Research Topics

M Zappella

Summary

Country: Italy

Publications

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

Detail Information

Publications9

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...
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
....
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...
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...
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)...
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...
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
....
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...
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