Raffaella Zannolli

Summary

Affiliation: University of Siena
Country: Italy

Publications

  1. doi request reprint A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
    Raffaella Zannolli
    Child Neurology and Psychiatry Unit, Azienda Ospedaliera Universitaria Senese University of Siena, Policlinico Le Scotte, Siena, Italy
    Mov Disord 27:1312-6. 2012
  2. pmc Quantitative Real-Time PCR detection of TRPV1-4 gene expression in human leukocytes from healthy and hyposensitive subjects
    Giacomo Spinsanti
    Department of Evolutionary Biology, University of Siena, Siena, Italy
    Mol Pain 4:51. 2008
  3. ncbi request reprint Global developmental delay, osteopenia and ectodermal defect: a new syndrome
    Raffaella Zannolli
    Department of Paediatrics, Obstetrics and Reproductive Medicine, Section of Paediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Brain Dev 28:155-61. 2006
  4. ncbi request reprint A child with vestibular neuritis. is adenovirus implicated?
    Raffaella Zannolli
    Department of Pediatrics, Section of Pediatric Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy
    Brain Dev 28:410-2. 2006
  5. ncbi request reprint MOMO syndrome: a possible third case
    R Zannolli
    Department of Pediatrics, Policlinico Le Scotte, University of Siena, Italy
    Clin Dysmorphol 9:281-4. 2000
  6. ncbi request reprint Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G
    Raffaella Zannolli
    Department of Pediatrics, Section of Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy
    Brain Dev 29:373-6. 2007
  7. doi request reprint Polydactyly with ectodermal defect, osteopenia, and mental delay
    Raffaella Zannolli
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    J Child Neurol 23:683-9. 2008
  8. doi request reprint New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challenge
    Raffaella Zannolli
    Department of Pediatrics, Section of Pediatrics Neurology and Pediatrics Neuropsychiatric Unit, Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, University of Siena, Viale Bracci, I 53100 Siena, Italy
    Brain Dev 30:461-8. 2008
  9. doi request reprint Telomere length and obesity
    Raffaella Zannolli
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Acta Paediatr 97:952-4. 2008
  10. doi request reprint Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction
    Raffaella Zannolli
    Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, Siena, Italy
    NMR Biomed 23:353-8. 2010

Detail Information

Publications34

  1. doi request reprint A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
    Raffaella Zannolli
    Child Neurology and Psychiatry Unit, Azienda Ospedaliera Universitaria Senese University of Siena, Policlinico Le Scotte, Siena, Italy
    Mov Disord 27:1312-6. 2012
    ..In conclusion, Oral betamethasone could be a promising therapy to relieve ataxia symptoms in A-T patients; however, long-term effectiveness and safety must be established. (Current Controlled Trials, number ISRCTN08774933.)..
  2. pmc Quantitative Real-Time PCR detection of TRPV1-4 gene expression in human leukocytes from healthy and hyposensitive subjects
    Giacomo Spinsanti
    Department of Evolutionary Biology, University of Siena, Siena, Italy
    Mol Pain 4:51. 2008
    ..While the expression of the TRPV1-4 genes has been adequately proved in skin, sensory fibres and keratinocytes, less is known about TRPV3 and TRPV4 expression in human blood cells...
  3. ncbi request reprint Global developmental delay, osteopenia and ectodermal defect: a new syndrome
    Raffaella Zannolli
    Department of Paediatrics, Obstetrics and Reproductive Medicine, Section of Paediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Brain Dev 28:155-61. 2006
    ....
  4. ncbi request reprint A child with vestibular neuritis. is adenovirus implicated?
    Raffaella Zannolli
    Department of Pediatrics, Section of Pediatric Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy
    Brain Dev 28:410-2. 2006
    ..This may be of interest, given that a viral etiology for VN has been proposed but not definitively proven...
  5. ncbi request reprint MOMO syndrome: a possible third case
    R Zannolli
    Department of Pediatrics, Policlinico Le Scotte, University of Siena, Italy
    Clin Dysmorphol 9:281-4. 2000
    ..It is the third possible example of this rare syndrome to be described in the literature, with some new clinical findings presented...
  6. ncbi request reprint Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G
    Raffaella Zannolli
    Department of Pediatrics, Section of Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy
    Brain Dev 29:373-6. 2007
    ..Our report may provide important clues for understanding the pathogenesis of the KS...
  7. doi request reprint Polydactyly with ectodermal defect, osteopenia, and mental delay
    Raffaella Zannolli
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    J Child Neurol 23:683-9. 2008
    ..Instead, we hypothesize that it likely develops as a contiguous gene syndrome...
  8. doi request reprint New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challenge
    Raffaella Zannolli
    Department of Pediatrics, Section of Pediatrics Neurology and Pediatrics Neuropsychiatric Unit, Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, University of Siena, Viale Bracci, I 53100 Siena, Italy
    Brain Dev 30:461-8. 2008
    ..Case study of a CNS impairment lacking in presumptive cause; case presents with a clinical phenotype encompassing multiple differently expressed and combined symptoms, as well as a subtle skin defect...
  9. doi request reprint Telomere length and obesity
    Raffaella Zannolli
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Acta Paediatr 97:952-4. 2008
    ..To assess the telomere length in apparently healthy obese and normal-weight subjects...
  10. doi request reprint Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction
    Raffaella Zannolli
    Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, Siena, Italy
    NMR Biomed 23:353-8. 2010
    ..6% sensitivity). These observations are of importance, as we found that subtle increases in urinary EMA levels are frequent in patients with non-specific CNS impairment. The reasons for this association remain unknown...
  11. ncbi request reprint Occipital intermittent rhythmic delta activity only following eye closure in atypical CNS Salmonellosis
    S Buoni
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Clin Neurophysiol 116:1768-70. 2005
    ....
  12. ncbi request reprint Delayed response of seizures with vagus nerve stimulation in Lennox-Gastaut syndrome
    S Buoni
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Neurology 63:1539-40. 2004
  13. ncbi request reprint Char syndrome: an additional family with polythelia, a new finding
    R Zannolli
    Department of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Am J Med Genet 95:201-3. 2000
    ..The girl also had a patent ductus arteriosus. In addition, both patients had polythelia (supernumerary nipples), a finding not described before in the Char syndrome...
  14. ncbi request reprint Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)]
    R Zannolli
    Department of Pediatrics, University of Siena, Italy
    Am J Med Genet 102:29-35. 2001
    ..We suggest that a new syndrome, mimicking in some ways the MLS phenotype, is caused by a deletion in the chromosome 14q11.2 region...
  15. ncbi request reprint Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype
    R Zannolli
    Department of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Pediatr Dermatol 18:332-5. 2001
    ....
  16. ncbi request reprint Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration
    Raffaella Zannolli
    Department of Pediatrics, Obstetrics, and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Arch Neurol 59:1319-26. 2002
    ..The disease has been found in monozygotic twins and in siblings. In 2 previously described families, the disorder has affected 2 generations...
  17. ncbi request reprint 18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family
    R Zannolli
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Am J Med Genet A 116:192-9. 2003
    ..Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal...
  18. pmc Posterior knee pain: primary symptom of a small non-occlusive venous clot
    R Zannolli
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Arch Dis Child 88:728-9; discussion 728-9. 2003
    ..The case is relevant for its unique presentation and symptoms. Lack of recanalisation persisted at one year follow up...
  19. ncbi request reprint Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia
    R Zannolli
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Am J Med Genet A 127:212-6. 2004
    ..The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description...
  20. ncbi request reprint Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma
    Sabrina Buoni
    Department of Pediatrics, Section of Pediatric Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy
    Pediatr Dermatol 24:267-71. 2007
    ..Although this new association could be a chance occurrence, its description may alert physicians to look for similar combinations and report these, as it may lead to better syndrome delineation, and patient care...
  21. ncbi request reprint Focal cortical dysplasia type 1b as a cause of severe epilepsy with multiple independent spike foci
    Sabrina Buoni
    Department of Pediatrics, Section of Pediatric Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy
    Brain Dev 30:53-8. 2008
    ..1) Hidden FCD type 1b could represent a missing diagnosis in patients with SE-MISF in the absence of other causes for their seizures. (2) Complete callosotomy can be efficacious in patients with SE-MISF with hidden FCD type 1b...
  22. ncbi request reprint Familial robertsonian 13;14 translocation with mental retardation and epilepsy
    Sabrina Buoni
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    J Child Neurol 21:531-3. 2006
    ..No uniparental disomy was present. We concluded that genetic counseling in the presence of this rearrangement was extremely difficult, independent of the affected parent being symptomatic or asymptomatic...
  23. doi request reprint Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome
    Sabrina Buoni
    Pediatrics Neuropsychiatric Unit, Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, Siena, Italy
    Clin Neurophysiol 119:2455-8. 2008
    ..To determine in MECP2-mutated Rett syndrome (RTT [MIM 312750]): (1) the prevalence of drug-resistant epilepsy (DRE); (2) whether the presence of DRE is related to the abnormal EEG patterns or to the particular MECP2 mutant genotype...
  24. doi request reprint [(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case
    Maria Tassini
    The NMR Center University of Siena, Siena, Italy
    J Child Neurol 25:98-101. 2010
    ..We conclude that for this case, urine [(1)H] magnetic resonance spectroscopy screening was able to diagnose guanidinoacetate methyl transferase deficiency...
  25. ncbi request reprint D-bifunctional protein deficiency associated with drug resistant infantile spasms
    Sabrina Buoni
    Department of Pediatrics, Section of Pediatric Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy
    Brain Dev 29:51-4. 2007
    ..To date, only a few patients with D-BP deficiency have been described in the literature. This case adds to our knowledge of the clinical presentation of bifunctional protein deficiency...
  26. ncbi request reprint Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia
    Sabrina Buoni
    Department of Pediatrics, University of Siena, Siena, Italy
    Arch Neurol 63:1479-82. 2006
    ..To our knowledge, there have been no reports on the control of central nervous system symptoms in patients with ataxia-telangiectasia...
  27. doi request reprint EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome
    Sabrina Buoni
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Child Neurology and Psychiatry Pediatrics, Azienda Ospedaliera Universitaria Senese, S Maria alle Scotte Hospital, Siena, Italy
    Clin Neurophysiol 121:652-7. 2010
    ..To assess the presence/absence of peculiar EEG features and epilepsy in MECP2-mutated Rett patients with the Zappella-Rett variant (Z-RTT) also known as preserved speech variant...
  28. ncbi request reprint Myoclonic encephalopathy in the CDKL5 gene mutation
    Sabrina Buoni
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Clin Neurophysiol 117:223-7. 2006
    ..The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL5 mutation...
  29. ncbi request reprint Surgery removes EEG abnormalities in patients with Chiari type I malformation and poor CSF flow
    Sabrina Buoni
    Section of Pediatric Neurology, Department of Pediatrics, University of Siena, Policlinico Le Scotte, Viale Bracci, 53100 Siena, Italy
    Clin Neurophysiol 117:959-63. 2006
    ..To study the outcome of EEG from patients with Chiari I malformations and nonspecific EEG abnormalities, after posterior fossa decompression and CSF flow normalization...
  30. ncbi request reprint Atypical BECTS and homocystinuria
    S Buoni
    Section of Pediatrics, Department of Pediatrics, Obstetrics, and Reproductive Medicine, Policlinico Le Scotte, University of Siena, Italy
    Neurology 61:1129-31. 2003
    ..In all three, EEG were suggestive of BECTS, although the clinical features were not. Homocystinuria could not be diagnosed for several years, pending metabolic evaluation...
  31. ncbi request reprint Combined treatment with vigabatrin and topiramate in West syndrome
    Sabrina Buoni
    Department of Pediatrics, Obstetric and Reproductive Medicine, Policlinico Le Scotte, University of Siena, Italy
    J Child Neurol 19:385-6. 2004
    ..This drug combination led to rapid neurodevelopmental normalization in cryptogenic patients. The results are promising and justify more trials in larger numbers of children with West syndrome...
  32. ncbi request reprint SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy
    S Buoni
    Department of Pediatrics, University of Siena, Siena, Italy
    Neurology 66:606-7. 2006
  33. ncbi request reprint Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects
    S Buoni
    Section of Pediatric Neurology, Department of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Eur J Neurol 13:842-51. 2006
    ..The ultrastructural abnormalities suggested a defect in cell trafficking involving several cell lines and compartments...
  34. ncbi request reprint Classical lissencephaly associated with dolichocephaly, hair and nail defect
    Claudio Celentano
    Department of Medicine and Aging, Section of Obstetric and Gynecology, Nuovo Policlinico, University G D Annunzio, Medical School, University of Chieti, Chieti, Italy
    Brain Dev 28:392-4. 2006
    ..Because previously reported cases were not associated with the features described in our proband, they might represent a newly identified condition...