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Novel Pathogenic Variants Leading to Sporadic Amyotrophic Lateral Sclerosis in Greek Patients.

Genes - 28 Feb 2024

Ivantsik Ouliana, John Anne, Kydonopoulou Kyriaki, Mitropoulos Konstantinos, Gerou Spyridon, Ali Bassam R, Patrinos George P

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive disease that affects motor neurons, leading to paralysis and death usually 3-5 years after the onset of symptoms. The investigation of both sporadic and familial ALS highlighted four main genes that contribute to the pathogenesis of the disease: SOD1, FUS, TARDBP and C9orf72. This study aims to provide a comprehensive investigation of genetic variants...

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Amyotrophic Lateral Sclerosis
Greece
Mutation
Superoxide Dismutase-1

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38540370
DOI: 10.3390/genes15030309
PMCID: PMC10970271

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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