Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.

doi:10.1080/17482960802163853

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Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Feb 2009

Luisa Conforti Francesca, Sprovieri Teresa, Mazzei Rosalucia, Patitucci Alessandra, Ungaro Carmine, Zoccolella Stefano, Magariello Angela, Bella Vincenzo La, Tessitore Alessandro, Tedeschi Gioacchino, Simone Isa Laura, Majorana Giovanni, Valentino Paola, Citrigno Luigi, Gabriele Annalia, Bono Francesco, Monsurrò Maria Rosaria, Muglia Maria, Quattrone Aldo

Abstract excerpt

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...

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PMID: 18608106
DOI: 10.1080/17482960802163853

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SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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