Stefania Battistini

Summary

Affiliation: University of Siena
Country: Italy

Publications

  1. ncbi G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype
    Stefania Battistini
    Department of Neuroscience, University of Siena, Italy
    Amyotroph Lateral Scler 11:210-5. 2010
  2. ncbi SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study
    Stefania Battistini
    Dept of Neuroscience, University of Siena, Siena, Italy
    J Neurol 252:782-8. 2005
  3. ncbi D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings
    Fabio Giannini
    Departments of Neurosciences, University of Siena, Italy
    Amyotroph Lateral Scler 11:216-9. 2010
  4. ncbi A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS
    Claudia Ricci
    Department of Neuroscience, University of Siena, Italy
    Amyotroph Lateral Scler 11:481-5. 2010
  5. ncbi Lack of association of PON polymorphisms with sporadic ALS in an Italian population
    Claudia Ricci
    Department of Neuroscience Neurology Section, University of Siena, Siena, Italy
    Neurobiol Aging 32:552.e7-13. 2011
  6. ncbi No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population
    Claudia Ricci
    Department of Neurological, Neurosurgical and Behavioural Sciences, Neurology Section, University of Siena, Siena, Italy
    Neurobiol Aging 33:208.e7-8. 2012
  7. ncbi Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene
    Stefania Battistini
    Department of Neuroscience, University of Siena, Siena, Italy
    J Neurol Sci 293:112-5. 2010
  8. ncbi Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation
    Stefania Battistini
    Department of Neuroscience, University of Siena, Italy
    Arch Neurol 64:843-8. 2007
  9. ncbi Regulation of redox forms of plasma thiols by albumin in multiple sclerosis after fasting and methionine loading test
    Danila Di Giuseppe
    Dipartimento di Neuroscienze, Sezione di Farmacologia, Universita di Siena, 53100, Siena, Italy
    Amino Acids 38:1461-71. 2010
  10. ncbi Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population
    Lucia Corrado
    Laboratory of Human Genetics, Department of Medical Sciences and IRCAD Interdisciplinary Research Center of Autoimmune Diseases, Eastern Piedmont University, Novara, Italy
    J Neurol Sci 258:123-7. 2007

Collaborators

Detail Information

Publications11

  1. ncbi G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype
    Stefania Battistini
    Department of Neuroscience, University of Siena, Italy
    Amyotroph Lateral Scler 11:210-5. 2010
    ..In addition, our findings strengthen the data reported previously and indicate that the G41S mutation is consistently associated with a uniform and dramatic, fast-progressing phenotype...
  2. ncbi SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study
    Stefania Battistini
    Dept of Neuroscience, University of Siena, Siena, Italy
    J Neurol 252:782-8. 2005
    ..No SOD1 gene mutations have been identified in SALS cases. Within FALS cases, The most frequent mutation was the G41S identified in four FALS...
  3. ncbi D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings
    Fabio Giannini
    Departments of Neurosciences, University of Siena, Italy
    Amyotroph Lateral Scler 11:216-9. 2010
    ..One patient experienced early sensory involvement, confirmed by nerve biopsy. We review sensory symptoms in SOD1 ALS and discuss its possible origin in D90A heterozygous patients...
  4. ncbi A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS
    Claudia Ricci
    Department of Neuroscience, University of Siena, Italy
    Amyotroph Lateral Scler 11:481-5. 2010
    ..This property can result in a failure of the protein to fold and generation of toxic intracellular aggregates, suggesting a pathogenic role for the mutation...
  5. ncbi Lack of association of PON polymorphisms with sporadic ALS in an Italian population
    Claudia Ricci
    Department of Neuroscience Neurology Section, University of Siena, Siena, Italy
    Neurobiol Aging 32:552.e7-13. 2011
    ..No significant association was observed at genotype and haplotype level. Our data suggest that PON polymorphisms are not involved in ALS pathogenesis in an Italian population...
  6. ncbi No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population
    Claudia Ricci
    Department of Neurological, Neurosurgical and Behavioural Sciences, Neurology Section, University of Siena, Siena, Italy
    Neurobiol Aging 33:208.e7-8. 2012
    ..677C>T variant alone or in combination with PON1 polymorphisms. Our negative results suggest that the MTHFR c.677C>T polymorphism is not a risk factor for ALS in the Italian population...
  7. ncbi Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene
    Stefania Battistini
    Department of Neuroscience, University of Siena, Siena, Italy
    J Neurol Sci 293:112-5. 2010
    ....
  8. ncbi Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation
    Stefania Battistini
    Department of Neuroscience, University of Siena, Italy
    Arch Neurol 64:843-8. 2007
    ..2-27 (CCM3; OMIM 603285), and 3 genes have been cloned, KRIT1 on CCM1, MGC4607 on CCM2, and PDCD10 on CCM3. Mutations in KRIT1 account for more than 40% of CCMs...
  9. ncbi Regulation of redox forms of plasma thiols by albumin in multiple sclerosis after fasting and methionine loading test
    Danila Di Giuseppe
    Dipartimento di Neuroscienze, Sezione di Farmacologia, Universita di Siena, 53100, Siena, Italy
    Amino Acids 38:1461-71. 2010
    ..This study has also demonstrated that albumin-dependent SH/SS exchange reactions are a potent regulation system of thiol redox species in plasma...
  10. ncbi Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population
    Lucia Corrado
    Laboratory of Human Genetics, Department of Medical Sciences and IRCAD Interdisciplinary Research Center of Autoimmune Diseases, Eastern Piedmont University, Novara, Italy
    J Neurol Sci 258:123-7. 2007
    ..In conclusion, we did not detect the association with rs11701-G or with any other newly detected variation in the ANG regulatory region. Furthermore we did not identify potentially causal mutations in the coding region...
  11. ncbi Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosispatients
    Alberto Ferri
    Ist. di Neuroscienze CNR, Sez. Psicobiologia e Psicofarmacologia, Rome, Italy
    J Neurochem 90:1237-42. 2004
    ..These data confirm that modification of calcineurin activity and possibly of calcineurin-mediated pathways of signal transduction (including modulation of apoptotic neuronal death) may contribute to the pathogenesis of ALS...