Maria Bonsignore

Summary

Affiliation: University of Messina
Country: Italy

Publications

  1. ncbi request reprint Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis
    Maria Bonsignore
    Division of Infantile, Neuropsychiatry, Department of Medical and Surgical Pediatrics, University of Messina, via Consolare Valeria 98125 Messina, Italy
    Eur J Paediatr Neurol 10:154-6. 2006
  2. doi request reprint Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation
    Gabriella Di Rosa
    Department of Medical and Surgical Pediatrics, Unit of Infantile Neuropsychiatry, University Hospital of Messina, Messina, Italy
    Psychiatr Genet 18:40-2. 2008
  3. pmc Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns
    Lucia M Marseglia
    Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Neonatal Intensive Care, University of Messina, Messina, Italy
    Oxid Med Cell Longev 2015:543134. 2015
  4. ncbi request reprint Efficacy of folic acid in children with migraine, hyperhomocysteinemia and MTHFR polymorphisms
    Gabriella Di Rosa
    Department of Medical and Surgical Pediatrics, Unit of Infantile Neuropsychiatry, University Hospital of Messina, Messina, Italy
    Headache 47:1342-4. 2007
  5. ncbi request reprint New mutations in TK2 gene associated with mitochondrial DNA depletion
    Sara Galbiati
    Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, I R C C S Ospedale Maggiore Policlinico, Milano, Italy
    Pediatr Neurol 34:177-85. 2006

Collaborators

  • A Simonati
  • Andrea Martinuzzi
  • Gabriella Di Rosa
  • Lucia M Marseglia
  • Daniela Caccamo
  • Giuseppina Pustorino
  • Maria Spano
  • Gaetano Tortorella
  • Sara Galbiati
  • Giovanna Cardile
  • Carmelo Mamì
  • Sara Manti
  • Elisa Giaimo
  • Gabriella D'Angelo
  • Antonio Nicotera
  • Vincenzo Salpietro
  • Angela Alibrandi
  • Dominique Campion
  • Domenica Lucia Sgro
  • Solenn Legallic
  • Mohammed Aguennouz
  • Marilena Calabrò
  • Domenica L Sgrò
  • Sarina Attinà
  • Vincenzo Trapani-Lombardo
  • Giulia Ingegneri
  • Efi Katsarou
  • M hammed Aguennouz
  • Antonio Toscano
  • Marco Crimi
  • Monica Sciacco
  • Nereo Bresolin
  • Alessandro Prelle
  • Andreina Bordoni
  • Giacomo P Comi
  • Dimitra Papadimitriou
  • Anastasia Garufi
  • Alex Papadimitriou
  • Carmelo Rodolico

Detail Information

Publications5

  1. ncbi request reprint Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis
    Maria Bonsignore
    Division of Infantile, Neuropsychiatry, Department of Medical and Surgical Pediatrics, University of Messina, via Consolare Valeria 98125 Messina, Italy
    Eur J Paediatr Neurol 10:154-6. 2006
    ..Our findings support the notion that CLN1 patients are not rare in Southern Europe and facilitate DNA-based mutation and carrier testing in this family...
  2. doi request reprint Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation
    Gabriella Di Rosa
    Department of Medical and Surgical Pediatrics, Unit of Infantile Neuropsychiatry, University Hospital of Messina, Messina, Italy
    Psychiatr Genet 18:40-2. 2008
    ..We screened four Italian children with HPI presenting epilepsy, mental retardation, and behavioral disorders for PRODH gene mutations, and attempted a genotype-phenotype correlation...
  3. pmc Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns
    Lucia M Marseglia
    Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Neonatal Intensive Care, University of Messina, Messina, Italy
    Oxid Med Cell Longev 2015:543134. 2015
    ..The role of A1298C polymorphism may be taken into account for prenatal assessment and treatment counseling...
  4. ncbi request reprint Efficacy of folic acid in children with migraine, hyperhomocysteinemia and MTHFR polymorphisms
    Gabriella Di Rosa
    Department of Medical and Surgical Pediatrics, Unit of Infantile Neuropsychiatry, University Hospital of Messina, Messina, Italy
    Headache 47:1342-4. 2007
    ..A randomized, double-blind, placebo controlled crossover trial is needed to support these findings...
  5. ncbi request reprint New mutations in TK2 gene associated with mitochondrial DNA depletion
    Sara Galbiati
    Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, I R C C S Ospedale Maggiore Policlinico, Milano, Italy
    Pediatr Neurol 34:177-85. 2006
    ....