M Zappella

Summary

Country: Italy

Publications

  1. ncbi request reprint Early-onset Tourette syndrome with reversible autistic behaviour: a dysmaturational disorder
    M Zappella
    Divisione di Neuropsichiatria Infantile, Azienda Ospedaliera Senese, Siena, Italy
    Eur Child Adolesc Psychiatry 11:18-23. 2002
  2. ncbi request reprint Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features
    C Pescucci
    Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy
    Clin Genet 64:497-501. 2003
  3. 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
  4. ncbi request reprint Rett syndrome and plasma leptin levels
    P Blardi
    Center of Clinical Pharmacology, the Department of Child Neurology and Psychiatry, University of Siena, Siena, Italy
    J Pediatr 150:37-9. 2007
  5. ncbi request reprint Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study
    A Philippe
    INSERM U155, Universite Paris VII, France
    Hum Mol Genet 8:805-12. 1999
  6. ncbi request reprint MECP2 mutation in male patients with non-specific X-linked mental retardation
    A Orrico
    Medical Genetics, Policlinico Le Scotte, Sienna, Italy
    FEBS Lett 481:285-8. 2000
  7. ncbi request reprint Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
    M Vacca
    International Institute of Genetics and Biophysics, CNR, Naples, Italy
    J Mol Med (Berl) 78:648-55. 2001
  8. ncbi request reprint MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
    M Vacca
    International Institute of Genetics and Biophysics, CNR, Via Marconi 10, 80125, Naples, Italy
    Brain Dev 23:S246-50. 2001
  9. pmc Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects
    R Zannolli
    J Med Genet 40:e121. 2003

Collaborators

  • P Blardi
  • C Gillberg
  • R Canitano
  • G Hayek
  • M Vacca
  • R Zannolli
  • I Meloni
  • A Renieri
  • S Buoni
  • C Miracco
  • F Macucci
  • C Pescucci
  • V Rossi
  • A Budillon
  • S Bigoni
  • A Ferlini
  • F Gualandi
  • E Manzati
  • F Filippini
  • F Macdonald
  • A Kerr
  • G Mercadante
  • E Calzolari
  • M Hulten
  • C Trabanelli
  • G Pini
  • S Dhanjal
  • A Orrico
  • A Philippe
  • A Cuccia
  • R Scarinci
  • M de Santi
  • A Orsi
  • J Hayek
  • A Buscalferri
  • L Volterrani
  • M A Mazzei
  • A B Burlina
  • G Morgese
  • J A Swift
  • P Sacco
  • B Lucani
  • P Terrosi Vagnoli
  • I Longo
  • G Jacomelli
  • S Gonnelli
  • P Piomboni
  • L Pucci
  • F Ariani
  • M Bruttini
  • V Micheli
  • M M de Santi
  • W Livi
  • F Mari
  • M Fimiani
  • L Pellegrini
  • E Bruni
  • M L De Bonis
  • M D'ESPOSITO
  • M D'Urso
  • F Della Ragione
  • L Galli
  • P M Poon
  • C Lam
  • S F Tong
  • A Federico
  • M T Dotti
  • V Sorrentino
  • M Coleman
  • E Sponheim
  • M Guilloud-Bataille
  • L Van Maldergem
  • M Leboyer
  • A Brice
  • M Martinez
  • H Aschauer
  • L van Malldergerme
  • M Rastam
  • C Penet
  • J Feingold

Detail Information

Publications9

  1. ncbi request reprint Early-onset Tourette syndrome with reversible autistic behaviour: a dysmaturational disorder
    M Zappella
    Divisione di Neuropsichiatria Infantile, Azienda Ospedaliera Senese, Siena, Italy
    Eur Child Adolesc Psychiatry 11:18-23. 2002
    ..At follow-up tics were present in all, usually with the features of a full-blown Tourette syndrome, often comorbid with ADHD, and in some cases with OCD...
  2. ncbi request reprint Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features
    C Pescucci
    Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy
    Clin Genet 64:497-501. 2003
    ....
  3. 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...
  4. ncbi request reprint Rett syndrome and plasma leptin levels
    P Blardi
    Center of Clinical Pharmacology, the Department of Child Neurology and Psychiatry, University of Siena, Siena, Italy
    J Pediatr 150:37-9. 2007
    ..To describe in patients with Rett syndrome (classic and preserved-speech variant) plasma leptin levels and their relationship to BMI (body mass index) and age...
  5. ncbi request reprint Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study
    A Philippe
    INSERM U155, Universite Paris VII, France
    Hum Mol Genet 8:805-12. 1999
    ..Our study revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp. We found that the most significant multipoint linkage was close to marker D6S283 (maximum lod score = 2.23, P = 0.0013)...
  6. ncbi request reprint MECP2 mutation in male patients with non-specific X-linked mental retardation
    A Orrico
    Medical Genetics, Policlinico Le Scotte, Sienna, Italy
    FEBS Lett 481:285-8. 2000
    ..These results indicate that MECP2 mutations are not necessarily lethal in males and that they can be causative of non-specific X-linked mental retardation...
  7. ncbi request reprint Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
    M Vacca
    International Institute of Genetics and Biophysics, CNR, Naples, Italy
    J Mol Med (Berl) 78:648-55. 2001
    ....
  8. ncbi request reprint MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
    M Vacca
    International Institute of Genetics and Biophysics, CNR, Via Marconi 10, 80125, Naples, Italy
    Brain Dev 23:S246-50. 2001
    ..Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors...
  9. pmc Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects
    R Zannolli
    J Med Genet 40:e121. 2003