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Article

Analysis of the C9orf72 gene in spinal muscular atrophy patients.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Dec 2014

Alías Laura, Bernal Sara, Barceló Maria J, Martínez-Hernández Rebeca, Martínez Elisabeth, Baiget Montserrat, Tizzano Eduardo F

Abstract excerpt

Spinal muscular atrophy and amyotrophic lateral sclerosis are both motor neuron disorders. Several studies have tried to establish a link between the two diseases but the subject is still under debate. In amyotrophic lateral sclerosis, large expansions of the hexanucleotide GGGGCC in intron 1 of the C9orf72 gene are responsible for a variable percentage of familial and sporadic cases. We investigated whether the...

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Source

Identifiers

PMID: 24998634
DOI: 10.3109/21678421.2014.929148

Genes

SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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