Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. (Articolo in rivista)

Type
Label
  • Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. (Articolo in rivista) (literal)
Anno
  • 2009-01-01T00:00:00+01:00 (literal)
Alternative label
  • Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A. (2009)
    Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
    in Amyotrophic lateral sclerosis (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A. (literal)
Pagina inizio
  • 58 (literal)
Pagina fine
  • 60 (literal)
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  • 10 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • From the Institute of Neurological Sciences, National Research Council, Mangone, Cosenza b Department of Neurological and Psychiatric Sciences, University of Bari, Bari c Department of Neurology and Psychiatry, University of Palermo, Palermo d Second Division of Neurology, Second University of Naples, Naples e Department of Neurosciences, Psychiatric and Anaesthesiological Sciences, University of Messina, Messina f Institute of Neurology, University Magna Graecia, Catanzaro, Italy (literal)
Titolo
  • Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. (literal)
Abstract
  • Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In sporadic cases (SALS), de novo mutations in the SOD1 gene have occasionally been observed. All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A. To date, in Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in a homozygous state.We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation. (literal)
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