Stefania Battistini

Summary

Affiliation: University of Siena
Country: Italy

Publications

  1. ncbi A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia
    S Battistini
    Institute of Neurological Sciences, University of Siena, Italy
    Neurology 53:38-43. 1999
  2. doi 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
  3. doi 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
  4. doi 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
  5. pmc Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
    Adriano Chio
    Department of Neuroscience, University of Torino, Via Cherasco 15, Turin, Italy
    Arch Neurol 68:594-8. 2011
  6. pmc Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
    Adriano Chio
    Department of Neuroscience, University of Turin and Azienda Ospedale Università San Giovanni Battista of Turin, I 10126 Turin, Italy
    Brain 135:784-93. 2012
  7. 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
  8. doi 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
  9. pmc Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
    Adriano Chio
    ALS Center, Department of Neuroscience, University of Turin, Turin, Italy
    Neurobiol Aging 30:1272-5. 2009
  10. doi 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

Detail Information

Publications15

  1. ncbi A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia
    S Battistini
    Institute of Neurological Sciences, University of Siena, Italy
    Neurology 53:38-43. 1999
    ..To search for mutations in the calcium channel gene CACNA1A and to study the genotype-phenotype correlation in a family with a severe familial hemiplegic migraine (FHM) phenotype and a slowly progressive cerebellar ataxia...
  2. doi 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
    ....
  3. doi 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...
  4. doi 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...
  5. pmc Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
    Adriano Chio
    Department of Neuroscience, University of Torino, Via Cherasco 15, Turin, Italy
    Arch Neurol 68:594-8. 2011
    ..To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)-related genes in a consecutive cohort of Sardinian patients, a genetic isolate phylogenically distinct from other European populations...
  6. pmc Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
    Adriano Chio
    Department of Neuroscience, University of Turin and Azienda Ospedale Università San Giovanni Battista of Turin, I 10126 Turin, Italy
    Brain 135:784-93. 2012
    ..Their pedigrees typically display a high frequency of cases with pure frontotemporal dementia, widening the concept of familial amyotrophic lateral sclerosis...
  7. 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...
  8. doi 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...
  9. pmc Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
    Adriano Chio
    ALS Center, Department of Neuroscience, University of Turin, Turin, Italy
    Neurobiol Aging 30:1272-5. 2009
    ..R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation...
  10. doi 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...
  11. doi 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...
  12. 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...
  13. doi Genotyping of macrophage migration inhibitory factor (MIF) CATT₅₋₈ repeat polymorphism by denaturing high-performance liquid chromatography (DHPLC)
    Michele Benigni
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    Mol Biotechnol 54:874-9. 2013
    ..Data from the current study demonstrate that this method of analysis by DHPLC may represent a powerful and sensitive alternative tool for a rapid and efficient genotyping of short tandem repeats presenting a limited number of alleles...
  14. pmc A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
    Adriano Chio
    Department of Neuroscience, University of Turin, Turin, Italy
    Hum Mol Genet 18:1524-32. 2009
    ..Our findings suggest that ALS is more genetically and clinically heterogeneous than previously recognized. Genotype data from our study have been made available online to facilitate such future endeavors...
  15. doi 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...