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Article

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis.

Neurology - 1 Nov 1996

Robberecht W, Aguirre T, Van den Bosch L, Tilkin P, Cassiman J J, Matthijs G

Abstract excerpt

All mutations in the SOD1 gene associated with familial ALS behave as dominant traits. One mutation, however, giving rise to an aspartic acid to alanine substitution in codon 90 (D90A), was reported only to induce motor neuron disease in homozygous individuals in the Scandinavian population. We d...

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Source

Identifiers

PMID: 8909456
DOI: 10.1212/wnl.47.5.1336

Genes

SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8909456-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

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D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis.PMID 8909456Read ↗

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.Semantic proximity Read ↗

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Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation.Semantic proximity Read ↗

DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS.Semantic proximity Read ↗

D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.Semantic proximity Read ↗

A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.Semantic proximity Read ↗

D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings.Semantic proximity Read ↗

A homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family.Semantic proximity Read ↗

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