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Article

An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation.

Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases - 1 Sept 2003

Ferrera Loretta, Caponnetto Claudia, Marini Valeria, Rizzi Domenica, Bordo Domenico, Penco Silvana, Amoroso Antonio, Origone Paola, Garrè Cecilia

Abstract excerpt

INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurological disease. Mutations of the Cu/Zn superoxide dismutase gene (SOD1) are responsible for 20% of autosomal dominant familial ALS (FALS). RESULTS: We examined the clinical features of the first Italian FALS with t...

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Source

Identifiers

PMID: 13129804
DOI: 10.1080/aml.4.3.167.170

Genes

SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-13129804-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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