiatry, IRCCS C Mondino Institute of Neurology Foundation, Pavia, Italy
    Br Med Bull 89:183-201. 2009
  4. ncbi Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy
    S Orcesi
    Department of Child Neurology and Psychiatry, IRCCS C Mondino Institute of Neurology Foundation, Pavia, Italy
    Eur J Paediatr Neurol 12:408-11. 2008
  5. doi Spinal cord calcification in an early-onset progressive leukoencephalopathy
    Simona Orcesi
    Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy
    J Child Neurol 26:876-80. 2011
  6. doi New case of 4H syndrome and a review of the literature
    Simona Orcesi
    Department of Child Neurology and Psychiatry, IRCCS C Mondino Institute of Neurology Foundation, 27100 Pavia, Italy
    Pediatr Neurol 42:359-64. 2010
  7. doi Outcome of extremely low birth weight infants: what's new in the third millennium? Neuropsychological profiles at four years
    Ivana Olivieri
    University of Pavia, Pavia, Italy
    Early Hum Dev 88:241-50. 2012
  8. doi MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features
    Davide Tonduti
    Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Via Mondino 2, Pavia, Italy
    J Child Neurol 28:795-800. 2013
  9. doi Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers
    Davide Tonduti
    Department of Child Neurology and Psychiatry Unit, IRCCS, C Mondino National Institute of Neurology, Foundation, Pavia, Italy
    Neuropediatrics 44:213-7. 2013
  10. doi Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma
    Ivana Olivieri
    Department of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy
    Epileptic Disord 12:233-5. 2010

Collaborators

Detail Information

Publications19

  1. doi Neurodevelopmental outcome of preterm very low birth weight infants born from 2005 to 2007
    Simona Orcesi
    Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy
    Eur J Paediatr Neurol 16:716-23. 2012
    ....
  2. pmc Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report
    Dario Ronchi
    Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Foundation IRCCS Ca Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy
    BMC Neurol 11:85. 2011
    ..Onset is in early infancy and prognosis is poor. Causative mutations have been disclosed in mitochondrial DNA and nuclear genes affecting respiratory chain subunits and assembly factors...
  3. doi Aicardi-Goutieres syndrome
    S Orcesi
    Department of Child Neurology and Psychiatry, IRCCS C Mondino Institute of Neurology Foundation, Pavia, Italy
    Br Med Bull 89:183-201. 2009
    ..The main extraneurological symptoms are chilblain-like skin lesions, usually on the fingers, toes and ears...
  4. ncbi Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy
    S Orcesi
    Department of Child Neurology and Psychiatry, IRCCS C Mondino Institute of Neurology Foundation, Pavia, Italy
    Eur J Paediatr Neurol 12:408-11. 2008
    ..This case highlights the importance of considering Aicardi-Goutières syndrome in the differential diagnosis of an unexplained leukoencephalopathy and the possibility of later onset of the disease...
  5. doi Spinal cord calcification in an early-onset progressive leukoencephalopathy
    Simona Orcesi
    Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy
    J Child Neurol 26:876-80. 2011
    ..In our opinion, our case, and probably 2 previously reported Japanese siblings with a picture very similar to that of our patient, could represent a new, progressive leukoencephalomyelopathy...
  6. doi New case of 4H syndrome and a review of the literature
    Simona Orcesi
    Department of Child Neurology and Psychiatry, IRCCS C Mondino Institute of Neurology Foundation, 27100 Pavia, Italy
    Pediatr Neurol 42:359-64. 2010
    ....
  7. doi Outcome of extremely low birth weight infants: what's new in the third millennium? Neuropsychological profiles at four years
    Ivana Olivieri
    University of Pavia, Pavia, Italy
    Early Hum Dev 88:241-50. 2012
    ..Follow-up protocols are able, in the short term, to identify subjects at risk of developing major sequelae, however they fail to identify all children at risk of developing disorders...
  8. doi MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features
    Davide Tonduti
    Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Via Mondino 2, Pavia, Italy
    J Child Neurol 28:795-800. 2013
    ..In one subject a novel mutation is described...
  9. doi Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers
    Davide Tonduti
    Department of Child Neurology and Psychiatry Unit, IRCCS, C Mondino National Institute of Neurology, Foundation, Pavia, Italy
    Neuropediatrics 44:213-7. 2013
    ..Our findings suggest that HEMS patients should undergo a new magnetic resonance imaging evaluation after a certain interval to look for possible progression of the abnormalities. ..
  10. doi Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma
    Ivana Olivieri
    Department of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy
    Epileptic Disord 12:233-5. 2010
    ..Published with video sequences]...
  11. doi Sleep disturbances in visually impaired toddlers
    Elisa Fazzi
    Department of Child Neurology and Psychiatry Regional Centre of Child Neurophthalmology, IRCCS C Mondino Institute of Neurology, Via Mondino 2, 27100 Pavia, Italy
    Brain Dev 30:572-8. 2008
    ..We also evaluated the influence of age, sex and the presence of other disabilities on sleep patterns...
  12. doi COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers
    Davide Tonduti
    Child Neurology and Psychiatry Unit, C Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy
    Neuropediatrics 43:283-8. 2012
    ..Mutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific...
  13. doi A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary results
    Simona Orcesi
    1Unit of Child Neurology and Psychiatry, C Mondino National Neurological Institute, Pavia, Italy
    J Child Neurol 29:167-81. 2014
    ..We suggest that our new approach could help to improve understanding of quality of life in children with neuromuscular disorders. ..
  14. ncbi A questionnaire on sleep behaviour in the first years of life: preliminary results from a normative sample
    Elisa Fazzi
    Department of Child Neurology and Psychiatry, Regional Centre of Child Neurophthalmology, IRCCS C Mondino Institute of Neurology Foundation Pavia, Italy
    Funct Neurol 21:151-8. 2006
    ..This instrument seems, on the basis of these preliminary data, to allow the tracing of a well-defined and complete picture of the sleep behaviour of the healthy child in the first years of life...
  15. ncbi Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case
    Simona Orcesi
    Department of Child Neurology and Psychiatry, Regional Referral Center for Neuromuscular Disorders in Childhood IRCCS C Mondino Foundation, University of Pavia, Italy
    J Child Neurol 21:79-82. 2006
    ..J Child Neurol 2006;21:79-82)...
  16. doi Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?
    Elisa Fazzi
    Child Neurology and Psychiatry Unit, Mother Child Department, Spedali Civili, Brescia, Italy
    Autoimmun Rev 12:506-9. 2013
    ..The relative lack of precise information on pathogenesis and on the evolution of the disease over time has not yet allowed the creation of codified diagnostic and therapeutic models and programs...
  17. ncbi Quantitative MR evaluation of body composition in patients with Duchenne muscular dystrophy
    Anna Pichiecchio
    Department of Neuroradiology, Istituto Neurologico Fondazione C Mondino I R C C S, Via Palestro, 3, 27100 Pavia, Italy
    Eur Radiol 12:2704-9. 2002
    ..001). Our MR study proved to be accurate and easy to apply, although it was time-consuming. We recommend it in monitoring the progression of the disease and planning DMD patients' diet...
  18. doi Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome
    A Izzotti
    Department of Health Sciences, University of Genoa, Via Pastore 1, 16132, Genoa, Italy
    Neurology 71:610-2. 2008
  19. ncbi The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients
    G Lanzi
    Department of Child Neurology and Psychiatry, IRCCS C Mondino Institute of Neurology, University of Pavia, Via Mondino 2, 27100 Pavia, Italy
    Neurology 64:1621-4. 2005
    ..Calcifications increased (in number and size) in two of six patients. Serial CSF and serum interferon-alpha measurements (three patients) showed reduced CSF interferon-alpha levels...